Journal
JOURNAL OF HUMAN GENETICS
Volume 55, Issue 11, Pages 749-754Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2010.101
Keywords
c.167delT; c.235delC; congenital deafness; connexin 26; GJB2; mutations c.35delG; populations of Eurasia
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Funding
- Russian Foundation for Humanities [Ural 08-06-84602a/Y, 07-06-00765a]
- Siberian Branch of the Russian Academy of Science (Novosibirsk)
- Federal Program [02.740.11.0701]
- Russian Foundation for Basic Research [09-04-01123-a, MK-2575.2008.04]
- [P325]
- [P601]
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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. Journal of Human Genetics 92010) 55, 749-754; doi:10.1038/jhg.2010.101; published online 26 August 2010
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