Posted By:thomas caulley
Email:
Subject:Question about mutations
Post Date:February 20, 2013 at 11:39:16
Message URL:http://genforum.genealogy.com/dna/messages/4564.html
Forum:DNA Forum
Forum URL:http://genforum.genealogy.com/dna/

I recently had a Y-DNA test run at FamilyTreeDNA.com The results are puzzling for marker 385a in the Kirkpatrick Family. The Max count for the expected group is 18, minimum of 16 and mode of 17. The results from my test was 11, a mutation of -6. I asked FTDNA to recheck the reults as they seem WAY out of line. After 7 weeks of no answers, I re-emailed them and got the following reply:

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Thanks for your patience. I have heart back from our Y-DNA scientist in the lab regarding your question. Here is the official conclusion:

The value is correct, and your DYS385 (a/b) result is indeed 11-17. She has stated that the others have 17-17 most likely because they probably had a recLOH event (recombinational loss of heterozygosity) in their family. They lost the short value (11 or maybe 12) which got replaced by a 2nd value of 17. Males with 16-17 or 17-18 results had a recLOH event first and then one of their 17s mutated up or down. This all might happen many generations ago.

I hope this helps!

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Can anyone explain/translate this into English???

Thanks

Tom C