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From: "David Wilson" <>
Subject: [DNA] New mtDNA FGS results -- H4a1a
Date: Wed, 11 Jul 2007 15:08:49 -0700


FTDNA today reported to me the full genome results on my father's mtDNA. He
and his matrilineal ancestors were H4a1a.

There are no known deleterious mutations in the results, so I don't mind
presenting them here along with a couple of thoughts.

HVR1:
CRS

HVR2:
73G 263G 309.1C 315.1C 522- 523-

CODING REGION:
750G 1438G 3992T 4024G 4769G 5004C 8269A 8860G 9123A 10044G 14365T 14582G
15326G

Following Ian Logan's chart of H4, these seem to break out as follows:

Trunk differences leading to H:
750G 1438G 4769G 8860G 15326G

Differences defining H4:
3992T 5004C 8269A 9123A

Differences defining H4a:
4024G 14365T 14582G

Defining H4a1:
10044G

Defining H4a1a:
73G

The universal mitomap chart does not seem to see things quite so crisply,
with a little uncertainty associated with the difference at 10044.

Looking only at HVR2, several H4 haplotypes show the change at 263,
insertions at 309 and 315, and deletions at 522 and 523. But the difference
at 73 is not so widely found, and now that I have followed these particular
bread crumbs through the forest of the H4 subclade, I think we can see why.
I should have seen this earlier, but with the standard HVR2 mutations in
evidence and no refinement testing in play, I suggest that the presence of
73G is by itself a very strong indicator of H4a1a. Absence of 73G indicates
an upstream clade, so the presence or absence of that difference from the
CRS by itself is quite informative for an H4; FGS or H-refine confirmation
would never be out of place, of course, but the possibility of such a
correlation seems worth taking seriously.

Ian's chart shows a few subvarieties below H4a1a defined by mutations that
were not found in my father's mtDNA. I do not know whether any of these
additional subgroups have been given clade labels, but if they have I
suppose the proper label for my father's results would be H4a1a*.

His earliest known matrilineal ancestor is Tabitha Howell, b. in North
Carolina in 1762. The surname Howell is predominantly found in Wales and SW
England, but that may not indicate anything about her mother's regional
origins. Among H4 haplotypes, the 73G mutation is found also in individuals
with ancestors in Cornwall, Scotland and Staffordshire. Similar haplotypes
without the 73G mutation are found in continental Europe. Perhaps the 73G
reflects fairly recent subclade origins in the British Isles.

David Wilson


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