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MtDNA...how do you read mutations?

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  • MtDNA...how do you read mutations?

    And can it be applied to DeCodeMe's raw data?
    I found this link: http://www.genebase.com/blog/?p=41
    Which shows mutations to assign you to a particular group so I thought I'd check them against my raw data and am I right in saying that this table is suggesting that if you have a G at 1438 then you are H2?
    The table says 1438 A>G H2 my raw data says 1438GG
    But then I get confused because there is also 3010AA on the raw data and 3010 G>A H1 and also 4769 A>G H2a and on my raw data 4769 GG
    which says to me I'm H1 and H2a!! I don't see how I can be? Is it as simple as that?!

    Are these mutations exclusive to H subgroups or can other mitogroups share them?

  • #2
    I'm not an expert on H, so somebody else should pitch in, but it almost looks like this page has got H2 wrong, 1438G and 4769G should be the usual values _outside_ of H2, at least according to Ian Logan's webpage.

    Perhaps there's some confusion because CRS belongs to H2, so they may have gotten things reversed.

    Apart from that, certain SNP may, rarely, happen in other haplogroups as well. For instance, I think 3010A can happen elsewhere, as in H3. But if there's no H3 mutation, then it is usually taken to be a sign of H1.

    cacio

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    • #3
      I would get SNP tested, just to be sure.

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      • #4
        What's SNP testing and how is this different to DeCodeMe?

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