Abstracts

Human Genome Diversity

Dopamine transporter gene (DAT) contains a variable number (3 - 11) of tandem repeats (VNTR) in 3'-untranslated region with monomer length 40 bp. Various allelic variants of this gene are associated with predispositions to asocial types of behavior. There are data on distribution of VNTR alleles frequencies of DAT gene in various regions of the world. However this information for different ethnic groups of Russia is limited to Europeoid population of Novosibirsk. Here, we estimated the frequencies of different structural VNTR variants of DAT gene among indigenous populations of the Urals, west and east Siberia, Central Asia, and the Far East of Russia. The total number of studied individuals was 859. They belong to 13 different ethnic groups, including Russians, Altaians, Kazakhs, Khantys, Mansis, Komis, Mordovians, Maris, Tuvinians, Nivkhs, Koriaks, Chuckchees, Nanaitsys. To analyze the VNTR polymorphism of DAT gene, polymerase chain reaction with flanking primers was used.

Alleles of size 318, 358, 398, 438, 478, 518 and 558 bp were observed, corresponding to presence of 6, 7, 8, 9, 10, 11 and 12 copies of repeats accordingly. Allele of size 558 bp, observed in one Russian individual and in two Tuvinians, was not described previously. The indigenous populations of Central Asia occupy an intermediate position between Western Siberian Finno-Ugrians and indigenous populations of East Siberia and Far East by distribution of VNTR alleles frequencies of DAT gene. The distributions of genotypes in Russians and Nanaitsys significantly differed from other ethnic groups in pair wise c2 - test. The heterozygosity of the DAT VNTR polymorphism in each population was calculated. The highest level of this index was observed in Nanaitsys and Russians (0.41 and 0.39 accordingly) and the lowest in Chuckchees (0.12).

The existence of interpopulation differences in the frequencies of VNTR alleles of DAT gene permitted the conclusion that this polymorphism can be used as an informative genetic marker for examination of the genetic relationship between North Asian populations.

Note. Abstracts are published in author's edition

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