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

Plenary session

In North Asia, which recently was considered as blank area on the World genetic map, a wide research of genomic polymorphism in populations belonging to most of ethno-linguistic groups was performed during last 25 years. Tomsk geneticists investigated the genetic diversity in more than 20 ethnic groups of Siberia using a variety of molecular genetic systems including SNPs, Alu repeats, microsatellites, Y-chromosomal haplotypes and mitochondrial genome. Obtained data contributed to the description of gene pool of the region and allowed to analyze the genetic relationships between populations, to asses the role of population dynamics factors in formation of gene pool structure and diversity.

Results of comparative study of Mendelian diseases’ burden among Slavic population of Western Siberia, native inhabitants of Tuva, Altay, Yakutia were summarized. The share of autosomal-dominant, autosomal-recessive and X-linked diseases was similar, but differences were seen between urban and rural populations. On the background of relatively uniform spectrum of Mendelian diseases, nidi for several forms of pathology were revealed: spinocerebellar ataxia type 1, miotonic dystrophy and oculopharyngeal muscular dystrophy in Yakutia; microtia with meatal atresia and conductive deafness in Tuva.

The association of 45 allelic variants of 30 genes with cardiovascular (ischemic heart disease, arterial hypertension, insult), immune (asthma, obstructive lung disease, insulin-dependent diabetes), infectious (tuberculosis, tick-borne encephalitis, viral hepatitis) diseases was investigated. Among genes under study there were genes of angiotensin-renin system (ACE, AGT); genes determining myocardium function (GATA4, GNB3, MYBPC3), thrombophilia (FV, FII), nitric oxide metabolism (NOS1, NOS3), xenobiothics metabolism (GSTT1, GSTP1, CYP2C19, CYP2E1), immune response (SLC11A1, TNFA, IL1B, IL4, IL5, IL8, IL9, IL12B, IL1RA, IL4RA, IL5RA) and other genes. Estimations of heterozygosity (Ht), gene differentiation (Gst) and linkage disequilibrium in native and migrant populations, in patients and controls were obtained. Hypothesis of syntropic genes, presenting the “core” of susceptibility genes to combinations of certain diseases in individual and his nearest relatives was proposed.

It is supposed that success in revealing of association of genetic diversity with human pathology might be connected with HapMap international program, tagging SNP technology, expression genomics and bioinformatics. But it is important to note that genomic technologies (genotyping) are developed much faster and productively than phenomic approaches (phenotyping). It is natural and offers an objective difficulty, noted by Serebrovsky (1939) and described by him as “unity of unlimited number of traits and limited number of genes”.

Note. Abstracts are published in author's edition

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