目的 探讨新疆地区维吾尔族和汉族常见耳聋基因流行病学的差异.方法 本文针对新疆地区2731例非综合征型重度、极重度感音神经性耳聋患者,应用晶芯耳聋基因试剂盒,对GJB2、SLC26A4、线粒体12SrRNA、GJB3常见耳聋基因的10个突变位点(GJB2c.235delC、c.35delG、c.176del16bp、c.299300delAT,SLC26A4 IVS7-2、c.2168A>G,GJB3 c.538C>T、c.547G>A,mitochondrial 12SrRNA m.1555A>G、m.1494C>T)进行常见已知耳聋基因的抽样调查;结果 2731例新疆地区非综合征型重度、极重度感音神经性耳聋患者中,GJB2基因突变率7.84(214/2731),汉族10.56%(131/1241)、维吾尔族5.57%(83/1490),普遍低于全国其他研究报道,GJB2 c.235delC是汉族和维吾尔族突变热点;检出携带有SLC26A4基因突变的有132例,SLC26A4汉族、维吾尔族耳聋人群检出率分别9.51%(118/1241)、0.94%(14/1490);检出携带有12SrRNA基因突变的有149例,汉族120例,维吾尔族29例,占各自耳聋人群检出率的9.67%(120/1241)、1.95%(29/1490).结论 GJB2基因、SLC26A4、线粒体基因12SrRNA为新疆非综合征型耳聋常见致病基因,GJB2c.235delC是汉族和维吾尔族突变热点,携带杂合突变的耳聋患者可能有其他基因突变致聋的可能.%Objective To report results of an epidemiological analysis of nonsydromic autosomal dominant hearing loss using a gene screening kit for the GJB2, SLC26A4, mitochondrial 12SrRNA and GJB3 genes. Methods In this study, we screened for GJB2, SLC26A4, mitochondrial 12SrRNA and GJB3 gene mutations in 2,731 cases of severe non-syn-dromic sensorineural deafness in Xinjiang using a gene screening kit. Results The overall detection rate of GJB2 gene mutations was 7.84% (214/2,731): 10.56% (131/1,241) among the Han patients and 5.57% (83/1,490) among the Ui-ghur patients. The rate of SLC26A4 mutations was 9.51% (118/1,241) among the Han patients and 0.94% (14/1,490) among Uygur patients, respectively. 12SrRNA gene mutations were seen in 149 cases (Han:n=120 or 9.67%;Uygur:n=29 or 1.95%). Conclusion Mutations of the GJB2, SLC26A4 and 12SrRNA genes are common causes of non-syndromichearing loss in Xinjiang. GJB2c.235delC is the mutation hot spot among both Hans and Uygurs. Other pathogenic genes may also exist in heterozygous mutation deafness patients.
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