Recently, three articles were been published that discuss a phenomenon where unsuspecting individuals have two copies one parent’s chromosome, and no copy of the other parent’s chromosome. This is called Uniparental Disomy.
Since then, online I’ve seen this phenomenon being offered as a reason for all kinds of things – which just isn’t the case.
I’m sure in part it’s because people either haven’t actually read the articles, or they don’t understand what’s being said.
I’m going to explain this briefly and then tell you how you can find out if this situation actually DOES apply to you.
Uniparental Disomy in Brief
Here are a few summary bullet points about uniparental disomy:
- Uniparental disomy is found on ONLY ONE CHROMOSOME in roughly 1 in 2000 people in the reference samples utilized at 23andMe.
- This is not a new discovery, per se. It was known and previously believed to occur in 1 of 3,500 births, but that frequency has been updated to 1 in 2,000 in the paper.
- Uniparental disomy was found in 1 of 50,000 people on TWO CHROMOSOMES.
- This is NOT the reason you have more maternal or paternal matches, in general. Legitimate reasons for more matches on one parent’s line include the fact that one family or another historically has more or fewer descendants, more or fewer dead ends, recent immigrants, ancestors from regions where DNA testing is not popular and/or endogamous populations.
- The people included in the research were trios where the tester and their parents have all 3 tested.
- Many/most people with uniparental disomy have no known health issues.
- The testers have in some cases been associated with some conditions, as described in the paper and supplemental information.
- Of the people who carry this condition, more people carry a double maternal chromosome than a double paternal chromosome.
- Uniparental disomy occurs more on chromosome 16 than any other chromosome, twice as often as the second highest, chromosome 7, with 40 and 20 occurrences each, respectively. Chromosome 18 had none. No, no one knows why.
- It’s not necessary for the entire chromosome to be duplicated. In some cases, only part of the chromosome is improperly combined.
This Atlantic article provides an overview:
This academic paper in Cell is referenced in The Atlantic article and is where the meat of the information is found. Be sure to look at the supplemental files too.
Much of the data for the article was from 23andMe who discussed this study in their blog here.
What About You?
Do you have a chromosome that has experienced uniparental disomy? Probably not, but there’s a very easy way for you to find out.
If you have a duplicate chromosome, or portion of a chromosome from one parent, the genetic genealogy “indicator” that you’ll see is called ROH, or Run of Homozygosity. This condition occurs in situations where you have a duplicate chromosome, or where your parents are related to each other
- The first question to ask yourself is whether or not your parents are related to each other. If so, you will have some ROH segments.
- The second question is whether you have an entire duplicated chromosome when your parents aren’t related.
In order to answer both questions, we use the tool at GedMatch called “Are your parents related?”
Are Your Parents Related to Each Other?
You’ll need to establish an account at GedMatch and upload your DNA results from one of the testing vendors.
Here are instructions for how to download from the various vendors:
- Ancestry Step by Step Guide: How to Upload-Download DNA Files
- 23andMe Step by Step Guide: How to Upload-Download DNA Files
- MyHeritage Step by Step Guide: How to Upload-Download DNA Files
- Family Tree DNA Step by Step Guide: How to Upload-Download DNA Files
Using the “Are your parents related” Tool
To use this tool at GedMatch, after your uploaded kit is finished processing, click on “Are your parents related?” and enter the kit number of the person you want to evaluate. I’m assuming for this discussion that person is you.
Normally, we use this tool to determine if someone’s parents are related to each other. We find this occurring in endogamous populations or where cousins married in the past few generations, as happened rather routinely in history.
In those situations, across all of a person’s chromosomes (not just one), we find relatively small segments of common DNA inherited by the person on both their maternal and paternal copies of each chromosome.
These matching areas are called ROH or “runs of homozygosity” meaning that the DNA is identical on both chromosomes for short segments, as shown above in the regions where the top bars are solid green and the bottom bar is solid blue.
The legend for reading the graphic is shown below.
The chromosomes of a person whose parents are not related is shown below. Notice that there are no significant green bars on top, and no blue bars on the bottom.
Simple chance alone is responsible for tiny segments that are identical, like those tiny green slivers, but not larger segments over 7cM as shown in the first example and marked by blue on the bottom.
For someone that has a fully duplicated chromosome, meaning uniparental disomy, we see something different.
A Duplicate Chromosome
For someone that has a duplicate parental chromosome, all of their chromosomes look normal except that one entire chromosome, or a very large segment, is entirely identical.
Below is an example of a person whose chromosome 7 is duplicated. The rest of this person’s chromosomes looked like the image above with only tiny green slivers.
If you have a duplicate chromosome, you’re rare, one in every 2,000 people in the populations studied.
If you have two identical chromosomes, you’re hen’s teeth rare – 1 in 50,000.
If you have uniparental disomy, you probably have no idea. You can also experience uniparental disomy when most of, but not all of a single chromosome is duplicated.
If you have duplicate parental chromosomes, you’ll match people on both sides of your family normally on all of your OTHER non-duplicate chromosomes. On your duplicate chromosome, you’ll only match people from the parent whose chromosome is duplicated.
In other words, this is NOT why you seem to be missing matches from one side of your family generally. You’ll need to look at other reasons to explain that.
If you have a duplicate chromosome, or large segment of a duplicate chromosome, leave a comment.
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You don’t really make this clear, except by implication. There are two things that could happen: 1) the two chromosomes came from both chromosomes of the same parent, 2) the two chromosomes come from a duplicated chromosome from one parent.
Actually, the real scenario is probably a third: the chromosome is duplicated AFTER crossing over, so doesn’t match a chromosome of either parent but matches part of one chromosome of one parent and its partner from the the same parent for the rest of the chromosome.
There’s a great graphic in the paper about the various options and the process called trisomy rescue that attempts to “fix” the problem.
Question can this be looked at through my brother’s DNA with my Mom since my Father has been gone for several years now. Could I treat my brother’s DNA just like my Father in this scenario…just curious.
I suspect that some how my parents were related through ancestry
No, because your brother will carry one half of your father’s SNA. Just look at your own.
Okay, one of my adopted (twin) daughters has 12 large blue and green segments and the other has eight Someone gave me a great explanation in 2015. I do not want to post their #s public, so contact me if you are interested in seeing them.
I noticed the comment that this is most likely to happen on certain chromosomes. I read an article in which it said that much of the Neaderthal DNA that has survived is found on Chromosome 16. I cannot for the life of me find the article. Maybe someone else remembers it.
I just wondered if maybe that is how it happens that we have as much Neanderthal left as we do.
Fascinating. Thanks for sharing as always.
Roberta, first, thank you for your blog! I love your writing and your explanations.
I just received an invitation to join MyHeritage at half price. Can I do this through
you? Let me know before the 28th. Thanks. Martha Y.
I don’t think so. But click the subscription link at the bottom of any of the posts and see. Thank you.