Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Bashkortostan, Russian Federation.
J Hum Genet. 2010 Nov;55(11):749-54. doi: 10.1038/jhg.2010.101. Epub 2010 Aug 26.
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.
听力障碍是最常见的感觉神经性功能障碍之一，先天性极重度耳聋的发病率约为每 1000 名新生儿中有 1 名。GJB2 基因突变是遗传性听力损失的最大原因。一些 GJB2 突变的频谱和流行率已知取决于人群的种族起源。本研究提供了欧亚大陆 18 个不同人群的 2308 名健康个体中主要 GJB2 突变 c.35delG、c.167delT 和 c.235delC 的携带者频率数据：俄罗斯人、巴什基尔人、鞑靼人、楚瓦什人、乌德穆尔特人、科米-彼尔姆人、莫尔多瓦人（俄罗斯伏尔加-乌拉尔地区）；白俄罗斯人和乌克兰人（东欧）；阿布哈兹人、阿瓦尔人、切尔克斯人和印古什人（高加索地区）；哈萨克人、维吾尔人和乌兹别克人（中亚）；雅库特人和阿尔泰人（西伯利亚）。在所研究的种族群体中，c.35delG 和 c.235delC 突变的流行率数据可用于研究这些突变在欧亚大陆的起源和流行中的预期创始效应，进而研究世界各地的人群。
