【摘要】 目的 研究新疆维吾尔自治区301例重度及极重度非综合征型耳聋患儿耳聋基因筛查结果，为后期人工耳蜗术后康复及遗传咨询提供参考。方法 收集2017～2019年在新疆维吾尔自治区人民医院就诊的重度及极重度非综合征型耳聋患者301例。知情同意后对患者进行耳聋基因筛查，包含GJB2、SLC26A4、mt12SrRNA、OTOF、SLC17A8基因中的25个位点(c.35delG,c.167delT,c.176＿191del16,c.235delC,c.299＿300delAT,c.281C>T,c.589G>A,c.IVS7-2A>G,c.1174A>T,c.1226G>A,c.1229C>T,c.IVS15+5G>A,c.1975G>C,c.2027T>A,c.2162C>T,c.2168 A>G,c.1494C>T,c.1555A>G,c.1585A>G,c.1047A>G,c.1095T>C,c.960＿961insC/961delT,c.4023G>A,c.4819C>T,c.824C>A),并对检测结果进行分析。结果 301例重度及极重度非综合征型耳聋患者中共计筛查出阳性突变患者80例，总检出率为26.58%(80/301),其中GJB2、SLC26A4、mt12SrRNA基因的突变率分别为10.96%(37/301)、12.62%(38/301)、4.32%(13/301)。GJB2突变的主要形式为c.235delC和c.35delG,分别占突变人数的37.50%(30/80)和8.75%(7/80);SLC26A4突变的主要形式为c.IVS7-2A和c.1174 A>T,分别占突变人数的26.25%(21/80)和11.25%(9/80);mt12S rRNA主要突变形式为c.960＿961insC/961delT和c.1555A>G,分别占突变人数的7.50%(6/80)和5.00%(4/80)。未检测出OTOF中的c.4023G>A、c.4819C>T突变和SLC17A8中的c.824C>A突变。汉族中突变位点的总检出率极显著高于维吾尔族(χ~2=19.064、P<0.001)。结论 GJB2、SLC26A4为新疆维吾尔自治区重度及极重度非综合征型耳聋患儿常见致病基因。维吾尔族中可能存在其他热点突变位点。更多还原

【Abstract】 Objective To study the results of the deafness gene in 301 children with severe and very severe non-syndrome deafness in Xinjiang, to provide a reference for rehabilitation and genetic counseling after cochlear implantation. Methods A total of 301 patients with severe and very severe non-syndrome deafness who were admitted to the People′s Hospital of Xinjiang Uygur Autonomous Region from 2017 to 2019 were collected. After informed consent, the patients were screened for deafness genes, including 25 loci in GJB2, SLC26A4, mt12SrRNA, OTOF, and SLC17A8 genes(c.35delG,c.167delT,c.176＿191del16,c.235delC,c.299＿300delAT,c.281C>T,c.589G>A,c.IVS7-2A>G,c.1174A>T,c.1226G>A,c.1229C>T,c.IVS15+5G>A,c.1975G>C,c.2027T>A,c.2162C>T,c.2168A>G,c.1494C>T,c.1555A>G,c.1585A>G,c.1047A>G,c.1095T>C,c.960＿961insC/961delT,c.4023G>A,c.4819C>T,c.824C>A), and the detection results were analyzed. Results Among 301 cases of severe and very severe non-syndrome deafness, 80 cases of positive mutation were screened, and the total detection rate was 26.58%(80/301). The mutation rates of GJB2, SLC26A4, and mt12SrRNA genes were 10.96%(37/301), 12.62%(38/301), and 4.32%(13/301), respectively. The main forms of GJB2 mutations were c.235delC and c.35delG, accounting for 37.50%(30/80) and 8.75%(7/80) of the mutations, respectively. The main forms of SLC26A4 mutations were c.IVS7-2A and c.1174 A>T, accounting for 26.25%(21/80) and 11.25%(9/80) of the mutations, respectively. The main mutation forms of mt12SrRNA were c.960＿961insC/961delT and c.1555A>G, accounting for 7.50%(6/80) and 5.00%(4/80) of the mutations, respectively. The c.4023G>A and c.4819C>T mutations in OTOF and c.824C>A mutations in SLC17A8 were not detected. The total detection rate of mutation sites in the Han nationality was significantly higher than that in the Uygur nationality(χ~2=19.064, P<0.001). Conclusion GJB2 and SLC26A4 are common pathogenic genes in children with severe and very severe non-syndrome deafness in Xinjiang. There may be other hot spot mutation sites in the Uygur nationality.更多还原