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mtDNA H Subclade SNP Test

Purpose of test: To provide individuals who are confirmed members of Haplogroup H with further resolution through Subclade analysis.

Availability: Open to both males and females who are confirmed members of Haplogroup H.

Technology used: mtDNA SNP Panel

Prerequisites: The HVR1 Test, HVR2 Test, and mtDNA SNP Backbone Test are prerequisites for the mtDNA H Subclade Test. Your membership in Haplogroup H must be confirmed before you can proceed with H Subclade testing. In order to take the mtDNA H Subclade Test, you must meet the following requirements:

Must be a confirmed member of Haplogroup H. Individuals who belong to a different Haplogroup must wait for a Subclade test for the Haplogroup that they belong to.
If your Haplogroup H designation has not been confirmed through backbone testing, click here to order the Haplogroup Backbone SNP panel first to confirm your membership in Haplogroup H before proceeding.

Price:

$89.00 USD

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1. About mtDNA H Subclade SNP Testing

What is Subclade testing?

The mtDNA Subclade SNP Test examines a special panel of markers in the Coding Region of the mtDNA which allows you to determine which “Subclade” you belong to once your Haplogroup has been determined.

All people living today can trace their maternal ancestry back to one of 26 core mtDNA Haplogroups. When examining the human mtDNA phylogenetic tree, Haplogroups are the main “trunks” of the tree and represent large family groups that arose during ancient times (tens of thousands of years ago). Over time, distinctive mutations appeared in each Haplogroup and are passed on to all future descendents along the maternal line. Descendents carrying the same set of mutations formed subgroups, dividing each Haplogroup into “Subclades”.

Once you discover which Haplogroup you belong to using the mtDNA Backbone Haplogroup SNP Test, you can further fine-tune your results by finding out which Subclade you belong to using a Subclade test which is specific for your confirmed Haplogroup.

The Subclades of Haplogroup H

Haplogroup H is one of the most dominant family groups in Europe, representing approximately 40% of the mtDNA gene pool in populations in various parts of Europe. A study of the mtDNA of individuals who belong to Haplogroup H reveals a very large number of independent sub-branches, giving rise to a large number of H Subclades which have several further sub-branches themselves.

Recent publications have been able to successfully sub-classify members of Haplogroup H into 16 different Subclades, H1 to H16, based on characteristic SNPs located in the coding region of the mtDNA.

The diagram below is a phylogenetic tree illustrating the various known Subclades of H. The diagram also shows where each of the 17 SNPs fall in the tree. Click here to download a detailed copy of the Haplogroup H Subclade phylogenetic tree.

About the H Subclade SNP Test Panel

In the mtDNA H Subclade SNP Test, we examine 17 specific SNP markers in the coding region of the mtDNA that are informative for mtDNA H Subclade determination when used together with the mtDNA HVR1 and HVR2 results.
These 17 SNP markers define up to 16 different Subclades of Haplogroup H (Subclades 1 to 16). The chart below lists the 17 SNP markers that are included in this test panel and the H Subclades that they define.

SNP Location	Mutations	H Subclades
1438	A > G	Excludes H2
2259	C > T	H13
3010	G > A	H1
3915	G > A	H6
3936	C > T	H12
3992	C > T	H4
4310	A > G	H9
4336	T > C	H5a
4769	A > G	Excludes H2a
4793	A > G	H7
6253	T > C	H15
6776	T > C	H3
8448	T > C	H11
10394	C > T	H16
11377	G > A	H14
13101	A > C	H8
14470	T > A	H10

2. About the H Subclades

Subclades H1 to H16 account for over 70% of individuals who belong to Haplogroup H. The remaining 30% of individuals who belong to Haplogroup H belong to yet unidentified Subclades of Haplogroup H and are designated as H*. As the studies progress, more Subclades of H will be identified and will provide further classification.

Due to the large size of Haplogroup H and its wide distribution, there has been much research recently on the Subclades of H, which surprisingly show a more restricted and distinctive regional geographic distribution.

The following table summarizes what is known today about the Subclades of Haplogroup H:

This table is based on a summary of current research published in peer reviewed journals and will be updated as more scientific data becomes available for the Subclades of H.

Subclade	Description
H1 (Western Europe and Slavic speaking East Europeans, H1a and H1b are found almost exclusively in Europe, with only traces found in Turks outside Europe)	Largest subclade (branch) of mtDNA Haplogroup H. Represents approximately 30% of people in Haplogroup H. 13% of the total European mtDNA pool belongs to this branch. Originated in Western Europe. Almost exclusively European. Approximately 13,000 years old. Highest frequency in Western Europe, having expanded after the LGM from the Franco-cantabrian refugium. Spread northwards fairly close to the Atlantic coastline into the British Isles. H1 is most frequent in the Iberian Peninsula Centered in Iberia and surrounding areas, covering about 46% of local Haplogroup H lineages. In the Near East, frequency of H1 does not exceed 6% of all Haplogroup H subclades Has a frequency peak among the maternal lineages of the Basques of Spain (27.8%). Very high frequencies in the rest of Iberia (17.7% to 24.3%), Morocco (19.2%) and Sardinia (17.9%) Decreasing in frequency toward the northeast and southeast. Overall gradient with peak centered at the most southwestern edge of Europe and declining frequencies towards both the northeast and southeast. The distribution of H1 provides further confirmation regarding the origins of Europeans, suggesting that the Franco-Cantabrian refuge area was the source of late-glacial expansion of hunter-gatherers that repopulated much of Central and Northern Europe from approximately 13,000 years ago. The H1b sub-branch is detected at the highest frequency in Eastern Europe (7% of haplogroup H), and North Central Europe (5% of H). It is also found in 5% of Haplogroup H individuals in Siberian Mansis. The H1f sub-branch is a rare subclade that is found in northern central Finns. Makes up to 25% of the Finish Haplogroup H genomes of Finnila, Lehtonen, and Majamaa and absent elsewhere in Europe.
H2 (Eastern Europe, Caucasus, Asia)	H2 is found in the highest frequency in Eastern Europe and the Caucasus. Most likely dispersed from Western Europe. H2a is found most frequently in Eastern Europe and at low frequency in Western Europe (6.5% in Eastern and 1.1% in Western European Haplogroup H genomes). Unlike its ancestor, H2, which did not spread to Asia, the spread of H2a extends to Central Asia and mimics the phylogeography of Y-chromosomal R1a. The H2a1 branch, which is defined by a transition at position 951 is found most frequently in Eastern Europe as well as Asia. Coalescence age falls to the period of postglacial recolonization of Europe. The mtDNA bearing the “St. Luke” motif 16235, 16291 (vernesi et al. 2001) belongs to subclade H2 and is most frequent in Germany and Scotland. The St. Luke motif is the mtDNA motif of “Luke the Evangelist”. Click here to download and print an original copy of the publication.
H3 (Western Europe)	H3 is the second most common subclade of H. Haplogroup H gave rise to subclade H3 in Western Europe. H3 is found more frequently in the Western Europe than in the Eastern Europe. Mainly localized in Western Europe (11.7%), having expanded after the LGM from the Franco-cantabrian refugium. H3 is extremely rare in Eastern Europe and virtually absent in Anatolia and the Near East. Resembles the phylogeography of the spread of Y-chromosomal Haplogroup R1b. Its highest frequency is in the Iberian Peninsula, 17% of haplogroup H, the highest detected so far. Spread northwards fairly close to the Atlantic coastline into the British Isles. Similar pattern to H1. 9000 to 11,000 years old. The distribution of H1 provides further confirmation regarding the origins of Europeans, suggesting that the Franco-Cantabrian refuge areas was the source of late-glacial expansion of hunter-gatherers that repopulated much of Central and Northern Europe from approximately 15,000 years ago. H3 represents a much smaller fraction of H than H1. High frequencies found among the Basques of Spain (13.9%), in Galicia (8.3%) and Sardinia (8.5%) (in the same areas where H1 is also most frequent).
H4	Infrequent/minor subclade of H. Found in low frequencies in Europe and the Near East and also present in the Caucasus. Entered Europe around the LGM and/or during later dispersal from the near East, such as the Neolithic. Further research will better resolve the geographical distribution pattern of this subclade.
H5	H5 is present at low levels throughout the Near East and may have evolved there, spreading later into Europe. 11,500 years old. Its ancestor was identified as a putative late-glacial founder type. Found in Iberia, central, eastern and southeast Europe and less frequent in northwest Europe. H5a is found in the highest frequency on the central European plain and dates to 7000 to 8000 years. Fairly evenly distributed at low levels across Europe, but is absent from the Caucasus and the Near East, suggesting an European origin for this branch. Distributed by late-glacial dispersals, may trace a distinct dispersal route into Central and Eastern Europe.
H6 (central Asia)	Very old branch of H, first arose approximately 40,000 years ago, likely diverged from H in Central Asia. Although H6 is likely one of the oldest subclades of Haplogroup H, it is one of the latest subclades to expand into Europe, likely migrated into Europe approximately 5000 years ago. Diverged to Asia very early. Coalescence age of H6 in Central Asians is very deep, 40,000 years. Asian branch of H6 is highly divergent and seems to among the oldest in Haplogroup H. Flow of maternal lineages south of the Caspian and the Black Sea in addition to well known long lasting migrations of pastoral nomads alongside the steppe belt that connects the Danube Basin, over the Pontic-Caspian, with Central Asia, Altay, and Manchuria. Most frequent among the identified subclades of Haplogroup H in Central Asia. Common in Eastern Europe and the Caucasus (may have dispersed from western Europe). The basal type of H6 is exclusively European and there is a single derived type that is common in Eastern Europe and the Caucasus. Not found in Near Eastern samples. The H6b branch is very rare in Europe. Found in Central Asian/Altaian Populations. Very distinctly divergent haplotypes. Reflects a long-time separation of Asian and European H6 mtDNA or an earlier expansion of H6 in the eastern part to its present range.
H7	Infrequent/minor subclade Found in Europe and the Near East and also present in the Caucasus. Entered Europe around the LGM and/or during later dispersal from the near East, such as the Neolithic. Further research will reveal the history and geographical distribution pattern.
H8	H8 is found mainly in Near East and Central Asia. Very rare in Europe. Flow of maternal lineages south of the Caspian and the Black Sea in addition to well known long lasting migrations of pastoral nomads alongside the steppe belt that connects the Danube Basin, over the Pontic-Caspian, with Central Asia, Altay, and Manchuria. Found in Central Asian/Altaian Populations. Very distinctly divergent haplotypes. Reflects a long-time separation of Asian and European H8 mtDNA or an earlier expansion of H8 in the eastern part to its present range.
H9	Infrequent/minor subclade of H. Further research will better resolve the geographical distribution pattern of this subclade.
H10	Infrequent/minor subclade of H. Further research will better resolve the geographical distribution pattern of this subclade.
H11	Infrequent/minor subclade of H. Further research will better resolve the geographical distribution pattern of this subclade.
H12	Infrequent/minor subclade of H. Further research will better resolve the geographical distribution pattern of this subclade.
H13	Infrequent/minor subclade Found in low frequencies in Europe and the Near East and also present in the Caucasus. Entered Europe around the LGM and/or during later dispersal from the near East, such as the Neolithic. Highest frequency in Daghestan and in Georgia. Present in the southern Caucasus and Near East populations
H14	Infrequent/minor subclade of H. Further research will better resolve the geographical distribution pattern of this subclade.
H15	Infrequent/minor subclade of H. Further research will better resolve the geographical distribution pattern of this subclade.
H16	Infrequent/minor subclade of H. Further research will better resolve the geographical distribution pattern of this subclade.

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