RESUMEN
Hearing impairment is one of the most common disorders of sensorineural function and the incidence of profound prelingual deafness is about 1 per 1000 at birth. GJB2 gene mutations make the largest contribution to hereditary hearing impairment. The spectrum and prevalence of some GJB2 mutations are known to be dependent on the ethnic origin of the population. This study presents data on the carrier frequencies of major GJB2 mutations, c.35delG, c.167delT and c.235delC, among 2308 healthy persons from 18 various populations of Eurasia: Russians, Bashkirs, Tatars, Chuvashes, Udmurts, Komi-Permyaks and Mordvins (Volga-Ural region of Russia); Belarusians and Ukrainians (East Europe); Abkhazians, Avars, Cherkessians and Ingushes (Caucasus); Kazakhs, Uighurs and Uzbeks (Central Asia); and Yakuts and Altaians (Siberia). The data on c.35delG and c.235delC mutation prevalence in the studied ethnic groups can be used to investigate the prospective founder effect in the origin and prevalence of these mutations in Eurasia and consequently in populations around the world.
Asunto(s)
Pueblo Asiatico/genética , Conexinas/genética , Sordera/genética , Tamización de Portadores Genéticos/métodos , Mutación , Población Blanca/genética , Asia Central/etnología , Conexina 26 , Sordera/etnología , Europa Oriental/etnología , Frecuencia de los Genes , Genética de Población , Heterocigoto , Humanos , Polimorfismo Genético , Federación de Rusia/etnologíaRESUMEN
This work develops a reference STR database on the Volga-Ural population, Russia, comprised of 640 individuals that were sampled from eight ethnic groups (Finno-Ugric Mari, Mordva-Moksha, Mordva-Erzja, Komi-Permjak, and Udmurt, and Turkic-speaking Bashkir, Tatar-Mishary, and Chuvash) and typed with 10 autosomal STR markers: TH01, CSF1P0, FGA, vWA, D3S1358, TPOX, D16S539, D8S1179, D13S317, FES. The groups differentiate in allele frequencies, and therefore we computed theta-values between allele frequencies in each ethnic groups and those in the database as a measure of their differentiation. Nevertheless, the Volga-Ural ethnic groups form a relatively compact cluster that greatly deviate from the Romanic Moldovans and the Turkic Yakuts, taken for comparison, and are closer to the Slavic Russians, Belarusians, and Ukrainians, although significantly differ from those as well.