新疆哈萨克族非综合征型聋GJB2基因突变的研究分析

发布时间：2018-05-11 23:15

本文选题：非综合征型耳聋 + GJB基因　；参考：《临床耳鼻咽喉头颈外科杂志》2014年10期

【摘要】：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,79GA纯合5例,79GA杂合8例,79GA与608TC复合杂合1例,79GA与341AG复合杂合5例,235delC杂合4例,341AG杂合2例,439TG杂合1例,457GA杂合1例,521GA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35delG为其常见突变方式。
[Abstract]:Objective: to study the mutation of GJB2 gene in Kazak patients with non-syndromic deafness in Xinjiang. Methods: a total of 193 Kazakh patients from Xinjiang were investigated. GJB2 gene mutations were detected by direct sequencing in 97 patients with non-syndromic deafness and 96 healthy controls. Results: a total of 8 kinds of base changes were found in the coding region deafness group: among them, 35delG was pure and 12 cases were homozygous. 8 cases were heterozygous with 608TC and 1 case was combined with 608TC. 5 cases were heterozygous with 341AG and 5 cases were heterozygous with 235delC heterozygosity. 4 cases were heterozygous with 439TG heterozygosity. 1 case was heterozygous with 439TG heterozygosity. 457 GA heterozygosity: 1 case: 521 GA homozygous 2 cases. Four common polymorphic base changes were found in the control group. Conclusion: this study suggests that the mutation of GJB2 gene in Kazakh non-syndromic deafness patients in Xinjiang has the characteristics of race and region. The GJB2 carrier rate is high in the Kazakh deafness population in this area, and 35delG is the common mutation mode in this study.
【作者单位】：新疆医科大学附属中医医院耳鼻咽喉科;新疆医科大学中医学院;
【基金】：新疆维吾尔自治区自然科学基金(No:2011211A096)
【分类号】：R764.43

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