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MtDNA H1a mutation 16343G

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  • MtDNA H1a mutation 16343G

    I have taken the MtDNA Plus test and followed it up with the H subclad test.
    I am H1a with HVR1 mutations of 16051G, 16162G, 16343G, 16519C and HVR2 mutations of 73G, 263G, 315.1C.
    I have no matches under "MtDNA Matches" or "MtDNA Search".
    I have no Exact matches at mitosearch, but 5 people do match all mutations EXCEPT for the 16343G mutation.
    Maybe it is a more recent mutation that I may not share with others, and I plan on having my mother tested soon to see if she shares it as well.
    I was just wondering if anyone has come across any information on the 16343G mutation...

  • #2
    That's a very interesting example of homoplasy in haplogroups H and U3, and moreover, even in the H1 subclade.

    Your type slightly matches this one from Achilli 2004 paper:

    73-263-315.1C-750-1438-3010-4769-6320-8468-8860-9921-14978-15326-16051-16162-16259-16519

    accno AY738972
    http://www.ncbi.nlm.nih.gov/entrez/v...e&val=51894924

    which differs from H1a motif

    73-263-315.1C-750-1438-3010-4769-8860-15326-16162-16519

    at 6 sites:

    6320-8468-9921-14978-16051-16259

    There are at least 7 published complete H1a sequences that lack the above motif and have 6365-16209 instead. You see, such type is quite distant from AY738972 and, I believe, from your type too. On other hand, the following 3 sequences

    162-209-343
    162-209-231-343
    162-209-343
    (Tunissian)

    from Plaza et al. 2003 paper share your transition at 16343 despite of having 16209, which is indicative of another branch of H1a!

    As to matches, here are all the published sequences with 162-343 from my database. Most of them were classified as U3, but only one of the authors supplied the sequences with rflp results, it was Babalini et al 2005 paper (Italians Lazio 129-162-343 has +12308HinfI so it falls into U3 not into H)

    Shetland, Goodacre 051-162-311-343 16010-16450
    Tata, Plaza 162-209-343 16024-16383
    Tata, Plaza 162-209-231-343 16024-16383
    Tata, Plaza 162-209-343 16024-16383
    Caucasian, Armed Forces Lab 051-162-343 73-263-315.1C 16024-16365; 73-340
    English, Helgason 051-162-343 16024–16400
    Italians Lazio 129-162-343 73-150-185-263-317 16024-16400; 30–408
    Jordanians 162-166-343
    Jordanians 162-343
    Norway, Helgason 051-093-162-343 16024-16400
    Scottish 051-162-343 16024-16400
    Turkey, Comas 162-343 16024-16401
    Last edited by vraatyah; 17 December 2005, 11:11 AM.

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    • #3
      If you have it, also your mother have it.

      Originally posted by sterlingnotes
      I have taken the MtDNA Plus test and followed it up with the H subclad test.
      I am H1a with HVR1 mutations of 16051G, 16162G, 16343G, 16519C and HVR2 mutations of 73G, 263G, 315.1C.
      I have no matches under "MtDNA Matches" or "MtDNA Search".
      I have no Exact matches at mitosearch, but 5 people do match all mutations EXCEPT for the 16343G mutation.
      Maybe it is a more recent mutation that I may not share with others, and I plan on having my mother tested soon to see if she shares it as well.
      I was just wondering if anyone has come across any information on the 16343G mutation...

      Comment


      • #4
        a couple of words on how one can explain this.

        It's more likely that Jordanian and Turkish samples fall into U3 and Jordanian one actually possesses 162 plus 166d (it must be a deletion! clerical error in my database?)

        As for Plaza's samples, if they are really in H1 and not in U3, there are 2 possibilities:

        1) the transition at 16051 was missed, so only 16209 is still homoplasious

        2) 16209 is phantom

        I think both

        if it's the case, all H1s with 343 also have 051 and the actual pathway was

        162 -> 051 -> 343,

        as expected from the variations in majority of H1a sequences.
        Last edited by vraatyah; 17 December 2005, 12:14 PM.

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        • #5
          Wow... I didn't expect that much of a response.
          Thank you very much.

          I'm not sure that I agree with Noaide though...
          Although it is most likely that she has it, you never know when a mutation might occur. I plan on testing her to confirm it, if nothing else than for my own piece of mind.

          Thanks again for your responses!

          Comment


          • #6
            Originally posted by sterlingnotes
            I'm not sure that I agree with Noaide though...
            Although it is most likely that she has it, you never know when a mutation might occur.
            in hvs1, the average rate is 1 transition per 20000 years. At least 5 individuals of haplogroup H1a share all your mutations, look at English, Norway and Scottish sequences. They are from the published studies, not from the anonymous mitosearch entries.

            The only thing puzzling me is the presense of 343 in several distinct clades. As to your own sequence, it has exact matches, so it's more likely there was no sequencing error.

            What other kind of arguments do you want?
            Last edited by vraatyah; 24 December 2005, 05:29 AM.

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            • #7
              I guess I've no more arguments...
              I'm no match for you vraatyah, thanks again for all of your help...

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