| Autor: |
Dzhemileva LU; Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Bashkortostan, Russian Federation. dzhemilev@anrb.ru, Barashkov NA, Posukh OL, Khusainova RI, Akhmetova VL, Kutuev IA, Gilyazova IR, Tadinova VN, Fedorova SA, Khidiyatova IM, Lobov SL, Khusnutdinova EK |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of human genetics [J Hum Genet] 2010 Nov; Vol. 55 (11), pp. 749-54. Date of Electronic Publication: 2010 Aug 26. |
| DOI: |
10.1038/jhg.2010.101 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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