FTDNA-hosted site is mtDNA Haplogroup H Project: H1

H1: An Introduction

Membership

Project membership contains a mixed group of results. There are those who have taken only a basic test placing them in Haplogroup H with HVR1 results. There are some who have extended their testing to HVR2. Many have taken the mtDNA Full Genome Sequence test that includes all of the control and coding regions.

FamilyTreeDNA
	Nucleotides	mtDNA	mtDNAPlus	mtDNA Full Sequence
Hypervariable Region 2	00001-00574		X	X
Coding Region	00575-16000			X
Hypervariable Region 1	16001-16569	X	X	X

All results considered in this section come from members who have taken ether the mtDNA Haplogroup H subclade test, mt-H, or the mtDNA Full Genome Sequence test, FGS, and are positive for the H1 mutation, G3010A.

Completeness	n
HVR1	362
HVR1&2	274
FGS

H1 in the H Tree

H {A2706A, C7028C}
- H*
- H1 {G3010A}
- H1a {A73G,A16162G}
  - H1a1 {T6365C}
  - H1a2 {A8271T}
- H1b {T16189C,A3796G,T16356C}
- H1c {T477C}
  - H1c1 {A9150G}
  - H1c2 {C12858T}
- H1d {456}
- H1f {T4452C,T7309C,A9066G,T16093C}

Major Papers

Finnila 2001
SNPs	Haplogroup	Notes	n	Percentage
A2706A,C7028C	H	Mutations in common with CRS	31	100%
various	H*	see bellow	13	42%
G3010A	H1	Mutation away from CRS	14	45%
A1438G,A4769G	H2	Mutation away from CRS	4	13%

Finnila collected 480 samples from Red Cross offices in several Finnish provinces. Of these 188 were Hs using the 7025AluI restriction site. 31 Hs were selected for an mtDNA full sequence. There were 14 H1s in this sample.

Herrnstadt 2002
SNPs	Haplogroup	Notes
A2706A,C7028C	H	Mutations in common with CRS
G3010A	H1
	H2
	H3

Achilli 2004
SNPs	Haplogroup	Notes
A2706A,C7028C	H	Mutations in common with CRS
G3010A	H1

FTDNA mt-H
SNPs	Haplogroup	Notes
A2706A,C7028C	H	Mutations in common with CRS
G3010A	H1
A16162G	H1a
T16189C,T16356C	H1b

Loogvali 2004
SNPs	Haplogroup	Notes
A2706A,C7028C	H	Mutations in common with CRS
G3010A	H1
	H
	H

Brandstatter 2006
SNPs	Haplogroup	Notes
A2706A,C7028C	H	Mutations in common with CRS
G3010A	H1
A73G,A16162G	H1a	A73G may predate A16162G
T6365C	H1a1
A8271T	H1a2
A3796G	H1b
T477C	H1c	'Transition T477C obviously defines a new subbranch of H1'
A9150G	H1c1
C12858T	H1c2
T4452C,T7309C,A9066G,T16093C	H1f	Not all cases have T16093C
T8473C	H1-8473
T8602C	H1-8602

Roostalu 2007
SNPs	Haplogroup	Notes
A2706A,C7028C	H	Mutations in common with CRS
G3010A	H1
A73G,A16162G	H1a
T6365C	H1a1
A8271T	H1a2	Transversion
T16189C,A3796G,T16356C	H1b
T477C	H1c
A9150G	H1c1
C12858T	H1c2
456	H1d
T4452C,T7309C,A9066G,T16093C	H1f

Geographic Distribution

All H1

Country	Count
Belarus	2
Belgium	2
Croatia	1
Czech Republic	4
Denmark	1
England	34
Finland	14
France	13
Germany	36
Greece	1
Hungary	2
Iceland	1
Ireland	18
Israel	1
Italy	5
Latvia	2
Lithuania	2
Moldova	1
Morocco	1
Netherlands	8
Northern Ireland	3
Norway	9
Poland	12
Portugal	5
Romania	1
Scotland	13
Spain	6
Sweden	6
Switzerland	2
United Kingdom	32
Unknown Origin	90
Wales	4

Full Sequence H1*

Country	Count
Belgium	1
Czech Republic	2
England	4
France	3
Germany	8
Iceland	1
Ireland	3
Italy	3
Latvia	1
Morocco	1
Netherlands	1
Northern Ireland	1
Norway	2
Scotland	4
Spain	1
Switzerland	1
United Kingdom	3
Wales	1
Unknown Origin	8
Total	49

Full Sequence H1a*

Country	Count
England	2
Norway	1
Spain	1
Sweden	1
Unknown Origin	2
Total	7

Full Sequence H1a1

Country	Count
Germany	3
Ireland	1
United Kingdom	1
Unknown Origin	4
Total	9

Full Sequence H1a2

Country	Count
Finland	2
Total	2

Full Sequence H1b

Country	Count
England	1
Finland	1
Norway	1
Unknown Origin	2
Total	5

Full Sequence H1c*

Country	Count
Germany	2
Poland	2
Sweden	1
United Kingdom	3
Unknown Origin	1
Total	9

FGS H1c1's

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FGS H1c2's

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Sources

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.
Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon JM, Roostalu U, Loogväli EL, Kivisild T, Bandelt HJ, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A
Am J Hum Genet75p910-8(2004 Nov)

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N
Nat Genet23p147(1999 Oct)

Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ
Int J Legal Med118p137-46(2004 Jun)

Dissection of mitochondrial superhaplogroup H using coding region SNPs.
Brandstätter A, Salas A, Niederstätter H, Gassner C, Carracedo A, Parson W
Electrophoresis27p2541-50(2006 Jul)

Phylogenetic network for European mtDNA.
Finnilä S, Lehtonen MS, Majamaa K
Am J Hum Genet68p1475-84(2001 Jun)

Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.
Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N
Am J Hum Genet70p1152-71(2002 May)

Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia.
Loogväli EL, Roostalu U, Malyarchuk BA, Derenko MV, Kivisild T, Metspalu E, Tambets K, Reidla M, Tolk HV, Parik J, Pennarun E, Laos S, Lunkina A, Golubenko M, Barac L, Pericic M, Balanovsky OP, Gusar V, Khusnutdinova EK, Stepanov V, Puzyrev V, Rudan P, Balanovska EV, Grechanina E, Richard C, Moisan JP, Chaventré A, Anagnou NP, Pappa KI, Michalodimitrakis EN, Claustres M, Gölge M, Mikerezi I, Usanga E, Villems R
Mol Biol Evol21p2012-21(2004 Nov)

Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective.
Roostalu U, Kutuev I, Loogväli EL, Metspalu E, Tambets K, Reidla M, Khusnutdinova EK, Usanga E, Kivisild T, Villems R
Mol Biol Evol24p436-48(2007 Feb)

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results/h1/helena.txt · Last modified: 06/22/2008 06:59 by goddess