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Seeking mtDNA haplo H expert feedback...

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  • Seeking mtDNA haplo H expert feedback...

    My father's mtDNA results came back as haplogroup H, with HVR1 mutations of 16111T and 16519C. We have not tested his HVR2 or FGS.

    My question is how a determination of haplo H was made given these two mutations. I understand from reading elsewhere that 16519C is a 'fast moving' marker, and not necessarily all that helpful for determining haplogroup. That leaves 16111T as potentially meaningful, and I do not see anywhere on FTDNA's haplo mutation map where 16111T fits in with haplogroup H. I found one other haplo H subgroup chart that lists 16111 as a mutation sometimes found in H8, but that was the only mention of it associated with H that I came across.

    So, given this mutation, how does one decide that he is haplogroup H? Is it simply the absence of other mutations (from CRS) that would place him in haplogroups other than H (i.e. process of elimination)?

    Appreciate any feedback from those more familiar with this haplogroup.

  • #2
    At least in theory, FTDNA tests specific coding region (ie outside HVR) mutations for a few haplogroups, and H is one of them. So the assignment is not done on the basis of HVR in this case. Other companies don't do this, they only look at HVR and then assign to a haplogroup based on similarities with other data and likelihood (so lack of specific mutations together with the fact that H is the most frequent usually lead to a H assignment).

    I'm no expert on H, but I would agree with you that 16111 has probably happened more than once in H and so is not indicative of any specific subhaplogroups.

    cacio

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    • #3
      Originally posted by westpa View Post
      ..So, given this mutation, how does one decide that he is haplogroup H? Is it simply the absence of other mutations (from CRS) that would place him in haplogroups other than H (i.e. process of elimination)?

      Appreciate any feedback from those more familiar with this haplogroup.
      CRS is H, FTDNA uses an initial test of 22 SNPs to determine your initial haplogroup assignment (2706A, 7028C would be H). Unless known mutations in HVR1 and HVR2 identify you as different haplogroup it is most likely you will remain in H if you started there.
      Last edited by mkdexter; 25 April 2010, 10:59 PM.

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      • #4
        bottom line, upgrade...

        Cacio, mkdexter: appreciate the feedback. I do recall now reading that they test 22 SNPs for backbone haplogroup placement, therefore some of the data used for assignment is not from the HVR1 test. So FTDNA has this data on the 22 SNPs, but does not provide it to the customer.... unless you pay for the full sequence.

        Now, as I understand it, CRS=H2a2. And though I have only two differences from CRS (and these differences do not place me within a yet identified subgroup) this does not necessarily mean that I am H2a2. Mutations in HVR2 and the coding region could place me in a more specific subgroup, correct?

        Appreciate the input from others as I learn here.

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        • #5
          If you are assigned to H, implicitly you know the results for the 20 or so coding region SNPs - you have the mutations for H, and you don't have the mutation for the others.

          As for subgroups of H, you can check the following link:
          http://www.phylotree.org/tree/subtree_R0.htm

          as you see, subgroups are usually defined by coding region mutations. Very rarely are HVR1 or HVR2 informative about a subgroup. In other words, ordering HVR2 most likely won't tell you much - if you want, you should rather save for the full sequence.

          Theoretically, you could be H2. However, that's not the most frequent subgroup of H. In addition, H has a huge number of subgroups, with many people on a branch of their own (that is, you could even be part of none of the groups listed in the page above).

          cacio

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          • #6
            In terms of family tree research with a DNA adjunct you would essentially be related to everybody within 1300 years.. so to speak... if you could not test more HVR regions and refine your data so I think the added tests are more for the purpose of refining your results and matches.

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