Abstract
Summarized genetic epidemiological characteristics of nonsyndromic sensorineural deafness in six raions of Chuvash Republic (Cheboksary, Kanash, Morgaushi, Tsivil'sk, Mariinski Posad, and Alatyr') are presented. A total of 264 419 individuals were examined. Forty-five families (60 affected individuals) with autosomal recessive (AR) and 8 families (18 affected individuals) with autosomal dominant (AD) nonsyndromic sensorineural deafness (NSSD) were identified. The load of AD and AR NSSD in the raions examined was estimated. A correlation between the distribution of AR NSSD and genetic drift was demonstrated. Furthermore, the load of AR NSSD was substantially higher in the regions with higher differentiation level. The Spearman's correlation coefficient value was 0.87. Typing of the 35delG mutation in the gene for connexion 26 was carried out in 34 patients from 26 families with AR NSSD. Comparative estimates of the NSSD prevalence in a number of Russian populations were performed.
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Zinchenko, R.A., Zinchenko, S.P., Galkina, V.A. et al. Prevalence and Molecular Genetic Typing of Nonsyndromic Sensorineural Deafness in Chuvash Republic. Russian Journal of Genetics 39, 1076–1084 (2003). https://doi.org/10.1023/A:1025739521156
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DOI: https://doi.org/10.1023/A:1025739521156