运城地区耳聋患者常见耳聋基因突变分析

目的通过筛查运城地区耳聋患者常见耳聋基因GJB2、PDS和线粒体DNAl555位点的突变频率，来研究该地区常见耳聋基因突变的发生情况。方法采集运城市特殊教育学校75例耳聋患者外周血，对目的基因扩增并测序。结果75例患者中，45例患者的GJB2基因发生突变，其中，c．235delc、e．79G〉A和c.341A〉G的突变频率较高，分别为12％、22％和18．7％，另外还检测出4个突变频率较低的位点C．608T〉C（2％）、C．109G〉A（0．67％）、c．368C〉A（1．33％）和C．176—191del16（0．67％）；3例患者的PDS基因第19外显子发生突变，C．2168A〉G与IVs7—2G〉A突变频率分别为1．33％和2％；仅有1例患者mtDNA1555发生突变。结论通过对山西运城地区常见耳聋基因突变的研究，对建立山西省耳聋基因突变数据库提供素材，同时也为耳聋的预防，基因诊断及治疗提供强有力的依据。

Common deafness gene mutation analysis from deafness patients in Yuncheng area.

Objective ： To research the situation of deafness gene mutation in Yuncheng area by detecting the mutation rate of common deafness gene GJB2, PDS and mtDNA1555. Methods ： Collection 75 deaf patients peripheral blood of Yuncheng special education school, and PCR the target gene to sequencing analysis. Results： 75 patients of GJB2 gene detected gene mutations in 45 patients, what＇s more, mutations such as c. 235delc mutation rate is 12%, c. 79 G 〉 A mutation rate is 22%, c. 341 A 〉 G mutation rate is 18.7%. On the other hand, we detect 4 mutation sites, c. 608 T〉C （2%）, c. 109 G〉A （0.67%）, c. 368 C〉A （1.33%） and c. 176 - 191dell6 （0. 67% ） ; PDS gene exon 19 gene mutation has been detected in 3 patients; only one person has been found mutation in mtDNA1555. Conclusion： Our study screening out the GJB2 gene mutation＇s rate is higher in Yuncheng area. What＇s more, our study provide experimental data for deafness gene screening, theoretical basis for the early diagnosis and treatment of deafness.