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  • Heteroplasmy

    I believe that two of my coding region mutations are heteroplasmies: T7310Y & A11172R

    Explanation: "Like other types of mitochondrial DNA (mtdna) mutations, heteroplasmy is written with the original value, the location of the mutation, and the new(mutated) value. For example, a heteroplasmy at position 73 where the heteroplasmic values are A or G is written as G73R."

    If these mutations are ancestral, hopefully I can determine the geographic location or something else about them.

    These two mutations are the reason I have two 2 step matches, who were perfect matches at the HVR1 & HVR2 levels.

    Best regards, Douglas W. Fisher, Kit #122883

    Paternal: U106+Z18+Z14+Z372+
    Maternal: V19

  • #2
    I understand better now.

    I emailed the V project gurus, and they gave me some good info.

    "Your 2 different mutations are T7310Y & A11172R in your coding region. They are heteroplasmy, which is the presence of different alleles to the same position. R means a purine that can be A or G. Y means a pyrimidine that can be C or T. Probably those mutations are very recent: they have not finished their mutational process. So I think they cannot reveal any interesting information about your maternal ancestor."

    In addition, they sent me a V19 tree, showing my placement in the V19a1 position, all by my lonesome. Maybe someone will match me closer in the near future.

    Best regards, Douglas W. Fisher, Kit #122883

    Paternal:U106+Z18+Z14+Z372+
    Maternal: V19a1

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    • #3
      I have 2 Heteroplasmies also

      I have 2 Heteroplasmies for Haplogroup H10, my paternal grandmothers family from somewhere in Germany. Not much info on Haplogroup H10 either.

      Todd

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      • #4
        Interesting

        Originally posted by tab1968 View Post
        I have 2 Heteroplasmies for Haplogroup H10, my paternal grandmothers family from somewhere in Germany. Not much info on Haplogroup H10 either.

        Todd
        I hope that both of us are able to find out more info in the near future. For now I am looking at family tree info from my matches, and hoping to find links, figure out common ancestors.

        Best regards, Douglas W. Fisher, kit#122883

        Paternal: U106+Z18+Z14+Z372+
        Maternal: V19a1

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        • #5
          Hey! Another heteroplasmy mutation here. i have these two:
          C7280Y​​
          A16240W
          H1 haplogroup.

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          • #6
            Originally posted by Kropej View Post
            Hey! Another heteroplasmy mutation here. i have these two:
            C7280Y​​
            A16240W
            H1 haplogroup.
            Interesting, from what I have been told, a heteroplasmy is a mutation not fully matured so it does not count the same as a fully matured mutation. My closest Mtdna match has one of my heteroplasmies, and our common ancestor lived about 250 years ago, so in Colonial times. If someone has a one step difference with someone, their common ancestor could have lived about 1,500 years ago, so if you only mismatch with a heteroplasmy or two, I guess that is not a bad thing.

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            • #7
              As part of my initial testing in March 2004 my HVR 1&2 were shown to be H1 with no '0' matches. This was upgraded to FMS level in 2007 and determined to be H1a with one heteroplasmy - still no '0' matches. Fast forward to 2016 when a male 2nd cousin agreed to be tested and was found to be an exact match except for his not showing the heteroplasmy. His descent is via an older sister to my maternal grandmother. We consider this to be an exact '0' match. Next, in January 2020, another person tested as a '0' match to my cousin and a '1' match to me. Unknown at this time as to when and to whom the connection is to be found. These matches are all through our Norwegian lineages. Something I never expected to see!
              My Norwegian maternal grandmother was born in 1874 so it appears the half-hatched heteroplasmic mutation occurred either at my mother's or my own conception? Quite interesting to have observed over a period of 16 years.

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              • #8
                Originally posted by Bill Harvey View Post
                As part of my initial testing in March 2004 my HVR 1&2 were shown to be H1 with no '0' matches. This was upgraded to FMS level in 2007 and determined to be H1a with one heteroplasmy - still no '0' matches. Fast forward to 2016 when a male 2nd cousin agreed to be tested and was found to be an exact match except for his not showing the heteroplasmy. His descent is via an older sister to my maternal grandmother. We consider this to be an exact '0' match. Next, in January 2020, another person tested as a '0' match to my cousin and a '1' match to me. Unknown at this time as to when and to whom the connection is to be found. These matches are all through our Norwegian lineages. Something I never expected to see!
                My Norwegian maternal grandmother was born in 1874 so it appears the half-hatched heteroplasmic mutation occurred either at my mother's or my own conception? Quite interesting to have observed over a period of 16 years.
                Thank you for sharing your story with me. Since I posted, I have discovered a niece, whose paternal grandfather was my birth father, and also a great nephew, whose paternal great-grandfather was my birth father. I know who my birth mother is, but she is not open to contact, in which I understand, as I have learned of the sad story of my birth parents. I know who my late maternal grandmother was, she lived 1915-1949, my birth mother was born 1941, and I was born 1958. If one of my birth mother's full siblings were to do the mtdna testing, then they might have both of my heteroplasmies, or maybe I am the only one that has both?

                Best regards, Doug
                Kit#122883

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