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目的筛查山东地区遗传性耳聋基因常见的致病突变位点,从分子流行病学角度阐明本地区的耳聋基因突变特征,为进一步的临床耳聋基因突变检测提供依据。方法选择非综合征型耳聋患者845例和听力正常且无听力损失家族史者351例,应用单管双色荧光PCR方法进行检测,对检测结果进行分析。结果耳聋患者845例中,GJB2基因235del C、299_300del AT、176_191del16、35del G、155del TCTG、512ins AACG位点的阳性检出率分别为19.1%、6.7%、0.9%、0%、0%、0.5%;G JB3基因538C>T、547G>A位点的阳性检出率分别为0.1%、0%;SLC26A4基因IVS7-2A>G、2168A>G、1174A>T、1229C>T位点的阳性检出率分别为12.9%、3.8%、1.4%、0.7%;mt DNA 12S rRNA基因A1555G、C1494T位点的阳性检出率分别为3.9%、0.1%。正常听力人群,G JB2基因235del C、299_300del AT位点和SLC26A4基因IVS7-2A>G、2168A>G位点的携带率分别为1.4%、0.9%、1.1%、0.6%,其余10个位点的携带率均为0%。结论山东地区常见的耳聋突变位点为:G JB2基因235del C、299_300del AT、176_191del16、512ins AACG;SLC26A4基因IVS7-2A>G、2168A>G、1174A>T、1229C>T;mt DNA12S rRNA基因A1555G。其中以G JB2基因235del C和299_300del AT、SLC26A4基因IVS7-2A>G和2168A>G、mt DNA 12S rRNA基因A1555G位点突变频率较高,可作为本地区耳聋基因筛查项目中的热点突变,从而有针对性地指导山东地区耳聋基因检测项目的开展。
Objective To screen common mutations of genetic deafness genes in Shandong Province and to elucidate the gene mutation characteristics of deafness in the region from the perspective of molecular epidemiology, so as to provide evidences for further clinical deafness gene mutation detection. Methods A total of 845 cases of non-syndromic deafness and 351 cases of normal hearing and no family history of hearing loss were selected and detected by single-tube two-color fluorescent PCR. The test results were analyzed. Results Among the 845 patients with deafness, the positive rates of GJB2 gene 235del C, 299_ 300del AT, 176_191del16, 35del G, 155del TCTG and 512ins AACG were 19.1%, 6.7%, 0.9%, 0%, 0%, 0.5 %; The positive detection rates of G JB3 gene 538C> T, 547G> A loci were 0.1% and 0% respectively. The positive results of SLC26A4 gene IVS7-2A> G, 2168A> G, 1174A> T and 1229C> T The detection rates were 12.9%, 3.8%, 1.4% and 0.7% respectively. The positive rates of mt DNA 12S rRNA gene A1555G and C1494T were 3.9% and 0.1%, respectively. In the normal hearing population, the carriage rates of 235delC, 299_300del AT and GST 2168A> G of GJB2 gene were 1.4%, 0.9%, 1.1% and 0.6%, respectively. The other 10 sites Carrying rate of 0%. Conclusion The common deafness loci in Shandong are 235delC, 299_300del AT, 176_191del16 and 512ins AACG of GJB2 gene; IVS7-2A> G, 2168A> G, 1174A> T and 1229C> T of SLC26A4 gene; mt DNA12S rRNA gene A1555G . GJB2 gene 235del C and 299_300del AT, SLC26A4 gene IVS7-2A> G and 2168A> G, mt DNA 12S rRNA gene A1555G site mutation frequency can be used as the local deafness gene screening project hot spot mutation, Which will guide the deafness gene detection project in Shandong Province.