Category Archives: Pedigree Collapse

The Mystery of the Blue Fugates and Smiths: A Study in Blue Genes and Pedigree Collapse

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The story of the Blue Fugates, an Appalachian family, is quite interesting, from a genetic perspective, a genealogical perspective, and a genetic genealogy perspective.

Who Are the Blue Fugates?

Martin Fugate, supposedly an orphan from France, and his bride, Elizabeth Smith, who had married by 1840, have long been attributed as the progenitors of the Blue Fugate Family of Troublesome Creek, in and around Perry County, Kentucky.

Their descendants were known as “The Blue Fugates” and also “The Blue People of Kentucky” because some of their children and descendants carried a recessive autosomal genetic trait, Methemoglobinemia.

Methemoglobinemia causes the skin to appear blue due to an oxygen deficiency in the red blood cells. Some people only exhibit this characteristic, or even just blue tinges in their fingernails and lips, when they are cold or agitated, such as when infants cry. Yet others are very, very blue.

Inheritance

In order for someone to exhibit the autosomal recessive trait of blueness due to Methemoglobinemia, they must inherit a copy of the gene from BOTH PARENTS. That’s why this trait is so rare.

  • If the parents have only one copy each, they are carriers and will not have the condition themselves.
  • If one parent carries either one or two copies, and the other parent does NOT carry a copy, their offspring CANNOT carry two copies of the mutation and will not be blue.
  • If both parents carry a copy, and both parents pass their copy on to their offspring, the offspring will probably exhibit some level of blueness – from just a tinge when they are cold, ill or or upset, to very, very blue.

I’m not a physician, so I’m not delving into the medical specifics of Methemoglobinemia, but suffice it to say that levels of 10-20% of methemoglobin in the blood produce blue skin, higher levels can produce more severe medical conditions, and levels beneath that may not be visually detectible.

What’s important for the genealogy aspect of this story is that both parents must carry a copy AND pass their copy on for the condition to express in their offspring.

We’ve learned a lot since the 1800s when this was first observed in various members of the Fugate family in Perry County, KY, and since the 1960s when this phenomenon was first studied in the Fugate family and their descendants. To be clear, there are also references to the blue Combs and blue Ritchies in and around Perry County – but the common factor is that they have ancestors that descend from the Fugate family AND the Smith family ancestors, both.

During my research, I’ve proven some of what was initially accepted as fact was incorrect – and I’d like to correct the record. Bonus points too, because it’s just such a great genealogy story!

My Interest

I’ve been inordinately interested in the Fugate family for a long time – but not because of their famous blueness.

The Fugate family has been found for more than 225 years alongside my Cook, Claxton, Campbell, and Dobkins families. First, in Russell County, VA, where Josiah Fugate was granted land along Sword’s Creek in 1801 that adjoined Harry Smith, Richard Smith, and others, including my brick-wall ancestor, Joel Cook. Keep in mind that we have never discovered the birth surname of Joel’s wife or Joel’s parents.

Joel’s daughter, Sarah, married James Claxton about 1799 or 1800 in Russell County, and in February of 1802, James Claxton and Zachariah Fugate, among others, were ordered to view and lay out a new road. They were clearly neighbors, living on the same road, and knew each other well. We don’t know who James’ parents were either.

The Fugates first lived adjacent to the Cook, Riley, Stephens, and Claxton families on Mockason Creek in Russell County, then later migrated with the same group of families to Claiborne County where they lived along the Powell River near the Lee County, VA line, and are very closely associated with the Dobkins and Campbell lines.

Sometime between 1802 and 1805, several Russell County families moved 110 miles down the mountain range and settled together on the Powell River in Claiborne County, TN.  About the same time, others from the same cluster moved to what would eventually become Perry County, KY.

In 1805, the Fugates were ordered as road hands on the north side of Wallen’s Ridge in Claiborne County, the part that would become Hancock County in the 1840s, along with James Claxton and several Smiths.

In 1808, James Claxton witnessed a deed to Henley Fugate and John Riley.

The unsubstantiated family rumor, repeated as fact but with no source, has always been that William Fugate married the sister of my John Campbell. If that were true, tracking the Fugates would help me track my Campbells – yet another brick wall. Hence, my early interest in the Fugate family. Until now, I’ve never solved any part of that puzzle.

In 1827, in Claiborne County, Henry Cook, road overseer, is assigned John Riley, Henly Fugate, William Fugate, Fairwick Claxton (son of James who had died in 1815), and others. These families continued to be allied, living close to each other.

In 1842, William Fugate (1799-1855), born to William Fugate and Sarah Jane Stephens in Russell County, is involved in the estate of John Campbell, born about 1772, who had died in 1838. John Campbell was the husband of Jane “Jenny” Dobkins, daughter of Jacob Dobkins (1751-1835).

William Fugate of Claiborne County signed a deposition in 1851 saying he came to Claiborne County, TN, in 1826. Claiborne County is rugged terrain, located on the south side of the Cumberland Gap, where Virginia, Tennessee, and Kentucky intersect.

In 1853, both William Fugate and Jehiel Fugate are neck-deep in lawsuits surrounding the estate of Jacob Dobkins, who died in 1835, lived on Powell River, and whose daughters married John Campbell and his brother George Campbell

I recently discovered that this William Fugate was born about 1799 in Russell County, VA, and according to his son’s death certificate, William’s wife was Nancy Riley, which makes a lot of sense, given the proximity of these families. I must admit, I’m glad to solve this, but I’m also disappointed that he wasn’t married to John Campbell’s sister.

So, why does any of this matter in the Blue Fugate story?

In part, because I knew decades ago that Martin Fugate, of the Kentucky Blue Fugates, was not an orphan from France who had somehow made his way to the eastern shores of Maryland, then to Perry County, KY by 1820 when he supposedly received a land grant. That land grant date doesn’t square with Martin’s birth year of 1820 either, nor his marriage about 1840, both of which are substantiated by the census.

You can see from the information gleaned from Russell County that the Fugate family was there well before 1800. In fact, a Martin Fugate is shown on the 1789 tax list and other Fugates were there earlier, as early as 1771, according to extracted Russell County records in the book “The Fugate Family of Russell County, Virginia” by David Faris. The Fugate descendants continued to press on westward from there. Fugate, unlike Smith, Cook, and even Campbell, is not a common surname.

“Orphan” stories are often early ways that people said “I don’t know”, without saying, “I don’t know where he came from”, so they speculated and said “maybe he was an orphan.” Then that speculation was eventually passed on as fact.

That might have been happening in Perry County in the 1960s, but in Claiborne County in the 1980s, family members were telling me, “Martin waren’t no orphan,” and would roll their eyes and sigh with great exasperation. You could tell this was far from the first time they had had to combat that story. To be clear, the Fugate family lived down along Little Sycamore Creek with my Estes, Campbell and other ancestral families. In the 1980s, I was finding the oldest people possible and talking to them.

Some records in Russell County, where the Fugates of Perry County, KY, and the Fugates of Claiborne County, TN, originated, did and do exist, so could have been researched in the 1960s, but you would have had to know where to look. No one back then knew that the Perry County Fugates originated in Russell County, so they wouldn’t have known to look there. Research wasn’t easy. If they had known to look in Russell County, they would have had to travel there in person to review records. Early records exist in Perry County, too, but in the 1960s, not even the census was available, and people simply didn’t remember back to the early to mid-1800s.

Truthfully, no one would ever have doubted those early stories that had been handed down. They were revered, in all families, and treated as gospel. Those stories were the only connection they had to their ancestors – and the generations inbetween who passed them on. Nope, no one was going to question what Grandpa or Uncle Joe said.

So, in the 1960s, when the Blue Fugates in Perry and adjacent Breathitt County, KY were first studied by Dr. Cawein and his nurse, Ruth Pendergrass, they gathered oral family history and constructed a family pedigree from that information. They documented who was blue from first-hand eye-witness accounts – which would only have stretched back into the late 1800s, best case.

It probably never occurred to anyone to validate or verify earlier information that was provided. Plus, it would have been considered rude. After all, they weren’t genealogists, and they were trying to solve a medical mystery. The information they collected did not conflict with what was known about the disease and how it was transmitted, so they had no reason to doubt its historical accuracy.

The Mystery of the Blue Fugates?

The Blue Fugates were a family renowned for their blue skin – at least some of them had blue skin. That’s part of what makes this story so interesting.

Originally, it was believed that only one progenitor couple was involved, Martin Fugate and his wife, Elizabeth Smith, but now we know there were two. Maybe I should say “at least two.”

Martin Fugate and his bride, Elizabeth Smith, whose first known child was born in 1841, according to the 1850 census, are progenitors of the Blue Fugate Family of Troublesome Creek, but they aren’t the only progenitors.

Martin was not shown in the Perry County, KY 1840 census, but two Zachariah Fugates are present, 8 Fugate families are found in neighboring Breathitt County, more than a dozen in Russell County and surrounding counties in Virginia, and four, including two William Fugates, in Claiborne County, TN. The younger of the two lived next door to John Dobkins, son of deceased Jacob Dobkins.

Martin Fugate (c1820-1899) of Perry County and his second cousin, Zachariah Fugate (1816-1864), who each married a Smith sister, are both progenitors of the Blue Fugates through their common ancestor, their great-grandfather, Martin Fugate, who was born in 1725 and died in 1803 in Russell County, VA.

Obviously, if Martin (c1820-1899) had a Fugate second cousin who also lived in Perry County, Martin wasn’t an orphan. That knowledge is due to more recently available information, like census and other data – and that’s part of what I want to correct.

In 1948, Luke Combs, from Perry County, KY, took his sick wife to the hospital, but Luke’s blueness caused the medical staff to focus on him instead, thinking he was experiencing a medical emergency. He wasn’t. His skin was just blue. In 1974, Dr Charles H. Behlen II said, ‘Luke was just as blue as Lake Louise on a cool summer day.’ The Blue Fugates were “discovered” by the rest of the world, thanks to Luke, but they were nothing new to local people, many of whom did not welcome the notoriety.

In the 1960s, hematologist Madison Cawein III, with the assistance of Ruth Pendergrass, studied 189 members of the extended Fugate family, treated their symptoms, and published his findings. He included a pedigree chart, but not everyone was keen on cooperating with Dr. Cawein’s research project.

The Fugate family history collected for the study was based on two things:

  • Personal knowledge of who respondents knew was blue
  • Remembered oral history beyond the reach of personal knowledge.

That remembered oral history reported that Martin Fugate and Elizabeth Smith’s youngest son, Zachariah Fugate (born in 1871), married his mother’s (older) sister, Mary Smith, (born about 1820), and had a family. I’ve added the dates and information in parentheses, or they would have immediately known that marriage was impossible. Or, more directly, even if they married when Zachariah was 14, Mary would have been 70 years old, and they were certainly not going to produce offspring. This is the second piece of information I want to correct. That marriage never happened, although people were accurate that:

  • Martin Fugate and his wife, Elizabeth Smith, did have a son named Zachariah Fugate
  • One Zachariah Fugate did marry Mary Smith, sister of Elizabeth Smith

It’s just that they were two different Zachariah Fugates, born 75 years apart. Same name confusion strikes again.

I constructed this census table of Martin Fugate with Elizabeth Smith, and Zachariah Fugate with Mary Smith. They lived next door to each other in Perry County – and it seemed that every family reused the same “honoring” names for their children – and had been doing such for generations.

In the 1960s, when the information was being compiled for Dr. Cawein, the census and other documents that genealogists rely on today were not readily available.

Furthermore, genetically, for the mystery Dr. Cawein was attempting to solve, it didn’t really matter, because it was still a Smith female marrying a Fugate male. I know that it made no difference today, but he wouldn’t have known that then. To track down the source of the blueness, he needed to identify who was blue and as much about their ancestors as possible.

The Zachariah Fugate (1816-1864) who married Elizabeth Smith’s sister, Mary Smith, was Martin Fugate’s second cousin by the same name, Zachariah. Both Martin (c1820-1899) and his second cousin, Zachariah (c1816-1864), married to Smith sisters, had blue children, which helps cement the fact that the responsible genes were passed down through BOTH the Fugate and Smith lines, and weren’t just random mutations or caused by environmental or other factors.

Proof

In case you’re wondering exactly how I confirmed that Martin and Zachariah did indeed marry Elizabeth and Mary Smith – their children’s birth and death records confirmed it. These records correlate with the census.

Unlike most states, Kentucky has some pre-1900 birth and death records.

Wilson Fugate’s birth in February, 1855 was recorded, naming both of his parents, Martin Fugate and Elizabeth Smith.

Martin Fugate and Elizabeth Smith’s son, Henley or Hendley, died in 1920, and his death certificate gave the names of both parents. Betty is a nickname for Elizabeth.

On the same page with Wilson Fugate’s birth, we find a birth for Zachariah Fugate and Mary Smith, too.

Hannah Fugate was born in December 1855.

Zachariah Fugate and Mary Smith’s son, Zachariah died in 1921, and his death certificate gives his parents as Zach Fugate and Polly Smith, a nickname for Mary.

There are more death records for children of both sets of parents.

Both couples, Martin Fugate and Elizabeth Smith, and Zachariah Fugate and Mary Smith, are progenitors of the Blue Fugate family.

Of Martin’s 10 known children, 4 were noticeably “blue” and lived long, healthy lives. At least two of Zachariah’s children were blue as well.

Some people reported that Martin, himself, had deep blue skin. If so, then both of his parents would have carried that genetic mutation and passed it to him.

Unfortunately, color photography didn’t exist when Martin (c1820-1899), lived, so we don’t know for sure. For Martin’s children to exhibit blue skin, they would have had to inherit a copy of the gene from both parents, so we know that Martin’s wife, Elizabeth, also inherited the mutation from one of her parents. Ditto for Zachariah Fugate and Mary Smith. The chances of two families who both carry such a rare mutation meeting AND having two of their family members marry are infinitesimally small.

Dr. Cawein’s Paper

In 1964, Dr. Cawein published his findings, but only with a pedigree chart with no names. What was included was an explanation about how remote and deep the hills and hollows were, and that out-migration was almost impossible, explaining the propensity to marry cousins.

Legend:

  • Measured – Found to have elevated methemoglobin
  • Measured – Found to have decreased methemoglobin
  • Not measured – Reported to be “blue”
  • Measured – Found to be normal

Cawein further stated that data was collected by interviewing family members who personally knew the individual in question and could say if they were actually blue.

Cawein erroneously reported that “Martin Fugate was an orphan born about 1800, landed in Maryland, obtained a land grant in Perry County, KY in 1820, and married a local gal. From 1820 to about 1930, the population consisted of small, isolated groups living in creek valleys and intermarriage was quite common.” Bless his heart.

Later, geneticist Ricky Lewis wrote about the Blue Fugates, sharing, among other things, the provenance of that “blue” family photo that circulates on the internet, revealing that it is a composite that was assembled and colorized back in 1982. She also erroneously stated that, “after extensive inbreeding in the isolated community—their son married his aunt, for example—a large pedigree of “blue people” of both sexes arose.” Bless her heart too.

Dr. Lewis is incorrect that their son married his aunt – but she’s right that intermarriage between the families is responsible for the blue descendants. In colonial America, and elsewhere, cousin marriages were fairly common – everyplace. You married who you saw and knew. You saw your family and neighbors, who were generally your extended family. No left-handed apology needed.

Pedigree collapse, sharing the same ancestors in multiple places in your tree, is quite common in genealogy, as is endogamy among isolated populations.

Today, things have changed somewhat. People move into and out of an area. The younger generation moves away a lot more and has for the past 100+ years. Most people know their first cousins, but you could easily meet a second or third cousin and never know you were related.

While early stories reported that Martin Fugate (c1820-1899) was an orphan from France, mysteriously appearing in Kentucky around 1820, later genealogical evidence as well as genetic research proves that Martin Fugate was actually born about 1820, in Russell County, VA and his ancestors, over several generations, had followed the typical migration path across Virginia into Kentucky.

We’ve also proven that Martin’s son, Zachariah (born 1871) was not the Zachariah who married Elizabeth Smith’s sister, Mary, who was 50 years old when Zachariah was born.

What else do we know about these families?

The Back Story

Compared to the Smith story, the Fugate story was “easy.”

Don’t laugh, but I spent several days compiling information and charting this in a way I could see and understand in one view.

I hesitate to share this, but I’m going to because it’s how I think. I also put together a very basic Fugate tree at Ancestry, here. Many children and siblings are missing. I was just trying to get this straight in my mind.

Click to enlarge any image

This spreadsheet is color-coded:

  • The text of each lineage has a specific color. For example, Fugates are blue.
  • Some people (or couples) are found in multiple descendants’ lines and are duplicated in the tree. Duplicated people also have a cell background color. For example, Mahala Richey (Ritchey, Ritchie) is highlighted yellow. James and Alexander Richey have green text and apricot background because they are duplicated.
  • The generation of parents who had blue children is marked with black boxes and the label “Blue Kids.”
  • Only the blue kids for this discussion are listed below those couples.
  • The bluest person was Luna Fugate (1886-1964).
  • While Luna’s husband, John Stacey, also descended from the Smith/Combs line, only one of their children expressed the blue trait. That child’s lips turned blue when they cried. John and Luna were actually related in three ways. Yes, my head hurts.
  • The last known “blue” person was Luna Fugate’s great-grandchild, whose name I’ve obfuscated.

Ok, let’s start with the blue Fugates on our spreadsheet. You’ll probably want to follow along on the chart.

Martin Fugate (1725-1803) and wife Sarah, had several children, but only two, the ones whose grandchildren married Smith sisters are known to have had blue children.

On our chart, you can see that Martin (1725-1803) is blue, and so is Son 1, William Fugate and Sarah Stephens, along with Son 2, Benjamin Fugate and Hannah Devers. Both William and Benjamin are mentioned in Martin’s estate in 1803 in Russell County, VA.

Two generations later, Martin Fugate (c1820-1899) and Elizabeth Smith had four blue children, and Zachariah Fugate (c1816-1864) and Mary Smith had at least two blue children. Furthermore, Zachariah Fugate’s sister, Hannah (1811-1877), married James Monroe Richie.

The Richey’s are green, and you can see them on both the left and right of the chart. Hannah’s husband descended from the same Richey line that Elizabeth Smith did. It was no surprise when their child, Mahala Ritchie (1854-1922), married Levi Fugate, to whom she was related three ways, they became the parents of a blue child. Their daughter, Luna Fugate, was known as “the Bluest of the Blue Fugates.”

Mahala Ritchie (1854-1922) could have inherited her blue gene (or genes) from either her mother Hannah Fugate, or her father, James Monroe Ritchie, or both. We don’t know if Hannah was blue or not.

We do know that Mahala married Levi Fugate, her third cousin through the Fugate line, and her third and fourth cousin also through the Richie and Grigsby lines, respectively. This is the perfect example of pedigree collapse.

You can see the purple Grigsby lines in the center and to the right of the pedigree chart too, with Benjamin Grigsby, highlighted in blue, being common to both lineages.

Zachariah Fugate (1816-1864) and Mary Smith had at least two blue sons, but I am not tracking them further. Suffice it to say that Blue John married Letha Smith, his first cousin, the granddaughter of Richard Smith and Nancy Elitia Combs. Lorenzo, “Blue Anze”, married a Fugate cousin, so it’s no surprise that Zachariah and Mary were also progenitor couples of the Blue Fugates.

Martin’s son, Levi Fugate, married Mahala Ritchie, mentioned above, and had Luna Fugate who would have been personally known to Dr. Cawein. Luna, pictured above, at left, was known as the bluest of the Blue Fugates.

Luna married John Stacey who some thought wasn’t related to Luna, so it was confusing why they had one child that was slightly blue. However, John turns out to be Luna’s second cousin, third cousin once removed and first cousin once removed through three different lines. His great-grandparents were Richard Smith and Nancy Combes. Since one of their children had a slight blue tinge, John, while not visibly blue himself, clearly carried the blue gene.

Where Did the Blue Gene Come From?

The parents of Elizabeth Smith and Mary Smith were Richard Smith and Nancy (Eletia) Combs. His Smith ancestors include both the Richeys and Caldwells.

James Richey (1724-1888) married Margaret Caldwell (1729-1802) and his father, Alexander Richey (1690-1749) married Jeanne Caldwell (1689-1785). While the Caldwell females weren’t closely related, Jeanne was the daughter of Joseph Alexander Caldwell (1657-1730) and Jane McGhie, and Margaret Caldwell (1729-1802) was the great-granddaughter of that couple. The Caldwells are shown in magenta, with both Richey/Caldwell couples shown as duplicates. The Richey are highlighted in apricot, and the Caldwell’s with a light grey background. It was difficult to show how these lines connect, so that’s at the very top of the pedigree chart.

When just viewing the Smith-Combs line, it’s easier to view in the Ancestry pedigree.

The Smith, Richey, Combs, Grigsby, and Caldwell lines are all repeated in different locations in the trees, such as with Hannah Fugate’s husband. These repeated ancestors make it almost impossible for us to determine where in the Smith ancestral tree that blue gene originated.

We don’t know which of these ancestral lines actually contributed the blue gene.

Can We Figure Out Where the Blue Gene Came From?

How could we potentially unravel this mystery?

We know for sure that the blue gene in the Fugate side actually descends from Martin Fugate who was born in 1725, or his wife, Sarah, whose surname is unknown, because their two great-grandchildren, Martin (c1820-1899) and Zachariah (1816-1864) who both married Smith sisters had blue children. For those two intervening generations between Martin Fugate (1725-1803) and those two great-grandsons, that blue gene was quietly being passed along, just waiting for a blue Fugate gene carrier to meet another blue gene carrier. They found them in the Smith sisters.

None of Martin (1725-1803) and Sarah’s other children were known to have had any blue children or descendants. So either they didn’t carry the blue gene, or they didn’t marry someone else who did – that we know of.

We can’t tell on the Smith side if the blue gene descends from the Smith, Richey, Grigsby or Caldwell ancestors, or maybe even an unknown ancestor.

How can we narrow this down?

If a Fugate in another geographic location married someone from one of these lineages, say Grigsby, for example, and they had blue offspring, and neither of them shared any of the other lineages, then we could narrow the blue gene in the Smith line to the Grigsby ancestor.

Unfortunately, in Perry and surrounding counties in Kentucky, that would be almost impossible due to intermarriage and pedigree collapse. Even if you “think you know” that there’s no connection through a third line, given the deep history and close proximity of the families, the possibility of unknown ancestry or an unexpected parent is always a possibility.

Discover

While the blue gene is not connected to either Y-DNA or mitochondrial DNA, we do have the Fugate’s Y-DNA haplogroup and the Smith sisters’ mitochondrial DNA.

Y-DNA

The Big Y-700 haplogroup for the Martin Fugate (c1820-1899) line is R-FTA50432, which you can see, here..

You can see the Blue Fugate Family by clicking on Notable Connections.

If you’re a male Fugate descendant who descends from anyone other than Martin Fugate (c1820-c1899), and you take a Big Y test, you may well discover a new haplogroup upstream of Martin (c1820-1899) that represents your common Fugate ancestor.

If you descend from Martin, you may find youself in either of the two haplogroups shown for Martin’s descendants, or you could split the line to form a new haplogroup.

We don’t have the mitochondrial DNA of Martin Fugate (c1820-1899), which would be the mitochondrial DNA of his mother, Nancy Noble. We also don’t have the the mtDNA of Mary (Polly) Wells, the mother of Zachariah Fugate (c1816-1864). If you descend from either of these women in a direct matrilineal line, through all women, please take a mitochondrial DNA test and reach out. FamilyTreeDNA will add it as a Notable Connection.

We do, however, have the mitochondrial DNA of Elizabeth and Mary Smith

Mitochondrial DNA of Elizabeth and Mary Smith

The mitochondrial DNA of both Elizabeth and Mary Smith follows their mother’s line – Nancy Combs through Nancy (Eletia?) Grigsby. Nancy’s mother is unknown, other than the possible first name of Margaret.

Nancy Grigsby’s descendant is haplogroup K1a61a1, which you can see here.

The Blue Fugates show under Notable Connections.

The Smith sisters’ haplogroup, K1a61a1, tells us immediately that their ancestor is European, eliminating other possibilities.

The time tree on Discover is quite interesting

Haplogroup K1a61a1 was formed about the year 1400. Descendants of this haplogroup are found in the UK, Scotland, England, several unknown locations, and one person who selected Native American, which is clearly in error. Haplogroup K is not Native American.

By focusing on the haplotype clusters, identified by the F numbers in the elongated ovals, our tester may be able to identify the mother of Nancy Grigsby, or upstream lineages that they can work back downstream to find someone who married Thomas Grigsby.

This story is far from over. In fact, a new chapter may just be beginning.

If you’re a Fugate, or a Fugate descendant, there’s still lots to learn, even if autosomal DNA is “challenging,” to say the least, thanks to pedigree collapse. Testing known females lineages can help us sort which lines are which, and reveal their hidden stories.

Other resources if you want to read more about the Fugates: The Blue People of Troublesome Creek, Fugates of Kentucky: Skin Bluer than Lake Louise, Those Old Kentucky Blues: An Interrupted Case Study, and Finding the Famous Paintings of the Blue People of Kentucky.

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2024 Retrospective – Plus New Color Version of Complete Guide to FamilyTreeDNA

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I hope 2024 was a great year for you.

2024 was an amazing year that included the release of my new book, Complete Guide to FamilyTreeDNA, and two genealogy-focused trips. I was also able to use Y-DNA to extend multiple paternal lines and break down a mitochondrial brick wall. It hardly gets better than this, but I have a focus list for 2025 already – and I hope you do, too.

But before we move on to 2025, let’s take a look at what was popular in 2024. Did you miss anything? Now is a great time to review, and I’ve assembled a list of this year’s top ten articles for you.

2024 in Review

Each year, I look back at my blog’s end-of-year statistics to see which articles were the most popular. I published 75 articles in 2024, which is an article about every four and a half days.

The Top 10 List isn’t just compiled from this year’s new articles, but the top 10 articles read this year from all 1738 articles that I’ve published over the past 12.5 years. I’ve noted the publication year by the article name.

Four of this year’s top 10 also fall in the all-time top 10. Of course, articles that have been published longer have more time to accrue views.

Article 2024 All Time
Concepts – Calculating Ethnicity Percentages (2017) 1 2
442 Ancient Viking Skeletons Hold DNA Surprised – Does Your Y or Mitochondrial DNA Match? (2020) 2
Ancestral DNA Percentages – How Much of Them is in You? (2017) 3 5
Proving Native American Ancestry Using DNA (2012) 4 1
23andMe Trouble – Step-by-Step Instructions to Preserve Your Data and Matches (2024) 5
DNA Inherited from Grandparents and Great-Grandparents (2020) 6
Ancestry’s ThruLines and Shared Matches Now Require a Subscription (2024) 7
Native American Mitochondrial Haplogroups (2013) 8 10
FamilyTreeDNA Tree Integration with MyHeritage – Step-by-Step Instructions (2024) 9
Y-DNA: Step-by-Step Analysis (2020) 10

Consistently, Native American DNA, ethnicity, and inheritance prove to be overwhelmingly popular topics. This probably explains the success of my book, DNA for Native American Genealogy. It’s timeless, and there are always new people searching! Thank you to everyone who has purchased it.

Of course, articles about this year’s announcements in the genetic genealogy world are always popular. The articles that didn’t make the Top 10 List but are in the 11-20 category include articles from RootsTech, two more Native American articles,  determining full or half-siblings, pedigree collapse, the Washington family burial article, plus one about my Acadian ancestors and their DNA.

Thank you to everyone who subscribes, reads, and comments. Please share this article or site link with another genealogist who you think might benefit. As you know, it’s easy to subscribe and completely free.

You can also search for keywords in articles throughout the year to answer questions when you see them on social media or elsewhere. It’s easy and educational to post or send an article link.

Complete Guide to FamilyTreeDNA – Now Available in Color

Are you ready for a good laugh?

As I was reviewing these articles, I thought to myself, “where’s the announcement of the new color version of my book, “The Complete Guide to FamilyTreeDNA”?

I literally forgot to publish that article. How could I?? I mean…seriously. (My excuse is that I was traveling, plus conferences and back-to-back hurricanes.)

So, here’s the (slightly late) mini-announcement.

Initially, in May, The Complete Guide to FamilyTreeDNA was released in a full-color e-pub version, which is available from the publisher here. You can take a look at the table of contents here.

That was followed shortly by the release of the black and white print version, available in the US from the publisher, here, and worldwide from your country’s Amazon. Selling outside the US through Amazon removes the issues of expensive international shipping, VAT tax, and customs, which significantly increases the cost of the book and delays its delivery.

The decision was made to publish initially in black and white due to printing costs, but lots of people requested a color book.

For those who have already purchased the black-and-white version, the publisher has provided a free downloadable PDF with 26 of the most critical pages in color. We really had no idea that people would be eager to purchase a color version, but that has proven to be the case, and we didn’t want earlier purchasers to be disappointed.

Drum Roll

You spoke, and we listened.

In the fall, we released a full-color print-on-demand version of The Complete Guide to FamilyTreeDNA. Again, in the US, the book is available from the publisher, here, and at Amazon elsewhere.

This book truly is comprehensive and includes both DNA education, along with how to use the FamilyTreeDNA tools, many of which are unique in the industry. For example, no other vendor offers either Y-DNA or mitochondrial DNA testing and matching.

You don’t know what you don’t know, and I encourage you to find out!

Thank You!

Thank you so much for your ongoing support. Twelve years strong, going on 13.

Be thinking about what you’d like to see in 2025, because I’m going to be asking you tomorrow!

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Announcing: The Complete Guide to FamilyTreeDNA; Y-DNA, Mitochondrial, Autosomal and X-DNA

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I’m so very pleased to announce the publication of my new book, The Complete Guide to FamilyTreeDNA – Y-DNA, Mitochondrial, Autosomal and X-DNA.

For the first time, the publisher, Genealogical.com, is making the full-color, searchable e-book version available before the hardcopy print version, here. The e-book version can be read using your favorite e-book reader such as Kindle or iBooks.

Update: The hardcopy version was released at the end of May and is available from the publisher in the US and from Amazon internationally.

This book is about more than how to use the FamilyTreeDNA products and interpreting their genealogical meaning, it’s also a primer on the four different types of DNA used for genealogy and how they work:

  • Autosomal DNA
  • Mitochondrial DNA
  • Y-DNA
  • X-DNA

There’s a LOT here, as shown by the table of contents, below

This book is chocked full of great information in one place. As an added bonus, the DNA glossary is 18 pages long.

I really hope you enjoy my new book, in whatever format you prefer.

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If you haven’t already subscribed (it’s free,) you can receive an e-mail whenever I publish by clicking the “follow” button on the main blog page, here.

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I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase your price but helps me keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

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Washington Family Lineage Revealed from Family Burials & Opens the Door for More

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I’m excited to share the paper, “Unearthing Who and Y at Harewood Cemetery and inference of George Washington’s Y-chromosomal haplotype” by Cavagnino et al. 2024, and published in iScience, on which I’m a co-author.

When Goran Runfeldt, Head of R&D at FamilyTreeDNA called me last year and asked if I wanted to work on something fun, I had no idea of the significance of the journey I was about to undertake. I was privileged to join the team working on the Washington family story, as told through DNA via excavated family burials.

I’ll tell you upfront that this project is very close to my heart in a very personal way.

Let’s talk about the science first, then I’ll share my exciting personal connection.

The Washington Project

By the time I joined this study, Courtney Cavagnino and the team at Armed Forces DNA Identification Laboratory, a division of the Armed Forces Medical Examiner System (AFMES-AFDIL), had already been hard at work sequencing burials from the Harewood Cemetery in West Virginia for some time.

By Acroterion – Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=5598643

The Harewood Cemetery is located on a plantation owned by the Washington family where two grandsons of President George Washington’s brother, and their mother, Lucy Payne, are buried in unmarked graves.

George Washington’s brother, Samuel Washington (1734-1781), had the home designed in 1770 and had moved there before his death in 1781 at the age of 46, from tuberculosis. George Washington (1732-1799) visited his brother there several times.

Samuel Washington’s son, George Steptoe Washington (1771-1809), eventually inherited the property and married Lucy Payne (1769-1846). With Lucy, he had sons Dr. Samuel Walter Washington (1797-1831) and George Steptoe Washington II (1806-1831).

Lucy Payne’s younger sister, Dolley, married James Madison, the future President, in the parlor at Harewood in 1794.

This graphic from the paper shows Samuel Walter Washington’s ancestors. Note that he is related to Augustine Washington and Mary Ball through three different paths.

The FamilyTreeDNA research team redrew the relationships in a more traditional genealogical view.

Image courtesy FamilyTreeDNA. Click to enlarge.

Complicating the analysis, and making it more interesting was the fact that present-day tester, Samuel Walter Washington (SWW) is descended from Augustine Washington, the patriarch of the colonial Washington Family, and his wife, Mary Ball, through three different paths.

The Burials

According to the 1882 last will and testament of Dr. Samuel Walter Washington’s wife, the graves at Harewood were relocated to the Zion Episcopal Churchyard in Charles Town, West Virginia, where gravestones were placed for the Washington males. Therefore, only fragments and small bones were left in the Harewood plantation graves.

The Harewood property still remains in the Washington family, so they had ready access to the cemetery location. The original excavation took place in May of 1999, after using ground-penetrating radar to identify the likely burial locations based on soil disturbances. The original goal was to locate the grave of Samuel Washington, George Washington’s younger brother.

As would be expected, bacteria had contaminated already degraded DNA. This precluded traditional as well as some forensic sequencing methods. DNA capture technology has improved significantly since 1999, so the AFMES-AFDIL team was using a combination of revolutionary technologies to process the remains.

A technique known as hybridization capture using bait panels was combined with NGS sequencing to attempt to obtain about 95,000 nuclear SNPs, similar to those used in traditional autosomal testing. Additionally, the capture was primed for mitochondrial and Y-DNA SNPs for haplogroup determination. Some Y STRs were captured as well. The paper, published today, provides more technical details for those who are interested.

Three Kinds of DNA

We were fortunate to be able to utilize three types of DNA in the analysis.

Each type of DNA, with its specific inheritance characteristics, was critically important for establishing relationships between the burials. The connection to SWW identified the male burials.

  • Y-DNA is passed only from male to male and is not mixed with the DNA of the mother, making it uniquely qualified for male lineage matching.
  • Mitochondrial DNA is passed only from women to both sexes of their offspring, not mixed with the DNA of the father, making mitochondrial DNA uniquely qualified for matrilineal lineage matching.
  • Autosomal DNA is inherited from all ancestral lineages and is divided in each generation. Half is inherited from one’s mother and half from one’s father. Based on both random inheritance and recombination, people, on average, inherit half the amount of autosomal DNA of each ancestor that their parents did.

Y-DNA

Y-DNA is passed from father to son intact, meaning that it is not mixed with the DNA of the mother. Small mutations accrue over time, forming branches of the Y-DNA phylogenetic tree. Those branches have names assigned, called haplogroups. The higher up the tree, the more descendant branches have occurred over time. The further down the tree, the more unique and refined the haplogroup. Haplogroups are formed when two or more men have the same group of unique mutations.

Additionally, a second type of Y-DNA, STRs, or short tandem repeats, is also used for comparison. These mutate much more quickly than SNPs, single-nucleotide polymorphisms, used to determine haplogroups. Both types of Y-DNA are utilized together.

The bait panels were constructed to recover at least some information about the Y-DNA of the male individuals buried in the graves. For comparison purposes, Samuel Walter Washington, the living descendant, took the highly refined Big Y-700 test at FamilyTreeDNA  which tests millions of locations on the Y chromosome – including all of the locations on the bait panels..

Some Y-DNA of the two male burials was recovered and reconstructed. The DNA results matched each other, as would be expected of brothers, and also the Y-DNA of SWW.

This provided a relatively high-level haplogroup designation, R-U152, which was formed about 4500 years ago.

A matching haplogroup at this level does not confirm a close family relationship, but it also doesn’t preclude it.

Fortunately, the Big Y-700 test of SWW was able to reveal significantly more information, including his refined haplogroup of R-FTE201 which was formed about 2000 years ago.

George Washington didn’t have any known children, so we can’t compare his Y-DNA or autosomal DNA directly to either the Harewood burials or SWW.

Barring an unknown paternity event, George Washington’s Y-DNA haplogroup would be the same as that of his brother’s grandsons and the same as present-day tester SWW.

Of course, it’s possible that small mutational differences would have occurred in the past three centuries, since Augustine Washington, the common ancestor of George Washington and SWW, lived, but if so, their haplogroups would be nearly identical.

The Washington family has graciously permitted the Washington lineage to be included in Discover, so if you are haplogroup R, please check to see if the presidential Washington family shows up in your Notable Discover connections in the next few days.

Mitochondrial DNA

Mitochondrial DNA is passed from mothers to all of their children without being admixed with the father’s mitochondrial DNA. Only females pass it on. Therefore, to obtain the mitochondrial DNA of any ancestor, one must descend from that female ancestor through all females. In the current generation, the tester can be a male.

Mitochondrial DNA has been the chosen methodology for the identification and repatriation of military remains for at least two decades. The reason is simple. Mitochondrial DNA is easier to retrieve since thousands of copies live in the cytoplasm of each cell. Only one copy of the 23 pairs of autosomes lives in the nucleus of a cell.

The mitochondria are comprised of 16,569 locations, while the autosomes contain 3 billion pairs, for a total of 6 billion locations across both the maternal and paternal chromosomes. As you can imagine, degraded autosomal DNA is broken into small pieces and mixed together. Think of a blender. Recovering that DNA and then piecing it back together is a massive undertaking.

Furthermore, with military repatriations, the mother or sibling or other relative who shares the mitochondrial DNA of the soldier contributes their mitochondrial DNA to the military for comparison against remains as they are recovered.

One of the ways that the graves of Dr. Samuel Walter Washington and his brother, George Steptoe Washington, were confirmed is that the mitochondrial DNA recovered from those burials matches the mitochondrial DNA of another burial, which was determined to be their mother, Lucy Payne.

While mitochondrial DNA alone is generally not adequate to definitively prove identity, it can be utilized along with other evidence, such as extra mutations in addition to haplogroup-defining mutations, and the geographical location where the remains were recovered.

The AFMES-AFDIL team recovered the full sequence of Lucy Payne’s and her sons’ mitochondrial DNA, which was identified as haplogroup J1c1b1a1 based on unique haplogroup-defining mutations.

Why the AFMES-AFDIL Team?

You may recall that the US government agency involved in this project is the Armed Forces DNA Identification Laboratory. Why, you might wonder, are they involved in the identification of the people interred in the Washington family cemetery?

Did you notice that I said, “mitochondrial DNA has been the chosen methodology” for identification?

The AFMES-AFDIL team is developing and refining multiple techniques that can be utilized to identify badly degraded remains of servicemen.

For example, in this case, there were only small bones, the DNA was severely degraded, and there was significant contamination.

If the mitochondrial DNA was a very common haplogroup, and was perhaps only partially recovered, they could eliminate several possible soldiers as matches, but they could not make a positive ID.

This case was just “problematic” enough to be useful, without being an unknown or unresolvable situation.

The family was involved and supportive. They knew who the candidate burials were in the cemetery and SWW contributed his own DNA for comparison.

SWW’s involvement provided two very important genetic benefits.

  • First, SWW descended from Augustine Washington through the direct paternal line, so his Y-DNA should match that of the two Washington men in the burials.
  • Secondly, SWW was related to the male burials in a short enough time period that he should match them both – one as his direct ancestor – his great-great-grandfather. The second burial was his great-great-grandfather’s brother. He should match his great-great-grandfather more closely than his great-great-grandfather’s brother.
Individual Relationship to SWW Expected percent of DNA Expected cMs of DNA Relationship Degree with Dr. Samuel
Dr. Samuel Walter Washington Great-great-grandfather 100 3500
Christian Marie Washington married Richard Scott Blackburn Washington Great-grandmother 50 1750 First
Samuel Walter Washington Grandfather 25 875 Second
John Augustine Washington Father 12.5 437.5 Third
SWW Present-day tester 6.25 218.75 Fourth

Lucy Payne would be SWW’s Fifth Degree relative, as would Dr. Samuel Walter Washington’s brother.

Full siblings share approximately 50% of the same DNA, so SWW would be expected to match the burial to whom he was more closely related with approximately twice as much autosomal DNA.

Therefore, using pairwise comparisons and kinship predictions, the team was able to discern which burial belonged to Dr. Samuel Walter Washington, because SWW matched that burial more closely.

But it turned out to be not quite that simple.

The Monkey Wrench

Relationships are classified as degree levels, as shown above. For example, children are first-degree relatives of their parents, siblings, and children. Genetic relationship levels are determined by comparing the DNA of two people and result in kinship predictions.

Normally, genealogists don’t think much about relationship degrees because we use the number of shared or overlapping centimorgans (cMs), and DNA testing companies provide kinship predictions.

However, because the AFMES-AFDIL team wasn’t working with the normal autosomal chip, they were only able to utilize a portion of the 95,000 locations, and they needed to “convert” SWWs results to compare to Dr. Samuel Washington and George Steptoe Washington Jr. They also needed to compensate for the fact that they were not able to obtain 100% of the 95,000 SNP locations on any of the burials. Recovered DNA ranged from 50%-85%

However, the burials matched SWW at one relationship degree level higher than expected.

Initially, Goran had asked me to review and work on expanding the genealogy of the Washington family, but now we had a new, very-interesting, wrinkle.

On a call, the team mentioned the disparity in the expected relationship level. I realized that the probable answer was that SWW was descended from Augustine Washington not just once, not twice, but three times, and we were seeing the genetic effects of pedigree collapse.

Those multiple relationships are beneficial when they provide one path to the Washington Y-DNA through a direct line to Augustine through his son, John Augustine, and another shorter path to Dr. Samuel Walter Washington for autosomal matching.

However, multiple relationship paths added complexity to autosomal relationship determination

There was yet a third avenue of descent to SWW through the father of Richard Scott Blackburn Washington, John Augustine Washington II.

In other words, there are three ways that SWW can and did inherit autosomal DNA from the Washington lineage, beginning with Augustine. Carrying extra autosomal DNA would affect the expected degree of relationship, potentially for SWW with both of the male Washington burials.

We needed a methodology to account for that.

Pedigree Collapse

I’m sure that the AFMES-AFDIL team didn’t view pedigree collapse as a benefit, at least not initially. They aren’t genealogists, so they really weren’t thinking about pedigree collapse in the same way genealogists do.

I’ve worked with pedigree collapse many times, but three separate events in the same line within a few generations was challenging in terms of getting the math right. It’s not obvious, and it’s not easy.

With pedigree collapse, it’s not just a simple matter of figuring out the expected percentage of DNA for all three relationships and adding them together because some of that DNA can be expected to be shared, which reduces the matching amount of DNA from the “add-three-together” number. So, the actual expected amount of shared DNA is someplace between the closest relationship, in this case, Dr. Samuel Walter Washington, and the additive result of all three relationships.

Plus, I couldn’t use cMs, so one hand was tied behind my back.

Therefore, we worked together to solve this puzzle.

My article, Pedigree Collapse and DNA – Plus an Easy-Peasy Shortcut is the result of my pedigree collapse calculations for this project – and how to make pedigree collapse easier for you to understand and account for.

It’s also the foundation of what I provided for the AFMES-AFDIL team, which integrated it into their protocol. Of course, when I published my Pedigree Collapse article, I had to remove anything that might have given anything away before the study and resulting paper was ready for publication.

Why the Monkey Wrench is Important

When dealing with unknown remains, we don’t have the luxury of already knowing who the family is and their potential position in the family.

The AFMES-AFDIL team wants to be able to utilize the techniques they are perfecting for the identification and repatriation of military remains as far back as WWII, 80 years ago. That means that those men would have been born nearly a century ago, and if a generation is roughly 20-25 years, the people available today to test may be as many generations removed from WWII veterans as SWW is from Dr. Samuel Walter Washington.

The repatriation team also won’t know if they are dealing with pedigree collapse until they see it. If a potential relationship comes back slightly differently than expected, they will know to consider either endogamy or pedigree collapse. Furthermore, tools that measure runs of homozygosity (ROH) can help inform them of either condition.

I’m glad this monkey wrench crept into the equation, and I was in the right place at the right time to help.

The Conversation

I joined this team someplace midway in the process, so I didn’t initially have the benefit of understanding why Courtney’s team was involved – that they hoped to refine their processes to begin utilizing autosomal DNA for repatriation.

I opined at one point that I was incredibly frustrated that this many years following the use of autosomal DNA for genealogy, the military was just now beginning to consider its use for repatriation, AND that they were not and had not been collecting autosomal DNA from family members of MIA/POW service members.

Courtney hopes this study will open that door sooner rather than later. As far as I’m concerned, next week would be great!

I was shocked that I had fallen into this opportunity, given that I have a POW/MIA family. member.

I’m a Gold Star Family Member

My first cousin, Robert Vernon Estes, Bobby, served in the Army in the Korean conflict. He was captured on November 30, 1950 in the horrific battle later known as “The Gauntlet.” He died on approximately January 31, 1951 in a POW camp someplace near Pugwon, Korea. He was only 19.

I am his namesake, and I also represent him as a Gold Star family member.

I’ve written about Bobby’s story, obtaining and unraveling his military records.

Bobby probably starved to death, as other members of his battalion did.

His mother died shortly after his capture, and he had no sisters to contribute mitochondrial DNA.

I’m the closest family member left now. We shared grandparents.

In July 2021, Bobby was honored by the State of Indiana. He served from White County. I was incredibly proud to be his representative family member.

When I accepted the invitation to assist the AFMES-AFDIL team with the Washington family burials, I had absolutely NO IDEA that their goal was to validate and extend this technology and these techniques to service member repatriation.

Bobby’s mother was adopted, so I have absolutely no ability to locate someone with Bobby’s mitochondrial DNA, which has frustrated me greatly for years. Therefore, if Bobby’s body were returned from North Korea today, his remains would remain unidentified and unclaimed. That possibility breaks my heart.

North Korea, “isn’t even answering the phone right now,” so the hope that Bobby will be returned to us in my lifetime fades a little with each passing day. That’s EXACTLY why it’s so important for the military to adopt and accept autosomal DNA from family members, even if they can’t utilize it today. My DNA and others can be archived for the future. Someday, Bobby and other servicemen may come back home.

Mitochondrial DNA alone couldn’t have solved the Washington mystery. There will be service members like Bobby who have no mitochondrial DNA sample waiting to be matched to them.

Just a few months before Goran asked me if I wanted to assist with a fun project, I had spoken with Bobby’s military representative, begging them to accept my autosomal DNA. No dice – at least not then.

Hopefully soon – very soon, so that we can begin to build the bank.

These men deserve to be identified. They gave their lives, their futures – that’s the least we can do for them.

The very least.

I’m so proud to be a part of this fantastic project. I’m incredibly grateful that Fate decided to put me in the right place at the right time, with the right combination of skills. I hope Courtney succeeds in pushing this door all the way open. It’s past time, and our team has proven beyond a doubt what can be accomplished. Our POW/MIA servicemen, servicewomen, and their families deserve it.

Thank you to my colleagues, Michael Sager and Goran Runfeldt at FamilyTreeDNA,  Courtney Cavagnino, and the AFMES-AFDIL team.

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I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase your price but helps me keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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Pedigree Collapse and DNA – Plus an Easy-Peasy Shortcut

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Pedigree collapse can be responsible for you sharing more DNA than expected with another person.

What is pedigree collapse?

Pedigree collapse occurs when you descend from the same ancestor(s) through more than one path. In other words, you descend from those ancestors through two different children. Therefore, when matching with someone else who descends through those ancestors, you may share more DNA than would be expected from that level of relationship on the surface, meaning without pedigree collapse.

Endogamy is different and means that you descend from a community of ancestors who descend from the same group of ancestors. Often out-marriage is discouraged or otherwise impossible, so all of the group of people share common ancestors, which means they often match on segments without sharing close ancestors. Examples of descent from endogamous populations are Jewish, Amish, Brethren, Acadian, Native Hawaiian, Māori, and Native American people, among others.

I wrote about the difference between pedigree collapse and endogamy in the article, What’s the Difference Between Pedigree Collapse and Endogamy?

I’ve also written about endogamy in the following articles:

Degrees of Consanguinity

If you’re a genealogist, and especially if you’ve worked with Catholic church records, you’ve probably heard of “degrees of sanguinity,” which are prohibited blood relationships in marriage. For example, siblings are prohibited from marrying because they are too closely related, according to church doctrine.

By SVG remake by WClarke based on original by User:Sg647112c – Own work, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=54804980

Today, we think of the genetic results of inbreeding, but originally, relationships (and consanguinity) also had to do with inheritance.

Essentially, marriages are prohibited by degree of sanguinity, and that degree is calculated based on this relationship chart. Prohibited degrees of consanguinity changed over time. Sometimes, a priest granted dispensation for a couple to wed who was of a prohibited degree of sanguinity. That’s a genealogy goldmine because it tells you where to look for common ancestors. It also tells you something else – that you may share more DNA with other descendants of that couple than one would otherwise expect.

More Than You Ever Expected

Recently, I’ve been working with an academic research team on a very interesting ancient DNA case that involves pedigree collapse. Doing the genealogy and genetic work on how much DNA was expected in a match without pedigree collapse, and how much was expected with pedigree collapse, was very interesting.

The team was working to confirm relationships between people in a cemetery. The burials shared more DNA than anticipated for who the people were believed to be. Enter pedigree collapse.

I can’t disclose the circumstances just yet – but I will as soon as possible. It’s an extremely interesting story.

We needed to ensure that readers, both academic and more generally understood pedigree collapse and our calculations. Why did burials share higher than expected DNA than indicated by the expected relationships? This puzzle becomes much more interesting when you add in pedigree collapse.

Academic researchers and scientists have access to models and mathematical algorithms that normal air-breathing humans don’t have easy access to.
So, what do you do if you and a match have a known pedigree collapse in your tree? How much DNA can you expect to share, and how do you calculate that?

These are all great questions, so let’s take a look.

I’m sharing the PowerPoint slides I prepared for our team on this topic. I’ve removed anything that would identify or even hint at the project and modified the slides slightly for easier consumption.

This presentation has never been given publicly, so you’re first! It seemed a waste to do this work and not share it!

Pedigree Collapse and DNA

Pedigree collapse occurs when you share an ancestor or ancestors through different pathways. In this case, the person at the bottom is the child of parents who were third cousins, but the father’s grandparents were also first cousins.

First cousin marriages were common in the not-too-distant past. Today, you could easily marry your third or fourth cousin and not even realize it unless someone in your family just happened to be a genealogist.

Genealogists use various tools to calculate the expected amount of shared DNA in relationships – first cousins, siblings, or half-siblings, for example. Both the Shared cM Project at DNAPainter and SegcM at DNA-Sci Tools provide tools.

Take a look at the article, DNA: In Search of…Full and Half-Siblings, for some great examples.

First cousins share common grandparents. Their child inherits DNA from two paths that lead back to the same ancestors. Some of that DNA will be the same, meaning the child will or can inherit the same ancestral segment from both parents, and some will be different segments from those ancestors that the parents do not share with each other.

Inheritance – How It Works

Let’s look at inheritance to see how this happens.

Let’s start with full and half-siblings.

Each child inherits half of their DNA from each parent, but not entirely the same half (unless they are identical twins.)

Therefore, full siblings will match on about 50% of their DNA, which is illustrated by the segments on the chromosome browser. However, and this will be important in a minute, about 25% of their DNA is exactly the same, when compared to each other, on the chromosome inherited from their father and mother at the same location.

On the chromosome browser, you can see that three siblings do match. One sibling (the grey background chromosomes) is the person both other full siblings are being compared to, in the example above.

What you can’t determine is whether they share the exact same DNA on both their mother and father’s Chromosome 1, where the matches overlap, for example. We know they both match their sibling, but the top person could match the sibling due to a match from their paternal chromosome in that location, and the bottom person could match due to their maternal chromosome. There’s no way to know, at least not from that view.

The areas where the siblings share exactly the same DNA on both their maternal and paternal chromosome, both, with each other are called Fully Identical REgions (FIR), as compared to Half Identical Regions (HIR) where the siblings match on either their maternal or paternal copy of the chromosome, but not both.

23andMe used to provide a tool that displayed both types of matches.

Since the data exposure incident at 23andMe, they no longer provide this lovely tool, and since that help page is now gone as well, I doubt this view will ever be returned. Fortunately, I grabbed a screenshot previously.

The dark purple segments are fully identical, meaning that these two full siblings match on both their maternal and paternal chromosomes in that location. The magenta are half identical, which means they match on EITHER the maternal or paternal chromosome in that location but not on both chromosomes. Of course, no color (light grey) means there is no match at that location.

Please note that because 23andMe counts fully identical regions (FIR) twice, their total matching cMs are elevated. The other companies do NOT count those regions twice.
GEDmatch also shows both full and half-identical regions as described more fully, here.

In this full-sibling example from GEDmatch, the green segments are fully identical regions across both the maternal and paternal chromosomes.

The definition of FIR is that two people match on both their mother’s and father’s DNA on the same chromosome. Therefore, in following generations, there technically should not be FIR matches, but in some instances we do find FIR matches outside of full siblings.

Moving down another generation, first cousins may share SOME fully identical DNA, especially if they are from an endogamous population or their mothers are related, but less, and it’s generally scattered.

Here’s my Mom’s GEDmatch comparison to her first cousin. The purple-legend segment shows a match, and the green within that match shows fully identical locations.

You can easily see that these are very scattered, probably representing “chance” or population-based fully identical matching locations within a segment. Comparatively, the green FIR segments for full siblings are dense and compact, indicating a segment that is fully identical.

Evaluating matches for dense FIR segments (known as runs of homozygosity – ROH) is a good indicator of parental relatedness.

Double Cousins

Of course, if these people were double first cousins, where the wives of the siblings were sisters to each other – the first cousins would have large patches of dense green FIR segments.

First cousins share grandparents.

Double first cousins occur when two people share both sets of grandparents, meaning that brothers marry sisters. Normal first cousins share about 12.5% of their DNA, but double first cousins share about 25% of their DNA.

In this case, Sharon and Donna descend from two brothers, James and Henry, who were sons of Joseph and Jane. In this scenario, James and Henry married unrelated women, so Sharon and Donna are first cousins to each other.

Double first cousins share both sets of grandparents so they would inherit FIR from both sets of siblings.

You need to be aware of this, but for now, let’s stick with non-double relationships. You’re welcome!

DNA Inheritance

Here’s a different example of DNA inheritance between two siblings.

  1. You can see that in the first 50 cM segment, both siblings inherited the same DNA from both parents, so they match on both their mother’s and father’s chromosomes. They match on both the 50 cM green and 50 cM pink segments. 23andMe would count that as 100 cMs, but other vendors only count a segment IF it matches, NOT if it matches twice. So, other vendors count this as a 50 cM match.
  2. In column two, these two people don’t match at all because they inherited different DNA from each parent. In this example, Person 1 inherited their maternal grandmother’s segment, and Person 2 inherited their maternal grandfather’s segment.
  3. In column three, our siblings match on their paternal grandmother’s segment.
  4. In column four, no match again.

How much can we expect to inherit at different levels – on average?

Different tools differ slightly, and all tools provide ranges. In our example, I’ve labeled the generations and how much shared DNA we would expect – WITHOUT pedigree collapse.

Ancestral couple Inherited cM Inherited %
Gen 1 – Their children 3500 cM 50
Gen 2 – Grandchildren 1750 cM 25
Gen 3 – Great-Grandchildren 875 cM 12.5
Gen 4 – GG-Grandchildren 437.5 6.25
Gen 5 – GGG-Grandchildren 218.75 3.125
Gen 6 – GGGG-Grandchildren 109.375 1.5625
Gen 7 – GGGG-Grandchildren 54.6875 .078125

Please note that this is inherited DNA, not shared (matching) DNA with another person.

Adding in pedigree collapse, you can see that we have three Gen 1 people involved, three Gen 2 descendants, and two Gen 3 and Gen 4 people.

Each of those people inherit and pass on segments from our original couple at the top.
We have three distinct inheritance paths leading from our original couple to Gen 5.
We have a first cousin marriage at Gen 2, at left, which means that their child, Gen 3, will have an elevated amount of the DNA of their common ancestors.

In Gen 4, two people marry who both descend from a common couple, meaning their child, Gen 5, descends from that couple in three different ways.

Did your eyes just glaze over? Well, mine did, too, which is why I had to draw all of this out on paper before putting it into PowerPoint.

The Gen 5 child inherits DNA from the ancestral couple via three pathways.
The next thing to keep in mind is that just because you inherit the DNA from an ancestor does not mean you match another descendant. Inheritance is not matching.

You must inherit before you can match, but just because you and someone else have inherited a DNA segment from a common ancestor does not guarantee a match. Those segments could be in different locations.

Categories of DNA

When dealing with inheritance and descent, we discuss four categories of DNA.

  • In the first generation, full siblings will, in about 25% of their locations, share the same DNA that has been inherited from both parents on the same chromosome. In other words, they match each other both maternally and paternally at that location. Those are FIR.
  • The DNA you inherit from an ancestor.
  • The DNA that both you and your cousin(s) inherit from a common ancestor and match on the same location. This is shared DNA.
  • The DNA that both you and your cousin(s) inherit from a common ancestor, but it’s not in the same location, so you do not match each other on that segment. Just because you inherit DNA from that ancestor does not necessarily mean that your cousin has the same DNA from that ancestor. This is inherited but not shared.

Inheritance is Not The Same as Matching

Inheritance is not the same thing as matching.

Inheriting our ancestor’s DNA isn’t enough. We need to match someone else who inherited that same segment in order to attribute the segment to that specific ancestor.

Depending on how close or distant the relationship, two people may share a lot of DNA (like full siblings), or one segment in more distant matches, or sometimes none at all. As we reach further back in time, we inherit less and less of our increasingly distant ancestors’ DNA, which means we match increasingly fewer of their descendants. I wrote about determining ancestral percentages in the article,  Ancestral Percentages – How Much of Them is in You?

Based on how much DNA we share with other known relatives, we can estimate relationships.

Pedigree collapse, where one descends from common ancestors more than once, increases the expected amount of inherited DNA, which in turn increases the probability of a shared match with other descendants.

Ancestral Couple Matching Between Shared DNA ~cM Shared DNA ~% Range (Shared cM Project) FIR – Identical DNA
Generation 1 Full Siblings 2600 50 1613-3488 25%
Generation 2 First Cousins 866 12.5 396-1397 0
Generation 3 Second Cousins 229 3.125 41-592 0
Generation 4 Third Cousins 73 0.78125 0-234 0

Here’s an example through third cousins, including expected FIR, fully identical regions where full siblings match each other on both their maternal and paternal chromosomes in the same location.

I provided a larger summary chart incorporating the information from public sources, here, minus FIR.

Of course, double cousins, where two pairs of siblings marry each other, represent another separate level of complexity. DNA-Sci’s Double Cousin Orogen explains this here and also provides a tool.

Double cousins, meaning when two pairs of siblings marry each other, are different from doubly related.

Doubly related means that two people descend from common ancestors through multiple paths, meaning multiple lines of descent. Doubly related is pedigree collapse. Double cousins is pedigree collapse on steroids.

Pedigree Collapse, aka Doubly Related

Calculating expected inherited DNA from multiple lines of descent is a bit more challenging.

A handy-dandy chart isn’t going to help with multiple relationships because the amount of expected shared DNA is based on the number of and distance of relationships.

Please note that this discussion excludes X-DNA matching which has its own inheritance path.

It’s time for math – but I promise I’ll make this relatively easy – pardon the pun.

What’s Behind the Math?

So, here’s the deal. I want you to understand why and how this works. You may not need this information today, but eventually, you probably will. This is one of those “refer back to it” articles for your personal library. Read this once as a conceptual overview, then read it again if you need to work through the relationships.

This is easy if you take it one step at a time.

First, we calculate each path separately.

In the first generation, full siblings inherit identical (FIR) DNA on both their mother’s and father’s chromosomes.

In the second generation, the male inherits the maternal segment, and the female inherits the paternal segment.

In the third generation, their child inherits those segments intact from both of their parents. The child inherits from the ancestral couple twice – once through each parent.

In generation 1, those two segments were FIR, fully identical regions. Both of those men married unrelated wives. When their children, Gen 2, were born, they had either the maternal or paternal segment from their father because they had an entirely different segment in that location from their mother.

However, the child in Gen 3 inherited the original green segment from their father and the original pink segment from their mother – reuniting those FIR segments in later generations.

First Cousin’s Child

Let’s calculate the inheritance for the child of those two first cousins who married.

Ancestral couple Inherited cM Inherited %
Gen 3 – Great-Grandchildren 875 cM 12.5
Gen 3 – Great-Grandchildren 875 cM 12.5
Total 1750 cM 25

Normally, a Gen 3 person inherits roughly 875 cM, or 12.5% of their great-grandparent’s DNA. However, since their grandparents were first cousins, they inherit about twice that amount, or 1750 cM.

While a Gen 3 person inherits as much as a grandchild (25%) normally would from the original couple, they won’t match on all of that DNA. When matching, we need to subtract some of that DNA out of the equation for two reasons:

  • In the first generation, between siblings, some of their DNA was fully identical and cannot be identified as such.
  • In the second generation, they will each have some parts of the ancestral couple’s DNA that will not match the other person. So, they inherit the same amounts from their common ancestors, but they can only be expected to match on about 25% of that amount two generations later.

However, the child of first cousins who marry inherits more DNA of the common ancestors than they would if their parents weren’t related. It’s just that some of that DNA is the same, potentially on the maternal and paternal chromosomes again, and some won’t match at all.

While matching DNA is the whole point of autosomal DNA testing, fully identical DNA matching regions (FIR) cannot be identified that way. For the most part, other than identifying full and half-siblings, sometimes pedigree collapse, and parent-relatedness, fully identical DNA isn’t terribly useful for genealogy. However, we still need to understand how this works.

It’s OK if you just want to say, “I know we’ll share more DNA due to pedigree collapse,” but if you want to know how much more to expect, keep reading. I’d really like for you to understand use cases and be able to track those segments.

Remember, we will learn a super-easy shortcut at the end, so for now, just read. It’s important to understand why the shortcut works.

Sibling Inheritance Versus Matching

In order to compare apples to apples, sometimes we need to remove some portion of DNA in our calculations.

Remember story problems where you had to “show your work”?

Calculating Expected DNA

Here’s the step-by-step logic.

Ancestral couple Inherited Non-Identical cM Inherited %
Gen 1 first son 3500 50
Gen 1 second son 3500 50
Less identical segments (FIR) -1750 (subtracted from one child for illustration) 25
Gen 2 son 1750 25
Gen 2 daughter married Gen 2 son 875 12.5
Gen 3 – Their child path through Gen 2 son 875 cM 12.5
Gen 3 – Their child path through Gen 2 mother 437.5 cM 6.25
Their child total without removing identical segments 1750 cM 25
Their child total after removing identical segments 1312.5 18.75

Category cMs Most Probable Degree Relationship
No Pedigree Collapse 875 98% Great grandparent or great-grandchild, great or half aunt/uncle, great or half niece/nephew, 1C 3
Pedigree Collapse without identical segment removal 1750 100% Grandparent, grandchild, aunt/uncle, half-sibling, niece/nephew 2
Pedigree Collapse after identical segment removal 1312.5 56% grandparent, grandchild, aunt/uncle, niece/nephew, half-sibling 2

Just because you HAVE this much shared (and/or identical) DNA doesn’t mean you’ll match on that DNA.

Next, let’s look at Gen 5 child who inherited three ways from the ancestors.

If you think, “This will never happen,” remember that it did, which is why I was working through this story problem. It’s not uncommon for families to live in the same area for generations. You married who you saw – generally, your family and neighbors, who were likely also family.

Let’s take a look at that 5th generation child.

The more distantly related, the less pedigree collapse affects matching DNA. That’s not to say we can ignore it.

Here’s our work product. See, this isn’t difficult when you take it step by step, one at a time.

Ancestral couple Inherited Non-Identical cM Inherited %
Gen 3 Child total after removing identical segments 1312.5 18.75
Gen 4 father – half of Gen 3 father 656.25 9.375
Gen 5 child – half of Gen 4 father 328.125 4.6875
Gen 5 child – mother’s side calculated from ancestral couple normally 218.75 3.125
Total for Gen 5 Child 546.875 7.8125

Inheritance Ranges

Lots of factors can affect how much DNA a person in any given generation inherits from an ancestor. The same is true with multiple paths from that same ancestor. How do we calculate multiple path inheritance ranges?

As with any relationship, we find a range, or combined set of ranges for Gen 5 Child based on the multiple pathways back to the common ancestors.

Gen 5 Child Inherited Non-Identical cM Inherited %
Without removing either paternal or maternal identical cMs 656.25 9.375
After removing paternal identical cMs only 546.875 7.8125

 
After removing maternal cMs only 546.875 7.8125

 
After removing both paternal and maternal identical cMs 362.50 6.25
Normal Gen 5 no pedigree collapse 218 3.125

What About Matching?

Inheritance and matching are different. Most of the time, two people are unlikely to share all of the DNA they inherited from a particular ancestor. Of course, inheriting through multiple paths increases the likelihood that at least some DNA from that ancestor is preserved and that it’s shared with other descendants.

Two people aren’t expected to match on all of the segments of DNA that they inherit from a particular ancestor. The closer in time the relationship, the more segments they will inherit from that ancestor, which increases the chances of matching on at least one or some segments.

Clearly, pedigree collapse affects matching. It’s most pronounced in closer relationships, but it may also be the only thing that has preserved that ONE matching segment in a more distant relationship.

So, how does pedigree collapse actually affect the likelihood of matching? What can we actually expect to see? Is there a name for this and a mathematical model to assist with calculations?

I’m so glad you asked! It’s called Coefficient of Relationship.

Coefficent of Relationship

My colleague, Diahan Southard, a scientist who writes at YourDNAGuide has authored two wonderful articles about calculating the statistical effects of pedigree collapse.

You can also read another article about the methodology of calculating coefficient of relationship, here, on WaybackMachine.

Diahan is a math whiz. I’m not, so I needed to devise something “quick and dirty” for my own personal use. I promised you a “cheat sheet,” so here’s the methodology.

Two Inheritance Paths – First and Third Cousins

Let’s look at an example where two people are both first cousins and third cousins because their grandparents were also first cousins.

Let’s calculate how these two people are related. They are first cousins and also third cousins.

When calculating the effects of pedigree collapse, we calculate the first relationship normally, then calculate the second relationship and add a portion of the result.

Here’s the math.

Using the Shared cM Project for the expected amount of shared DNA for both relationships, we’ve calculated the expected range for this pedigree collapse relationship.

Tying this back to degrees of relatedness.

Let’s look at ways to do Quick Calculations using the publicly available Shared cM charts and my composite tables, here.

Using Average Shared DNA

This first methodology uses average expected amount of shared, meaning matching, DNA. Please note, I’m not necessarily expecting you to DO this now, just read to follow.

Using Average Inherited DNA

Here’s a second method using average inherited DNA, meaning people wouldn’t be expected to match on all of the inherited DNA – just a portion.

You can’t always use the shared cM charts because all relationships aren’t represented, so you may need to use the amount of expected inherited DNA instead of shared DNA amounts.

Methodology Differences

Remember, none of these methodologies are foolproof because DNA inheritance is random. You may also have additional relationships that you’re aware of.

So, what’s the easiest method? Neither, actually. I’ve found an even easier method based on these proven methodologies.

Easy-Peasy Pedigree Collapse Shortcut Range Calculation in 4 Steps

Now that you understand the science and reasoning behind all of this, you can choose from multiple calculation methodologies after drawing a picture of the relevant tree.

You’re probably wondering, “What’s the easiest way to do this?”

  • These quick calculation methods are the easiest to work with for non-scientists and non-math whizzes. These are the calculations I use because, taking into account random recombination, you can’t do any better than get close.
  • Also, remember, if you’re dealing with double relationships, meaning double first cousins, you’ll need to take that into consideration, too.
  • If endogamy is involved, your matches will be higher yet, and you should use the highest calculations below because you need to be on the highest end of the range – and that may still not be high enough.

In these Easy-Peasy calculations, you calculate for the lowest, then the highest, and that’s your range. Please note that these are options, and truly, one size does not fit all.

  1. For the lowest end of the range, simply use the average of the highest relationship. In this case, that would be 1C, which is 866 cM. Remember that you may not share DNA with third cousins. 10% of third cousins don’t share any DNA, and 50% of fourth cousins don’t.
  2. For the highest end of the range, find the second relationship in the Shared cM chart, divide the average by half, and add to the value from the closest relationship. In this case, half of the 3C value of 76 is 38.
  3. Add 38 to 866 for the highest end of the range of 904.
  4. If there’s yet another path to ANY shared ancestor, add half that amount too to calculate the high end of the range – unless it’s 4C or more distant, then don’t add anything.

You can see that this easy-peasy range calculation for pedigree collapse compares very well to the more complex but still easy calculations.

  • Easy-peasy calculation: 866-904
  • Other calculation methods: 850-903
  • For this same relationship combination, Diahan’s statistical calculation was 850 cM.

Back to Genealogy

What’s the short story about how pedigree collapse affects genealogy?

Essentially, in close generations, meaning within a few generations of two first cousins marrying, descendants can expect to inherit and share significantly more DNA of the common ancestors, but not double the amount. As we move further away from those marriages in time, the effect becomes less pronounced and more difficult to detect. You can see that effect when calculating multiple paths where at the fourth cousin level, or more distant, those cousins have a 50% or greater possibility of not sharing DNA segments.

Of course, with multiple paths to the same ancestor, your chances of inheriting at least some segments from the common ancestor are increased because their DNA descends through multiple paths.

Today, close marriages are much less common and have been for several generations in many cultures, so we see fewer instances where pedigree collapse makes a significant difference.

Within a population or group of people, if pedigree collapse becomes common, meaning that there are multiple paths leading back to common ancestors, like our three-path example, DNA segments from the common ancestors are found among many people. Significant pedigree collapse becomes endogamy, especially if marriage outside of the group is difficult, impossible, or discouraged.

Normally, pedigree collapse is not recorded in actual records. It’s left to genealogists to discover those connections.

The exception, of course, is those wonderful Catholic parish records where the priest granted dispensations. Sometimes, that’s our only hint to earlier genealogy. In the case of the marriage of Marie-Josesphe LePrince to Jacques Forest, the priest wrote “dispense 3-3 consanguinity,” which tells us that they shared great-grandparents. It also tells us that their grandparents were siblings, that the bride and groom were second cousins, and that their children and descendants inherited an extra dose of DNA from their common great-grandparents.

How does that affect me today? Given that I’m their seventh-generation descendant – probably not at all. Of course, they are Acadian, and the Acadians are highly endogamous, which means I match many Acadians because all Acadians share the DNA of just a few founders, making it almost impossible to track segments to any particular ancestor. If it weren’t for endogamy, I would probably match few, if any, of their descendants.

Now, when you see those Catholic church dispensations or otherwise discover pedigree collapse, you can be really excited, because you understand the effects of pedigree collapse and how to calculate resulting matches! You might, just might, have retained a DNA segment from those ancestors because you inherited segments through multiple paths – increasing the probability that one survived.

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