shetlandmtDNADataH

SHETLAND ISLANDS MITOCHONDRIAL (MATERNAL LINE) DNA RESULTS

HAPLOGROUP "H"
(HELENA)

Name: JANE BROWN whose daughter MARY JANE BROWN was born 1857 in Lerwick
(kit # 23061).
Motif: 16293G, 16519G.
Subclade: Unknown.
Matches: In OA Database 20 matches, mostly England, plus one Sweden and France. In
FTDNA Database one each from England and Ireland; Macaulay Database one each
from North East Europe, North West Europe, Basque, and two Western Mediterranean;
Concordance Database one Basque, Finish, and Portuguese; McEvoy Ireland Study
includes two. Three exact matches in the 503 sample Shetland Goodacre database.

Name: MARGARET DAVIDSON born 1715 in East Yell (kit # OA-B6467).
Motif: Cambridge Reference Sequence.
Matches: In OA Database numerous matches; Macaulay Database and Concordance
Database too numerous to list but including matches, for example from Orkney (16) to
Tuscany (9); An astounding 55 of 133 of the haplogroup H samples in the McEvoy study
of Ireland were CRS. There were 102 exact matches in the Shetland Goodacre study
with a sample size of 503.

Name: ELIZABETH HOSEASON born 1810 Urie, Fetlar (kit # 21682).
Motif: 16304C.
FTDNA Database there are 120 exact matches; The Macaulay Database shows
numerous matches across all Europe; The Concordance Database has matches in
dispersed locations such as four Basques, three Norwegian, and two Swiss. It is clear
that this "mutation" is found in other haplogroups so the only way to obtain more
detailed information is to submit a sample from H sub-clade analysis (see elsewhere); In
the McEvoy Ireland study there were two exact matches. There are 15 matches in the
503 samples of the Goodacre Shetland Database.

Name: BARBARA MURRAY born 1781, Housabister, Nesting (kit #18699).
Motif: 16169T, 16299G, 16304C, 16519C.
Matches: A very rare haplotype. No matches in OA or FTDNA Databases; The
Macaulay and Concordance Databases make it abundantly clear that this signature is
found only in Orkney, and a private database has a single example from the Highlands of
Mainland of Scotland. In the Goodacre Shetland Database with 503 samples there are no
exact matches, but Dr. Wilson believes that 9 of the samples, which contain partial motifs
are variants of this rare haplotype. There is every possibility that this maternal signature
is aboriginal to Shetland and / or Orkney and the woman who carried it in circa 800 AD
married an incoming Viking.

Approximately 40 to 50% of the population of Europe is mtDNA haplogroup H. It is
also the grouping of the Cambridge Reference Standard (CRS) - the woman at Oxford
University whose mtDNA profile is used as a comparison standard for all other
samples. By chance it appears that she had the most common pattern of markers
(nucleotide basesA,C,G or T) in the region then measured - Hyper Variable Region 1
(HVR1) of the "D loop" area of the mitochondria. Recall that there are about 1000
mitochondria per cell, each functioning as a mini powerhouse (oxidative
phosphorylation) to provide energy to the cell. To complicate matters, it is frequently
found that some of the "mutations" (base like A / Adenine substitutions) away from the
CRS (on the 16,569 bases) occur in different haplogoups (e.g., Helena and Ursula).
Some mutations in this category (e.g., 16519) are "hot spots" and mutate so frequently
that they have little diagnostic power. With respect to haplogroup H, there is now a
sub-clade test available from FTDNA (www.familytreedna.com) to divide "H" into
meaningful subgroupings with a greater chance of finding geographic structure (e.g.,
that a motif or pattern of mutations is found most frequently in for example Ireland and
Iceland). These tests assess a different region of the mitochondrial DNA molecule (the
coding region). Some participants who are "H" have elected to have this specialized
testing - the results will be included above as they become available.

While HVR1 testing will allow the determination of "deep" (anthropological) ancestry
(e.g., those belonging the haplogroup K all trace their ancestry to a woman who lived on
the southern slopes of the Alps 15,000 years ago); a better chance to locate those who
are closer genetic cousins comes from assessing Hyper Variable Region 2. Again, if a
participant has opted for this type of testing the results will be inlcuded above and in the
accompanying summary chart.

See elsewhere on this site for a description of the databases noted above.

Scientific Research Articles that Address the Matter of Sub-Clades of Haplogroup H

The following papers should be consulted for further and more in depth information on
H:

1) Achill et al., "The Molecular Dissection of mtDNA Haplogroup H Confirms That
the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene
Pool", Am. J. Hum. Genet., Vol. 75, 2004. Available online, click here to download and
print.

2) Loogvali et al., "Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA
Haplogroup H in Eurasia", Mol. Biol. and Evol., 2004. When available online you can
click here to download.

Name: ISABELLA HALCROW BORN 1764 Cunningsburgh (kit #35793).
Motif: 16182C, 16183C, 16189C, 16356C, 16519C / 263G, 315.1C, 522-, 523-
Subclade: H1b.
Matches: In OA Database no matches. One HVR1 match (does not match HVR2) but
the match is an example of convergence since the person's haplogroup is U4. In the
mtDNA Concordance Database there are two exact HVR1 matches from Switzerland
but there is no way to tell if these are H or U haplotypes. No matches in world-wide
McAulay Database. In the Shetland Goodacre database of 503 haplotypes there is one
exact match - but no HVR2 data to discriminate between H and U. However, it is my
guess that this would be H.

Name: MARGARET JOHNSON born about 1772 and married Tirval TAIT, residing in East
Burrafirth, Aithsting (kit #33396)
Motif: 16304C / 263G, 309.1C, 309.2C, 315.1C, 456T.
Subclade: Possibly H5a1.
Matches: See Elizabeth Hoseason above. There is one HVR1 & HVR2 match but the
person is of "unknown origin".