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  • mtDNA HV1 & HV2 results?

    Hello,

    I had the extended (HV1 & HV2) mtDNA test by FTdna & below are listed the mutations & haplogroup.

    HVR1 Haplogroup
    --

    HVR1 Mutations
    16093C
    16189C
    16368C
    16519C

    HVR2 Mutations
    263G
    315.1C

    Earlier the chart had ** for Haplogroup because they couldn't place mtDNA in a group with any confidence yet & said they would post it when they figured it out. So I ordered the HV2 test to help it out. Now I've gotten those results back & it now shows as the HV1 Haplogroup --.

    My question is this:

    Does this mean they are unable to assign the sample to a Haplogroup given the information they have about their current database?

    Thanks for any insight. I wasn't able to find any key to what -- means in the PDF for this this or the page its located in the myFTDNA mtDNA tab.

    Best Regards,
    John

  • #2
    Re: mtDNA HV1 & HV2 results?

    Originally posted by B52
    Hello,

    I had the extended (HV1 & HV2) mtDNA test by FTdna & below are listed the mutations & haplogroup.

    HVR1 Haplogroup
    --

    HVR1 Mutations
    16093C
    16189C
    16368C
    16519C

    HVR2 Mutations
    263G
    315.1C

    Earlier the chart had ** for Haplogroup because they couldn't place mtDNA in a group with any confidence yet & said they would post it when they figured it out. So I ordered the HV2 test to help it out. Now I've gotten those results back & it now shows as the HV1 Haplogroup --.

    My question is this:

    Does this mean they are unable to assign the sample to a Haplogroup given the information they have about their current database?

    Thanks for any insight. I wasn't able to find any key to what -- means in the PDF for this this or the page its located in the myFTDNA mtDNA tab.

    Best Regards,
    John
    Hi John,

    We will assign a Haplogroup. It may just take a little longer.
    Max Blankfeld
    Vice-President and COO @ Family Tree DNA
    A Gene by Gene Company

    Comment


    • #3
      Hey Max,

      OK, I thought all that came back with the results.

      Best Regards,
      John

      Comment


      • #4
        You can "estimate" it your self an await the experts better answer
        Look at this chart
        http://www.journals.uchicago.edu/AJH...2593/fg2.h.gif

        Find the CRS box in the lower middle
        Tick off the mutations as you move[ignore 315 and 16519]
        263 moves you to 8
        16093 move toward 2 o'clock
        16189 move to the circle with 12 13 14 15
        Now we are stuck NO 16368
        So pencil it in as a new branch and guess you are H1

        Comment


        • #5
          Hello JSW,

          Thanks for the help. Oxford also said an outlyer in the neighborhood of H. Personally I'm a little uncomfortable saying that a group (H) that is only supposed to be about 20,000 years old has members who have 5 mutations (& I've heard others even have more). What I've read said on average only 1 mutation occurs in 20,000 years. But I suppose the explanation is an oversimplification for people like me, who don't have the time or inclination to thouroughly investigate and understand all the science behind this.

          Best Regards,
          John

          Originally posted by JSW
          You can "estimate" it your self an await the experts better answer
          Look at this chart
          http://www.journals.uchicago.edu/AJH...2593/fg2.h.gif

          Find the CRS box in the lower middle
          Tick off the mutations as you move[ignore 315 and 16519]
          263 moves you to 8
          16093 move toward 2 o'clock
          16189 move to the circle with 12 13 14 15
          Now we are stuck NO 16368
          So pencil it in as a new branch and guess you are H1

          Comment


          • #6
            John
            You really only have 3 mutations from H of 20,000 years ancestry to you
            They are 16093 16189 and 16356
            The CRS (person) also has 3 in 20,000 years
            263, and probably 315 and 16519 (the last two are not clear to me
            as to where they come from)
            Some sites mutate faster than other.

            Comment


            • #7
              Hey John,

              OK, thanks. But what are the Deletion & Mutation in HVR2? These are not used in the group assignment I take it.

              Best Regards,
              John

              Comment


              • #8
                John
                I just happened on these number
                In the OA data base there are 2247 Helena entires
                ~700 have no mutations, ~800 1 mutation, remainder 2-7 mutations

                So you are in the range of all the other

                RE "But what are the Deletion & Mutation in HVR2? "
                Actually HVR1 and HVR2 are not what "define" Haplogroups
                Example 7025- AluI defines H
                What is going on is that HVR1 has a high correlation to the
                actual group and are now used along with the others.
                That is why the cannot say for "sure" you are H from the measurement you got-- they did not measure 7025- AluI
                HVR2 is now getting a bigger attention as people are looking
                for more "detail" that just Haplogroup.
                Some of the defining mutations can be found here
                http://www.mitomap.org/cgi-bin/mitomap/tbl5gen.pl
                At least that is my understanding today Max can correct it if I am wrong.

                Comment


                • #9
                  Hey John,

                  Thanks. OK, then the 2-7 mutations means those estimates of 1 mutation on average per every 20,000 years or that Helena is approximately 20,000 years old (to a layperson 'approximately' wouldn't approach 15,000 or 25,000 in my view) I saw are wrong. I guess it really helps to keep in mind that until much better estimates on mutation rates are known, that everything I read is only the very roughest of estimates.

                  Best Regards,
                  John

                  Comment


                  • #10
                    Hey B52 I JUST WANTED TO SAY THAT MY HVR1 MUTATIONS ARE 16189C, 16258G,16263C,16288C,16362C AND MY HAPLOGROUP IS H . I SAW YOU HAD 16189C IT IS GOOD TO SEE SOMEONE WITH ONE OF THE MUTATIONS I HAVE. EVEN IF IT WAS SEVERAL THOUSAND YEARS AGO. I HAVE NOT MATCHED ANYONE IN THE DATABASE TO THIS DATE. IT TOOK WEEKS JUST TO GET MY TEST BACK .

                    Comment

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