The T4336C Variant Is a Marker of Mitochondrial Subhaplogroup H1, a Common Component of the Russian and German Gene Pools |
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Authors: | Malyarchuk B A Derenko M V |
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Institution: | (1) Institute of Biological Problems of the North, Russian Academy of Sciences, Magadan, 685000, Russia |
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Abstract: | Analysis of mitochondrial DNA (mtDNA) restriction polymorphism carried out in a sample of Russians from Magadan (n= 150) showed that the frequency of the +4332AvaII variant (a T–C transition at nucleotide position 4336) in this population was 4.7%. All +4332AvaII types of mtDNA belonged to the mitochondrial group H. They were characterized by a back of the AluI restriction endonuclease site at position 7025. According to hypervariable segment 1 sequencing data, they contained the 16304C variant, and thus belong to the subgroup H1. Thus, the +4332AvaII (T4336C) variant is a marker of the mitochondrial subgroup H1, chiefly occurring in German-speaking populations. Utilization of the H1-mtDNA markers for the investigation of the genetic history and the origin of Slavs is discussed. |
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