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Having defining mutations for more than one haplogroup?

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  • Having defining mutations for more than one haplogroup?

    Hi,
    I'm administering a kit that has the defining mutations for D1: C2092T and T16325c but also the defining mutations for D4: G3010A, C8414T, C14668T
    Thus belonging to two haplogroups simultaneously. Can anyone find a reasonable explanation for how this could happen?

  • #2
    How?

    That part is easy. Mutations are random, they do not obey any classification schema. Those mutations just happened.

    How would that be classified is a much more difficult question. I can see a lot of convergence with mtDNA, but never read a clear explanation how the haplogroup assignment is handled in such cases. I am imagining that other mutations are taken into account.


    Mr. W.

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    • #3
      D4: G3010A, C8414T, C14668T is parent branch of D1, As of the mtDNA tree Build 17 (18 Feb 2016)

      Kit will be positive for all defining SNPs for each parent branches going back to L1'2'3'4'5'6
      http://www.phylotree.org/tree/D.htm

      All D1's Will test postive for defining snps of each of the following Parent branches

      L1'2'3'4'5'6 - C146T C182T T4312C T10664C C10915T A11914G G13276A G16230A
      L2'3'4'5'6 - C152T A2758G C2885T G7146A T8468C
      L2'3'4'6 - C195T A247G A825t T8655C A10688G C10810T G13105A T13506C G15301A A16129G T16187C C16189T
      L3'4'6 - G4104A A7521G
      L3'4 - T182C! T3594C T7256C T13650C T16278C
      L3 - A769G A1018G C16311T
      M - T489C C10400T T14783C G15043A
      M80'D - C4883T
      D - C5178a T16362C
      D4 - G3010A C8414T C14668T
      D1 - C2092T T16325C
      And possibly any one of the deeper child subclades of D1 if one does Full Sequence Mtdna testing, if not already done.
      Last edited by prairielad; 22nd May 2018, 11:47 PM.

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      • #4
        Thanks prarielad, that explains it. But how come D1 is not following standard nomenclature which would give it a name like D4x? Haplogroups are confusing enough as it is without exceptions to the rule.

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        • #5
          Originally posted by hagglund View Post
          Thanks prarielad, that explains it. But how come D1 is not following standard nomenclature which would give it a name like D4x? Haplogroups are confusing enough as it is without exceptions to the rule.
          In a previous build, D1 was thought to be a child branch of D, but with the progression of sequencing mtDNA, and the more people testing, they have determined it (D1) is actual child branch of D4.

          Most times they do not rename the branch just move it to corrected positions, along with each of its child branches, to avoid confusion between the subclade names between builds.
          ie)if determined to be D1, you will still be D1 in each new build. New builds rearrange known subclade branches to currently known corrected position and add newly found subclades.
          Last edited by prairielad; 23rd May 2018, 11:22 PM.

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          • #6
            I hope this time my post has some merit...


            Y DNA haplotree based on SNPs can be considered a true phylogenetic tree. No horizontal gene transferd. Although, due to convergence, loops are possible.


            mtDNA is small, and thus in my opinion, it cannot possibly be a true phylogenetic tree. Even with the horizontal gene transfer being unlikely.

            http://www.phylotree.org/ is very useful for genealogy and medical research, but I do not consider it to be a true phylogenetic tree. Thus my earlier comment made without looking up D1 and D4.


            Mr. W.

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