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    My mother-in-law did an mtDNA test and I am confused about the matches. Her Haplohroup is H5e1. When I go to matches with HVR1, HVR2 and coding on there is one person with a genetic distance of zero. If I switch to HVR1 I get a whole lot more with zero genetic distance, ditto HVR2. But I don't understand what mutations differ with these people and why they are not in a different haplogroup is they are genetically different. At what level of difference is a new haplogroup made? And how can I find out which areas a person with a genetic distance of one differs on?

    Also, at a maximum how far different is this person with zero genetic difference?

  • #2
    Your mother-in-law took the mtDNA Full Sequence test, since you can see her matches including the Coding Region. Her matches at the HVR1 and HVR2 levels will show, even if they have not tested at the mtDNA Full Sequence level; but only the ones who match her exactly (zero distance) at those levels are shown. See the link and excerpt at the bottom of this post.

    There is a table on the Maternal Lineage Tests page in the FTDNA Learning Center (also shown on the "How do I tell how closely I am related to a mitochondrial DNA (mtDNA) match?" page), showing the estimated Generations to Common Ancestor, but the estimates it gives are probably on the generous side. It shows that a Full Sequence match, even at the zero genetic difference level, may be related within 125 to 500 years (but it can be more). If the lower level matches have tested to the Full Sequence level, but do not show as matches to your mother-in-law there, then the common ancestor is very long ago, possibly thousands of years ago.

    Concentrate on your mother-in-law's Full Sequence matches. Even with Full Sequence, you should not regard the mtDNA matches the same way as you might with Family Finder matches. In FF, you are "fishing;" in other words, seeing who turns up that may have an identifiable ancestor in common. mtDNA matching doesn't usually work that way; it is best used to prove a relationship between two people. At least, that is how it is now. That may change as more people test their mtDNA. But, you may find an identifiable common ancestor sometimes. It all depends on if someone with a common ancestor has taken an mtDNA test.

    You can view the mtDNA tree for the H haplogroup, to see where your mother's subclade and those of her HVR1 and HVR2 matches fall. The Phylotree website will show the defining mutations for each mtDNA subclade. Haplogroup H is under R, then R0, at Phylotree. Use your browser's "Find" feature to find where H5e1 is on the page for Haplogroup H, and then compare at what higher level her HVR level matches are. FTDNA also has a page to look up the required mutations for mtDNA haplogroups. You may also find the Wikipedia page for "Human mitochondrial DNA haplogroup" informative.

    Besides looking up the subclades shown for your mother-in-law's matches to see at what level they differ, the only way to see a match's further personal mutations is to contact them and ask them to share. This is because some mutations may reflect medical conditions, so are not shown to others for privacy reasons. This is not really needed, as you can determine why they are in a different subclade by the methods shown in the previous paragraph.

    From the FTDNA Learning Center "mtDNA - Matches Page":
    On the mtDNA - Matches page, are only exact matches shown?
    There are currently two sets of rules for mtDNA matching.
    • For those who have tested HVR1 (mtDNA) or HVR1 and HVR2 (mtDNAPlus), only exact matches are shown. SmartMatching is also used to prevent a match between different haplogroups.
    • For those who have tested the mtDNA Full Sequence (mtFullSequence), three differences are allowed. These differences include cases of heteroplasmy. Two high frequency insertion/deletion locations are completely excluded from difference counts. These are mutations at positions 309 and 315.
    Last edited by KATM; 23rd April 2019, 02:02 PM.

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    • #3
      Added to illustrate:
      • Per the Reconstructed Sapiens Reference Sequence (RSRS), the path for your mother-in-law in the mtDNA tree is: L1'2'3'4'5'6 > L2'3'4'5'6 > L2'3'4'6 > L3'4'6 > L3'4 > L3 > N > R > R0 > HV > HV0 > H > H5'36 > H5 > H5e > H5e1. She will have the defining mutations for each of those branches in her mtDNA results. The L clades are 130,000-200,000 years ago, N, R and R0 are about 55,000 to 90,000 years ago, and H is 30,000 to 55,000 y.a. You can get an idea of the more recent ages and locations for the subclades of H at the H Haplogroup (mtDNA) page at Expedia. Overall, Haplogroup H is the most common mtDNA haplogroup in Europe.
        • Your mother-in-law's defining mutations, for H5e1, are A8343G and G12771A.
        • Some of her matches might be in the H5e subclade, with defining mutation C16294T. Your mother-in-law will have this mutation, also, since H5e1 is a sub-branch of H5e.
        • H5 has defining mutation of T16304C. This continues up the line through H5'36 (mutation C456T) and back to H (mutations G2706A and T7028C). Your mother-in-law should have all of these mutations, but her HVR1 and HVR2 matches that do not have them all will NOT continue on to be in the H5e1 subclade.
      Last edited by KATM; 23rd April 2019, 02:42 PM.

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