遗传性耳聋常见致病基因及筛查方法的研究进展

摘要

Deafness,a common disability affected human health,was mostly hereditary. There were more than one hundred deafness genes identified. In our country,the most common genes involved in deafness are GJB2, SLC26A4,12SrRNA. With the development of molecular biology,the methods to detect deafness genes,including restriction enzyme mapping,denaturing high performance liquid chromatography,high-resolution melt, and gene chip,were developed. Gene chip technology is a rapid method for screening deafness genes. The accurate and rapid diagnosis of hereditary deafness is helpful to further treatment,so as to improve the quality of life. This article reviewed the morbific genes and screening methods.%　　耳聋是影响人类健康和造成人类残疾的常见疾病，绝大部分耳聋是由遗传因素造成的。目前人类研究发现的致聋基因已有百余种，在中国最常见的致聋基因为GJB2、SLC26A4和12SrRNA。现今分子生物学飞速发展，用于耳聋基因的检测方法众多，包括酶切法、变性高效液相色谱技术、高分辨率熔解曲线分析和基因芯片，基因芯片技术是一种近几年发展起来并应用于筛查的快速检测方法。对遗传性耳聋的准确快速诊断有利于指导对患者进一步治疗，从而改善其生存质量。综述耳聋的常见致病基因及其筛查方法。