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Italian DNA – Haplogroups

Having received great feedback on my post Italian DNA — Where Do We Come From? I thought I would go a little deeper into Haplogroups. Very simple put, a Haplogroup is a marker of sorts that denotes a certain mutation at a certain time in history. This marker allows genealogists to more or less pinpoint a migration path. Males inherit this marker from both parents, while females only their mother.

Knowing your haplogroup allows you to know what route your ancestors took from Africa to various places throughout history. Most companies, like Living DNA, will give you your haplogroup and an explanation and history. Most Italian males come from Haplogroup R1b. Most Females come from Haplogroup H

My Maternal Haplogroup - Mom is from Bari

Haplogroup U4 is found at a frequency ranging from 2% to 6% in most regions of Europe. Its highest frequency is observed among the Chuvash (16.5%), Bashkirs (15%) and Tatars (7%) of the Volga-Ural region of Russia, followed by Latvia (8.5%), Georgia (8.5%), Serbia (7%), and southern Daghestan (6.5%). Generally speaking, U4 is more common in Baltic and Slavic countries and around the Caucasus than anywhere else. Within Europe U4 is rarest in fringe regions such as Ireland (1.5%), Portugal (1.5%), north-west Spain (0.5%, except Cantabria which has 3%), Finland (1%), and especially among the Welsh, Sardinians and Saami, where it is completely absent. U4 is not found in countries or regions that lack the paternal lineage R1a(Balto-Slavic and Indo-Iranian branches of the Indo-European speakers), with which it seems to be intimately linked.

Outside Europe and the Caucasus, U4 is found especially in Iran (3%) and throughout Central Asia, particularly in Kyrgyzstan (3%), Turkmenistan (3%), Uzbekistan (2.5%) and Kazakhstan (2%), but also in parts of Siberia, notably in the Altai Republic (5%) and among the speakers of the Khanty and Mansi languages (12%), east of the Ural mountains. U4 is also found at high frequencies in some ethnic groups in Pakistan and Afghanistan, including among the Balochi (2.5%), Hunza Burusho (4.5%), Hazaras (8%), Parsi (13.5%) and especially among the Kalash (34% according to Quintana-Murci et al. 2004), although these frequencies have to been taken cautiously as they are based on very small sample sizes.

Haplogroup U4 rarely exceeds 2% of the population of the Middle East and is completely absent from the Druzes of Syria, Lebanon and Palestine. U4 is only found at trace frequencies in North Africa.

My Paternal Haplogroup - Dad is from Naples

Nowadays haplogroup G is found all the way from Western Europe and Northwest Africa to Central Asia, India and East Africa, although everywhere at low frequencies (generally between 1 and 10% of the population). The only exceptions are the Caucasus region, central and southern Italy and Sardinia, where frequencies typically range from 15% to 30% of male lineages.

The overwhelming majority of Europeans belong to the G2asubclade, and most northern and western Europeans fall more specifically within G2a-L140(or to a lower extend G2a-M406). Almost all G2b(L72+, formerly G2c) found in Europe are Ashkenazi Jews. G2b is found from the Middle East to Pakistan, and is almost certainly an offshoot of Neolithic farmers from western Iran, where G2b was identified in a 9,250 year-old sample by Broushaki et al. (2016).

Haplogroup G1is found predominantly in Iran, but is also found in the Levant, among Ashkenazi Jews, and in Central Asia (notably in Kazakhstan).

G2a makes up 5 to 10% of the population of Mediterranean Europe, but is relatively rare in northern Europe. The only regions where haplogroup G2 exceeds 10% of the population in Europe are in Cantabria in northern Spain, in northern Portugal, in central and southern Italy (especially in the Apennines), in Sardinia, in northern Greece (Thessaly), in Crete, and among the Gagauzes of Moldova – all mountainous and relatively isolated regions. Other regions with frequencies approaching the 10% include Asturias in northern Spain, Auvergne in central France, Switzerland, Sicily, the Aegean Islands, and Cyprus.

My Mother-in-laws Haplogroup she is from Sciaccia Sicily

Haplogroup U1 is a rare lineage very homogeneously spread across most of Central Asia, Europe, the Middle East and North Africa, with a frequency typically ranging from 0.5% to 2%. Only a few isolated ethnic groups, mostly in the Volga-Ural and North Caucasus regions, have frequencies above 3%. This includes the Uralic-speaking Udmurts (10%) and Mordvins (7%), as well as the Karachay-Balkars (4.5%), Nogays (3.8%), North Ossetians (3.6%), Adyghe-Kabardin (3.6%) and Dargins (3.6%) in the North Caucasus, and the Latvians (3.5%) in the East Baltic.

The only region where U2 is constantly found in higher frequencies is South Asia, where it is found found in roughly 6.5% of Bangladeshi people, 12% of Sri Lankans, and at an average frequency of 5.5% of in India, especially among Indo-Euopean speakers (7.5%) and with local peaks in northern India exceeding 20% (source: Mestpalu et al. 2004). However, South Asian subclades of U2, namely U2a, U2b and U2c, differ from the Central Asian U2d and European U2e.

Only a few ethnic groups in Europe appear to completely lack haplogroup U2, although this could be due to sampling bias. So far, U2 has not been found among Ashkenazi Jews, Cypriots, Sardinians, Welsh, Icelandic, Saami, Lithuanians, Avars and Chuvash people.

For more on the Genetic History of Italians you can visit Eupedia. Macerio Hay May 2017.

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