畲族人群遗传性非综合征性常见耳聋基因突变谱的筛查

目的：筛查分析福建畲族常见耳聋基因突变在不同听力表型人群中的携带分布情况，以探讨畲族耳聋患者基因突变的特点。方法：通过耳鼻喉科专科检查和听力检测，选取150例先证者接受多项常见耳聋基因检测，包括SLC26A4编码区测序、GJB2编码区测序和mtDNAc1494T／A1555G突变基因芯片检测。其中，双耳感音神经性聋102例，单耳感音神经性聋18例，有耳聋家族史但听阈正常者30例。结果：150例受检者的SLC26A4基因、GJB2基因、mtDNAA1555G／C1494T突变检出率分别为3．3％、6％、2％、0．7％。结论：畲族听损患者中GJB2基因突变阳性检出率较高，应重视对新生儿的常规耳聋基因的筛查和诊断。

The screening of commom deafness gene mutations spectrum in She ethnicity patients with gene nonsyndromic deafness in Fujian province

Objective： To analyze the prevalence and the positive rate of common mutations in the ethnicity deaf group , by means of screening their hearing phenotype and deafness genes. Methods： 150 patients with nonsyndromic hearing loss were tested with sequence analysis and microarray detection including mutations in coding region of SLC26A4 , GJB2 and mtDNA C1494T/ AI555G. 102 have bilateral sensorincural hearing loss, 18 have unilateral hearing loss, 30 have normal hearing threshold but they have deafness family history. Result： Mutation positive, rate of SLC26A4 , GJB2 , mtDNA A1555G/C1494Twere 3.3%, 6%, 2% and O. 7% respectively. Conclusion： The most common mutati.n in known deafness genes is GJB2o The genetic screening and diagnosis in newborns should be put emphasis on regularly.