Abstracts

Human Genome Diversity

Autosomal recessive non-syndromic deafness is the most common cause of hearing loss and is highly heterogeneous genetically. Mutations in connexin 26 (GJB2) gene have been recently shown to be one of the most often hereditary defect in human with the approximate frequency 20% in various populations. This point mutation is responsible for most of this autosomal recessive hearing loss, DFNB1. However, mutation 35delG in GJB2 is sufficiently frequent in some population, for example in Caucasoid. Approximately, 3% of people in Western Europe are 35delG heterozygotes (1). We studied patients with hereditary deafness, gomozygous alleles were detected in 46,1% cases, compaund geterozygous alleles were detected in 15% cases. This results served as the base for analising frequency mutation 35delG carriers in Volga-Ural region populations, belonging to Turkic brunch of Altai language family according to linguistic classification (Bashkirs (n=208), tatars (n=85), Chuvashs (n=42), and Finno-Ugric brunch the Uralic language family (Mari (n=49), Mordovians (n=70), Udmurts (n=61), Komi (n=76)). The most important fact is 35delG geterozygous allele is definitely present in Mordovian population (2,85%), Udmurts (1,6%), Mari (1,02%), Tatars (0,5%). From our point of view 35delG mutation in Finno-Ugric populations of Volga-Ural region was spreading from West to East. This fact is supported by the lack of mutation in Komi population, and also by high rate of this mutation in Estonia, which population belongs to Finno-Ugric group (1).

The data received as a result of this investigation provide the tool for molecular diagnosis, mutation carriers detection and prenatal diagnosis of autosomal recessive non-syndromic deafness.

Literature:
1. Gasparini P., Rabionet R., Barbujani G., Melchionda S., Petersen M., Brondum-Nielsen K., Metspalu A., Oitmaa E., Pisano M., Fortina P., Zelante L., Estivill X. (2000) High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet. 8(1): 19-23.

Note. Abstracts are published in author's edition

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