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Haplogroup G-FGC7535, also known as Haplogroup G2a1 (and formerly G-L293), is a
Y-chromosome The Y chromosome is one of two sex chromosomes (allosomes) in therian mammals, including humans, and many other animals. The other is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence or abse ...
haplogroup A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup (haploid from the el, ἁπλοῦς, ''haploûs'', "onefold, simple" and en, group) is a group of similar haplotypes that share ...
. It is an immediate descendant of G2a (G-P15), which is a primary branch of haplogroup G2 (P287). G2a1 has an extremely low frequency in almost all populations except parts of the
Caucasus Mountains The Caucasus Mountains, : pronounced * hy, Կովկասյան լեռներ, : pronounced * az, Qafqaz dağları, pronounced * rus, Кавка́зские го́ры, Kavkázskiye góry, kɐfˈkasːkʲɪje ˈɡorɨ * tr, Kafkas Dağla ...
. In 2017, the SNP L293 was replaced by FGC7535, SK1106 and Z6552 as the defining SNPs of G2a1, due to the technical difficulty in testing for L293.


Genetic features of haplogroup G2a1

Almost all G2a1 persons have a value of 10 at
short tandem repeat A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome ...
(STR) marker DYS392. The major G2a1 subgroup typically has higher values for DYS385b, such as 16, 17 or 18, than seen in most G persons. Almost all G2a1a persons have a value of 15 or more at DYS385a, a finding which can be helpful in distinguishing G2a1a persons from non-G persons with similar marker values. In addition, the G2a1a persons tested were found to have a value of 9 at marker DYS505. This is several values below what is found in G subgroups, and is potentially the basis of additional subgrouping. L293 which defines G2a1 is a SNP first identified at
Family Tree DNA FamilyTreeDNA is a division of Gene by Gene, a commercial genetic testing company based in Houston, Texas. FamilyTreeDNA offers analysis of autosomal DNA, YDNA, Y-DNA, and mitochondrial DNA to individuals for genealogical purpose. With a database ...
in 2011, and in 2012 was determined to encompass P16 positive persons. L293 is found at chromosome position 10595022 and represents a mutation from G to C. The forward primer is , and the reverse primer is . Under usual circumstances subgroup G2a1a persons would also have the distinctive mutation at SNP P16 that characterizes G2a1a. The reliability of P16 in identifying everyone who should be P16+ has been questioned. Because there are two strands involved, P16 results can be reported as P16.1 and P16.2, and persons may have varying results for components of the SNP. The P designation in P16 indicates it was identified at the
University of Arizona The University of Arizona (Arizona, U of A, UArizona, or UA) is a public land-grant research university in Tucson, Arizona. Founded in 1885 by the 13th Arizona Territorial Legislature, it was the first university in the Arizona Territory. T ...
, and P16's existence was first reported in 2000. These are the specifications listed for P16: located on the Y chromosome at 19434578; 19128376.....forward primer is .....reverse primer is ...the mutation is a change from A to T.


Dating of G2a1 origin

The only published study to date P16 (G2a1a) argues it is about 9,600 years old.


G2a1 subgroups


G2a1a (P16) and G2a1a1 (P18)

The presence of the SNP P16 mutation characterizes G2a1's only SNP subgroup, G2a1a. But it is difficult to distinguish P16 from its own P18 subgroup. The reliability of P16 in identifying everyone in its G2a1a category has been questioned. As to P18, because individual strands are examined, P18 can be classified as P18.1, P18.2 and P18.3, and persons may have varying results for three components. The P designation indicates it was identified at the
University of Arizona The University of Arizona (Arizona, U of A, UArizona, or UA) is a public land-grant research university in Tucson, Arizona. Founded in 1885 by the 13th Arizona Territorial Legislature, it was the first university in the Arizona Territory. T ...
, and its existence was first reported in 2002. The technical specifications for P18 are that it is: located on the Y chromosome at 25751219; 25029753; 23396005....forward primer is ....reverse primer is .....the mutation is a change from C to T.


Other G2a1a genetic clusters

Due to the unreliability of the SNP testing for this haplogroup, it can be difficult to validate whether identificable clusters of men belong to G2a1a or instead to G2a1a1. The most common cluster based on STR marker values of G2a1a men who report ancestry in the Caucasus Mountains region has the value of 9 at STR marker DYS391 and 19,21 at marker YCA. Significant other smaller G2a1a Caucasus clusters with 10 or 11 at DYS391 also exist. The
Ashkenazi Ashkenazi Jews ( ; he, יְהוּדֵי אַשְׁכְּנַז, translit=Yehudei Ashkenaz, ; yi, אַשכּנזישע ייִדן, Ashkenazishe Yidn), also known as Ashkenazic Jews or ''Ashkenazim'',, Ashkenazi Hebrew pronunciation: , singu ...
Jewish G2a1a men with northeastern European origins almost all have YCA values of 21,21 and a DYS19 value of 16. More variation in values is seen in the Caucasus samples than the Ashkenazi samples, suggesting an older common ancestor in the Caucasus than among the Jews. Other G2a1a men reporting eastern European ancestry form a cluster with YCA values of 19,21 without the other distinctive values seen in the other two clusters. About half of the available G2a1a/G2a1a1 samples do not reliably belong to any of these three clusters. In addition, the STR markers mentioned are prone to further mutations and are not as reliable as SNPs in identifying all the persons who share a common male ancestor. Finally, there are lesser numbers of G2a1 men who are negative for P16. It is unclear whether their ancestors may have ever had the P16 mutation. Many of these men have a very unusual 13,21 value for marker YCA and are predominantly Hispanic.


Geographic distribution

G2a1a and its one subgroup represent the majority of haplogroup G samples in some parts of the
Caucasus Mountains The Caucasus Mountains, : pronounced * hy, Կովկասյան լեռներ, : pronounced * az, Qafqaz dağları, pronounced * rus, Кавка́зские го́ры, Kavkázskiye góry, kɐfˈkasːkʲɪje ˈɡorɨ * tr, Kafkas Dağla ...
area. G2a1a is found only in tiny numbers elsewhere. A recent article by Balanovsky et al. provided the first detailed testing of P16 and P18 in this region. Almost all P16 samples also had the P18 mutation. The highest percentage of P18 was found among
Ossetians The Ossetians or Ossetes (, ; os, ир, ирæттæ / дигорӕ, дигорӕнттӕ, translit= ir, irættæ / digoræ, digorænttæ, label=Ossetic) are an Iranian ethnic group who are indigenous to Ossetia, a region situated across the no ...
of Russia's
Republic of North Ossetia–Alania A republic () is a "state in which power rests with the people or their representatives; specifically a state without a monarchy" and also a "government, or system of government, of such a state." Previously, especially in the 17th and 18th c ...
, representing 32% of all samples there. Among
Abkhazians Abkhazians (russian: Абхазы), or Abkhazs ( ab, Аԥсуаа, Aṕswaа, ), are a Northwest Caucasian languages, Northwest Caucasian ethnic group, mainly living in Abkhazia, a disputed region on the northeastern coast of the Black Sea. A l ...
of
Abkhazia Abkhazia, ka, აფხაზეთი, tr, , xmf, აბჟუა, abzhua, or ( or ), officially the Republic of Abkhazia, is a partially recognised state in the South Caucasus, recognised by most countries as part of Georgia, which vi ...
, P18 was 16% of total samples, and it was 8% of
Circassians The Circassians (also referred to as Cherkess or Adyghe; Adyghe and Kabardian: Адыгэхэр, romanized: ''Adıgəxər'') are an indigenous Northwest Caucasian ethnic group and nation native to the historical country-region of Circassia in ...
(Adyghe) in Russia's Republic of Karachay–Cherkess. Elsewhere in the Caucasus, P16 and P18 were negligible or represented a small percentage. The southeastern Caucasus area was not sampled. There are isolated samples of G2a1a men with reported ancestry in
Georgia Georgia most commonly refers to: * Georgia (country), a country in the Caucasus region of Eurasia * Georgia (U.S. state), a state in the Southeast United States Georgia may also refer to: Places Historical states and entities * Related to the ...
,
Turkey Turkey ( tr, Türkiye ), officially the Republic of Türkiye ( tr, Türkiye Cumhuriyeti, links=no ), is a list of transcontinental countries, transcontinental country located mainly on the Anatolia, Anatolian Peninsula in Western Asia, with ...
,
Bulgaria Bulgaria (; bg, България, Bǎlgariya), officially the Republic of Bulgaria,, ) is a country in Southeast Europe. It is situated on the eastern flank of the Balkans, and is bordered by Romania to the north, Serbia and North Macedon ...
, western
Russia Russia (, , ), or the Russian Federation, is a List of transcontinental countries, transcontinental country spanning Eastern Europe and North Asia, Northern Asia. It is the List of countries and dependencies by area, largest country in the ...
,
Libya Libya (; ar, ليبيا, Lībiyā), officially the State of Libya ( ar, دولة ليبيا, Dawlat Lībiyā), is a country in the Maghreb region in North Africa. It is bordered by the Mediterranean Sea to the north, Egypt to Egypt–Libya bo ...
, and
England England is a country that is part of the United Kingdom. It shares land borders with Wales to its west and Scotland to its north. The Irish Sea lies northwest and the Celtic Sea to the southwest. It is separated from continental Europe b ...
with similarities to those of a North Ossetian cluster based on STR marker values. The
Svans , native_name = , native_name_lang = , image = File:Kartvelian languages.svg , caption = Distribution of the Svan language in relation to other Kartvelian (South Caucasian) languages. , population = –80,00 ...
and South Ossetians within Georgia have significant G2a1a presence though no one has yet quantified the percentage. Likewise closely related to a Jewish cluster based on STR marker values is an anonymous sample in the SMGF database from Kashgar,
China China, officially the People's Republic of China (PRC), is a country in East Asia. It is the world's most populous country, with a population exceeding 1.4 billion, slightly ahead of India. China spans the equivalent of five time zones and ...
, as well as isolated samples from
Lebanon Lebanon ( , ar, لُبْنَان, translit=lubnān, ), officially the Republic of Lebanon () or the Lebanese Republic, is a country in Western Asia. It is located between Syria to the north and east and Israel to the south, while Cyprus li ...
,
Cyprus Cyprus ; tr, Kıbrıs (), officially the Republic of Cyprus,, , lit: Republic of Cyprus is an island country located south of the Anatolian Peninsula in the eastern Mediterranean Sea. Its continental position is disputed; while it is geo ...
,
Armenia Armenia (), , group=pron officially the Republic of Armenia,, is a landlocked country in the Armenian Highlands of Western Asia.The UNbr>classification of world regions places Armenia in Western Asia; the CIA World Factbook , , and ''Ox ...
and the Austrian
Tyrol Tyrol (; historically the Tyrole; de-AT, Tirol ; it, Tirolo) is a historical region in the Alps - in Northern Italy and western Austria. The area was historically the core of the County of Tyrol, part of the Holy Roman Empire, Austrian Emp ...
. The mostly eastern European YCA=19,21 subgroup includes an anonymous sample in the SMGF database from
Kyrgyzstan Kyrgyzstan,, pronounced or the Kyrgyz Republic, is a landlocked country in Central Asia. Kyrgyzstan is bordered by Kazakhstan to the north, Uzbekistan to the west, Tajikistan to the south, and the People's Republic of China to the east. ...
, and another sample from among the
Svans , native_name = , native_name_lang = , image = File:Kartvelian languages.svg , caption = Distribution of the Svan language in relation to other Kartvelian (South Caucasian) languages. , population = –80,00 ...
of Georgia exists. There are also isolated samples that do not belong to any cluster from the major countries of central, eastern and southern
Europe Europe is a large peninsula conventionally considered a continent in its own right because of its great physical size and the weight of its history and traditions. Europe is also considered a Continent#Subcontinents, subcontinent of Eurasia ...
, from
Morocco Morocco (),, ) officially the Kingdom of Morocco, is the westernmost country in the Maghreb region of North Africa. It overlooks the Mediterranean Sea to the north and the Atlantic Ocean to the west, and has land borders with Algeria to ...
, the northern
Middle East The Middle East ( ar, الشرق الأوسط, ISO 233: ) is a geopolitical region commonly encompassing Arabian Peninsula, Arabia (including the Arabian Peninsula and Bahrain), Anatolia, Asia Minor (Asian part of Turkey except Hatay Pro ...
, the Caucasus region and
Iran Iran, officially the Islamic Republic of Iran, and also called Persia, is a country located in Western Asia. It is bordered by Iraq and Turkey to the west, by Azerbaijan and Armenia to the northwest, by the Caspian Sea and Turkmeni ...
. The sample from Iran (Tehran) represents only 1 of the 444 Iranian samples of all types in the YHRD database. Possibly of significance—unlike some other G subgroups—G2a1 samples from southern Asia do not seem to exist. In contrast, among the
Romani Romani may refer to: Ethnicities * Romani people, an ethnic group of Northern Indian origin, living dispersed in Europe, the Americas and Asia ** Romani genocide, under Nazi rule * Romani language, any of several Indo-Aryan languages of the Roma ...
of
Hungary Hungary ( hu, Magyarország ) is a landlocked country in Central Europe. Spanning of the Carpathian Basin, it is bordered by Slovakia to the north, Ukraine to the northeast, Romania to the east and southeast, Serbia to the south, Croatia a ...
many of the available haplogroup G samples have STR marker features typical of G2a1a.


Famous members

Joseph Stalin Joseph Vissarionovich Stalin (born Ioseb Besarionis dze Jughashvili; – 5 March 1953) was a Georgian revolutionary and Soviet political leader who led the Soviet Union from 1924 until his death in 1953. He held power as General Secreta ...
, from genetic testing of his grandson (his son Vasily's son; Alexander Burdonsky) belongs to haplogroup G2a1a1. The STR marker value combinations for him are typical of those seen primarily in the Caucasus region.
Richard III of England Richard III (2 October 145222 August 1485) was King of England and Lord of Ireland from 26 June 1483 until his death in 1485. He was the last king of the House of York and the last of the Plantagenet dynasty. His defeat and death at the Battl ...
was confirmed just prior to his re-interment to be a member of haplogroup G2, despite the low frequency of this haplogroup in modern
Great Britain Great Britain is an island in the North Atlantic Ocean off the northwest coast of continental Europe. With an area of , it is the largest of the British Isles, the largest European island and the ninth-largest island in the world. It is ...
.


See also

*
Genetic Genealogy Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used b ...
*
Y-DNA haplogroups in populations of the Caucasus Various Y-DNA haplogroups have differing frequencies within each ethnolinguistic group in the Caucasus region. __TOC__ Table The table below lists the frequencies – identified by major studies – of various haplogroups amongst selected ethni ...
* Haplogroup G (Y-DNA) by country


References


External links


Haplogroup G Project Site


from ''
National Geographic ''National Geographic'' (formerly the ''National Geographic Magazine'', sometimes branded as NAT GEO) is a popular American monthly magazine published by National Geographic Partners. Known for its photojournalism, it is one of the most widely ...
''
Haplogroup G tutorial from Genebase


* ttp://www.ysearch.org/haplosearch_results.asp?haplo=G®ion=&submit=Search&uid= Y-Search Users with Haplogroup G {{DEFAULTSORT:Haplogroup G2a1 (Y-Dna) G2a1 Saltovo-Mayaki culture