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Genetics & Human Microbiology Establishing relationships, similarities and differences within the human genome.

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Old Monday, November 28th, 2005
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Default Y-Chromosome Biallelic Haplogroups (guide)

A useful guide on the different Haplogroups:

Biallelic SNP markers are single base-pair mutations (polymorphisms) that occur at different Y-chromosome locations about once every 7000 years. SNP=Single Nucleotide Polymorphism. There are 153 known haplogroups. Haplotypes defined by the 25 STR markers are subgroups under the haplogroups.

Short Haplogroup Definitions:
  • Haplogroup B is one of the oldest Y-chromosome lineages in humans. Haplogroup B is found exclusively in Africa. This lineage was the first to disperse around Africa. There is current archaeological evidence supporting a major population expansion in Africa approximately 90-130 thousand years ago. It has been proposed that this event may have spread Haplogroup B throughout Africa. Haplogroup B appears at low frequency all around Africa, but is at its highest frequency in Pygmy populations.
  • Haplogroup C is found throughout mainland Asia, the south Pacific, and at low frequency in Native American populations. Haplogroup C originated in southern Asia and spread in all directions. This lineage colonized New Guinea, Australia, and north Asia, and currently is found with its highest diversity in populations of India.
  • Haplogroup C3 is believed to have originated in southeast or central Asia. This lineage then spread into northern Asia, and then into the Americas.
  • Haplogroup D2 most likely derived from the D lineage in Japan. It is completely restricted to Japan, and is a very diverse lineage within the aboriginal Japanese and in the Japanese population around Okinawa.
  • Haplogroup E3a is an Africa lineage. It is currently hypothesized that this haplogroup dispersed south from northern Africa within the last 3,000 years, by the Bantu agricultural expansion. E3a is also the most common lineage among African Americans.
  • Haplogroup E3b is believed to have evolved in the Middle East. It expanded into the Mediterranean during the Pleistocene Neolithic expansion. It is currently distributed around the Mediterranean, southern Europe, and in north and east Africa.
  • Haplogroup G may have originated in India or Pakistan, and has dispersed into central Asia, Europe, and the Middle East. The G2 branch of this lineage (containing the P15 mutation) is found most often in Europe and the Middle East.
  • Haplogroup H is nearly completely restricted to India, Sri Lanka, and Pakistan.
  • Haplogroups I, I1, and I1a are nearly completely restricted to northwestern Europe. These would most likely have been common within Viking populations. One lineage of this group extends down into central Europe.
  • Haplogroup I1b was derived within Viking/Scandinavian populations in northwest Europe and has since spread down into southern Europe where it is present at low frequencies.
  • Haplogroup J is found at highest frequencies in Middle Eastern and north African populations where it most likely evolved. This marker has been carried by Middle Eastern traders into Europe, central Asia, India, and Pakistan.
  • Haplogroup J2 originated in the northern portion of the Fertile Crescent where it later spread throughout central Asia, the Mediterranean, and south into India. As with other populations with Mediterranean ancestry this lineage is found within Jewish populations. The Cohen modal lineage is found in Haplogroup J2.
  • Haplogroup Q is the lineage that links Asia and the Americas. This lineage is found in North and Central Asian populations as well as native Americans. This lineage is believed to have originated in Central Asia and migrated through the Altai/Baikal region of northern Eurasia into the Americas.
  • Haplogroup Q3 is the only lineage strictly associated with native American populations. This haplogroup is defined by the presence of the M3 mutation (also known as SY103). This mutation occurred on the Q lineage 8-12 thousand years ago as the migration into the Americas was underway. There is some debate as to on which side of the Bering Strait this mutation occurred, but it definitely happened in the ancestors of the Native American peoples.
  • Haplogroup R1a is believed to have originated in the Eurasian Steppes north of the Black and Caspian Seas. This lineage is believed to have originated in a population of the Kurgan culture, known for the domestication of the horse (approximately 3000 B.C.E.). These people were also believed to be the first speakers of the Indo-European language group. This lineage is currently found in central and western Asia, India, and in Slavic populations of Eastern Europe.
  • Haplogroup R1b is the most common haplogroup in European populations. It is believed to have expanded throughout Europe as humans re-colonized after the last glacial maximum 10-12 thousand years ago. This lineage is also the haplogroup containing the Atlantic modal haplotype (HG1).

2005 Y-Chromosome Phylogenetic Tree:

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