新疆哈萨克族非综合征型聋GJB2基因突变的研究分析

目的：研究新疆哈萨克族非综合征型聋患者GJB2基因突变的情况。方法：调查对象为来自新疆地区的193例哈萨克族患者，采用直接测序法对非综合征型聋患者97例和健康对照96例进行GJB2基因突变的检测。结果：在编码区耳聋组共发现8种碱基改变：其中35delG纯和12例，79G〉A纯合5例，79G〉A杂合8例，79G〉A与608T〉C复合杂合1例，79G〉A与341A〉G复合杂合5例，235delC杂合4例，341A〉G杂合2例，439T〉G杂合1例，457G〉A杂合1例，521G〉A纯合2例。对照组发现4种已明确的常见多态性碱基改变。结论：本研究提示新疆哈萨克族非综合征型聋患者GJB2基因突变具有种族和地域性特点，该地区哈萨克族耳聋人群中GJB2有较高携带率，在本研究中35 delG为其常见突变方式。

Analysis on GJB2 gene mutations with nonsyndromic hearing impairment in Kazak patients of Xinjiang

Objective：To study mutations in the GJB2 gene in Kazak patients with nonsyndromic hearing impairment from Xinjiang. Method：One hundred and ninety-three cases of Kazak from the Xinjiang region, including 97 cases of hearing loss and 96 cases of normal people, were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing. Result：Eight kinds of mutation were found in the encoding region of hearing impairment group：12 cases of 35 delG homozygous,5 cases of 79G〉A homozygous,8 cases of 79G〉A heterozygous, 1 case of 79G〉A heterozygous and 608T〉C heterozygous, 5 cases of 7907 A heterozygous and 341 A〉 G heterozygous,4 cases of 235 delC heterozygous,2 cases of 341A〉G heterozygous,1 case of 439T〉G heterozygous,1 cases of 457G〉A heterozygous, 2 cases of 521G〉 A homozygous. Four kinds of mutations found in the normal group were confirmed as common polymorphie mutation. Conclusion： The study suggests that the GJB2 gene mutation of the Kazak deaf population in Xinjiang has ethnic and regional characteristics. There is a rather high carrier frequency of GJB2 mutation of Kazak patients in Xinjiang. In this study the 35 delG mutation is a common mutation of Kazak patients.