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Thread: rare mutations

  1. #1
    Junior Member
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    Country: Austria



    rare mutations

    hello,

    does somebody know something about these rare mutations on hg h background?:
    2325.1T, 5252A, 5585A, 15311G, 15394C

    regards
    mrh

  2. #2
    Satyavrata Maciamo's Avatar
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    Hi,

    None of these mutations are currently listed in the 2009 Phylotree (the most complete mtDNA tree available). So they must indeed be rare mutations. The fact that they are in the coding region and not HVR makes it all the more interesting. Are you considered H* at present ? If so, your mtDNA might very well become a new subclade if they find someone else (unrelated to you) at least one mutation in common.
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  3. #3
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    thank you for your interesting answer!!!!!

    i was considered being h*,
    after subclade explorings they put me to the
    not assigned members and they say i am h
    do you understand this

    other questions:

    - if i have differences from crs at a certain place, 263, 750, 1438, 4769, 8860 and 15326, it should qualify me for h2a2a, but i do not have the "right" letter behind (G instead of A), what does this mean? in the tree you dont see the letters, you only see the numbers ...

  4. #4
    Satyavrata Maciamo's Avatar
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    Quote Originally Posted by mrh View Post
    other questions:
    - if i have differences from crs at a certain place, 263, 750, 1438, 4769, 8860 and 15326, it should qualify me for h2a2a, but i do not have the "right" letter behind (G instead of A), what does this mean? in the tree you dont see the letters, you only see the numbers ...
    There are four letters used in DNA : A, C, G and T. Haplogroups are determined by the number of mutations compared to the CRS (= haplogroup H2a2a). For example, the CRS has letter C at position 7028. If you have T instead, you are not H2a2a. If you have different letters from the CRS at 263, 750, 1438, 4769, 8860 and 15326, your haplogroup is H*. What they mean is that instead of having a mutation from C to T, you might have an unexpected letter somewhere (a G or an A in the case of 7028).

    Which mutation does not have the right letter ?

  5. #5
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    Country: France



    Hello,
    I am having the same problem as mrh and am still puzzled after Maciamo's answer. In short the following applies: 263G 2706A 7028C 1438G 4769G 750G 8860G 15326G. I suppose it would classify as H*, since all except 2706 and 7028 deviate from CRS. But is this correct: sometimes I understand that this would actually classify as H2a2a. (it is sometimes implied that one should have the mutation to classify as H2a2a, which does not seem logical since one cannot have mutations from and stay the same as CRS at the same time)
    H* or H2a2a, that's the question..?
    Last edited by Joannis; 13-02-11 at 18:13.

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