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The Big Y and Genealogy

Roberta Estes

For the holidays, I want to talk briefly about one particular type of DNA that is tested, and why one might want to order that particular test.

I’ve seen questions this past week about the Big Y test, so let’s talk about this test today.

The Big Y Test

The questions I’ve seen recently about the Big Y mostly revolve around why the test isn’t listed among the sale prices shown on the Family Tree DNA main page.

The Big Y test is not an entry level test. The tests shown on the Family Tree DNA main page are entry level and can be ordered by anyone, at least so long as the Y DNA tests are ordered for males. (Females don’t have a Y chromosome, so Y tests won’t work for them.)

The Big Y test is an upgrade for a male who has already taken the regular 37, 67 or 111 STR (short tandem repeat) marker test. For those who are unfamiliar, STR markers are used in a genealogically relevant timeframe to match other men to search for a common recent ancestor and are the type of markers used for 37, 67 and 111 marker tests.

SNPs (single nucleotide polymorphisms) are used to determine haplogroups, which reflect deep ancestry and reach significantly further back in time.

Haplogroups are predicted for each participant based on the STR test results, and Family Tree DNA’s prediction routines are very accurate, but the haplgroup can only be confirmed by SNP testing. These two tests are testing different types of DNA mutations. I wrote about the difference here.

Different SNPs are tested to confirm different haplogroups, so you must have your STR results back with the prediction before you can order SNP tests.

The Big Y is the granddaddy of SNP testing, because it doesn’t directly test each SNP location, and there are thousands, but scans virtually the entire Y chromosome to cover in essence all known SNPs. Better yet, the Big Y looks for previously unknown or unnamed SNPs. In other words, this test is a test of discovery, not just a test of confirmation.

Many SNPS are either unknown or as yet unnamed and unplaced on the haplotree, meaning the Y DNA tree of mankind for the Y chromosome. The only way we discover new SNPs is to run a test of discovery. Hence, the Big Y.

It’s fun to be on the frontier of this wonderfully personal science.

Applying the Big Y to Genealogy

In addition to defining and confirming the haplogroup, the Big Y test can be immensely informative in terms of ancestral roots. For example, we know that our Lentz line, found in Germany in the 1600s, matches the contemporary results of Burzyan Bashkir men, descendants of the Yamnaya. I wrote about this here, near the end of the article.

Even more amazing, we then discovered that our Lentz line actually shares mutations with ancient DNA recovered from Yamnaya culture burials from 3500 years ago from along the Volga River. You can read about that here, near the end of the article. This discovery, of course, could never have been made if the Big Y test had not been taken, and it was made by working with the haplogroup project administrators. I am eternally grateful to Dr. Sergey Malyshev for this discovery and the following tree documenting our genetic lineage.

Our family heritage now extends back into Russia, 3500 years ago, instead of stopping in Germany, 400 or 500 years ago. This huge historical leap could NEVER have been made without the Big Y test in conjunction with the projects and administrators at Family Tree DNA.

And I must say, I’m incredibly glad we didn’t wait to order this test, because Mr. Lentz, my cousin who tested, died unexpectedly, just a couple months later. His daughter, when informing me of his death, expressed her gratitude for the test, the articles and shared with me that he had taken both articles to Staples, had them printed and bound as gifts for family members this Christmas.

These gifts will be quite bittersweet for those family members, but his DNA legacy lives on, just as the DNA of our ancestors does inside each and every one of us.  He gave all Lentz descendants an incredible gift.

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