International Union for Circumpolar Health Ministry of Public Health and Social Development of RF Russian Academy of Medical Sciences Siberian Branch of Russian Academy of Medical Sciences Siberian Branch of Russian Academy of Sciences Medical Polar Fund “Science” The Northern Forum

Abstracts

Genetics, demography, anthropology

A research study for patterns of human diseases inheritance is not possible without detailed picture of polymorphic loci prevalence. The frequencies of functional polymorphisms can vary depending on ethnic and population history. Meanwhile, multiethnic population of Siberia still remains insufficiently investigated in respect of candidate genes for wide spread diseases. Taking into account severe climatic conditions of the region, it is interesting to study genes for proteins which are involved in energy metabolism. These proteins are encoded by nuclear as well as mitochondrial genome. One of nuclear genes necessary for mitochondrial genome functioning is POLG1 gene which encodes for mitochondrial DNA polymerase gamma. In present-day mitochondrial diseases classification there is special division for clinical conditions caused by mutations in POLG1. At the same time, there are no data about functional significance of polymorphisms in this gene.

With the aim to study genetic diversity in the populations of Siberia, two SNP in POLG1 were genotyped: rs758130 (A/G) and rs2238296 (T/C), which lead to TaqI and MspI restriction site changes, respectively. 139 Altaians (Beshpeltir, Gorny Altay Republic), 196 Yakuts (Cheriktey, Republic Sakha-Yakutia), 417 Tuvinians (Kungurtug, Teely, Toora-Hem villages, Tuva Republic) and 133 Russians (Tomsk) were investigated. The polymorphisms were genotyped with restriction analysis of PCR products.

In all samples, distribution of genotypes for TaqI and MspI polymorphisms corresponded to Hardy-Weinberg equilibrium. Heterozygosity level for TaqI polymorphism varied from 0.464 in Yakuts up to 0.562 in Altaians. For MspI polymorphism, observed heterozygosity varied from 0.469 in Tuvinians up to 0.545 in Yakuts. Allele G of TaqI polymorphism was registered with frequency 39% in Altaians, 35% in Yakuts, 37% in Tuvinians and 47% in Russians. Allele C of MspI polymorphism was found with frequency 37% in Altaians, 35% in Yakuts, 39% in Tuvinians and 45% in Russians. Comparison of allele and genotype frequencies has shown higher frequencies of rare alleles in Russians, but the differences were significant only while comparing Russians and Yakuts. Analysis of the results together with data on these polymorphisms available at dbSNP (http://www.ncbi.nlm.nih.gov/SNP/) did not show considerable differences of allele frequencies within Mongoloids and Caucasoids. Thus, the results suggest possible mongoloid-caucasoid differentiation in prevalence of the polymorphisms in POLG1.

The study was supported by RFBR grants no. 04-04-48532 and 04-04-48792.

Note. Abstracts are published in author's edition

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Last update: 06-Jul-2012 (11:52:05)