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"A Very Unusual Occurrence"

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  • "A Very Unusual Occurrence"

    Bennet Greenspan sent me this email in response to my question of test status...

    >>>Your mtDNA is CRS, meaning that you have no deviations from the Cambridge Reference Sequence. Most folks then 'call' that sample as Haplogroup H(because 95% of CRS people are in Haplogroup H. but we know that it could be U or HV or R and just not have any mutations in the coding region. In your case you fell in the 5% category...you sample came back as CRS yet - for H and -for HV, but it was + for R...Based upon this rather (very) unusual situation the lab ran your DAN a third time to ensure it was correct...and it was...so you are CRS and Haplogroup[p R...a very unusual occurrence.<<<

    I am very confused. Haplogroup H is usually from the west correct? and Haplogroup R is Eastern European more or less?

    How can I be and R in an H?

    >>>In fact you are the first R that matchers the CRS exactly.<<<

    From what I understand the CRS came from a scientist that was an H. If I match the CRS does that mean my DNA matches that scientist?

    As you can see I am totally confused.

    My mother was adopted so my main immediate concern is to more or less place her somwhere in the world while she is still alive. Eastern Europe? Western Europe?

    My mtDNA Anonymous Search shows no R's at all! Just h, h1, h10, h11, h2, h2b, h3, h4, h4a, h7, hv, u, and v.

    So can anyone explain all this?

    Thank you very much.

    Richard

  • #2
    I think that you deserve a more detailed explanation from FTDNA, but let me take a crack at this:

    The mtDNA haplogroups are defined by certain specific mutations. Originally, these were identified as what are called RFLP sites, specific sites where DNA is cut by certain enzymes that recognize a particular short DNA sequence. More recently, as entire mtDNA molecules were sequenced, some of those definitions have been reworked to include direct sequence data rather than RFLP data. The group definitions from RFLP and those from direct sequencing can sometimes be hard to reconcile.

    Within a haplogroup, it is possible to have other mutations. Not every mutation in your mtDNA defines a haplogroup. Now, the CRS is not free of mutations; it is a *reference*, used as a convenience for comparison. The individual who provided that was known to be haplogroup H, presumably identified by RFLP testing. Most people who match his mutations (i.e. have no differences from him in the region tested) also belong to group H.

    What I understand Mr. Greenspan to be saying is that the CRS is usually found in H, but is not diagnostic of it (does not define it; the same sequence can be found in other haplogroups). Although you have the same DNA sequence as Mr. CRS did in that part of your mtDNA, other mutations in your mtDNA that ARE diagnostic of your haplogroup (i.e., occur ONLY in that group) define you as an R. But you are an R with an unusual set of mutations.

    Hope this makes sense.

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    • #3
      Richard, haplogroup R* is very unusual in Europe but still present both in Western and Eastern Europeans.

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