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目的分析广西地区222例感音神经性聋患者常见耳聋基因的突变特点,为临床防聋及治聋提供参考。方法采用晶芯?十五项遗传性聋基因检测试剂盒(微阵列芯片法)对广西地区222例感音神经性聋患者进行常见的4种耳聋基因的15个突变位点检测:GJB2(35del G、235delC、176del16、299del AT)、SLC26A4(2168A>G、IVS7-2A>G、1174A>T、1226G>A、1229C>T、1975G>C、2027T>A、IVS15+5G>A)、线粒体DNA12SrRNA(1494C>T、1555A>G)和GJB3(538C>T),对未确诊的阳性结果进行基因全序列分析。结果 222例患者中23例(10.36%,23/222)被检测出耳聋基因突变,其中,GJB2 235delC纯合突变3例(1.35%),杂合突变8例(3.60%),GJB2 35delG杂合突变2例(0.90%),GJB2 235delC/109A>G复合杂合突变2例(0.90%);SLC26A4IVS7-2A>G杂合突变2例(0.90%),SLC26A4 1229C>T纯合突变2例(0.90%),IVS7-2A>G/IVS11+47T>C/1548insC复合杂合突变2例(0.90%);GJB3 538C>T杂合突变1例(0.45%);线粒体DNA12SrRNA 1555A>G异质突变1例(0.45%);1例(0.45%)同时携带GJB2 235delC杂合突变及SLC26A4 1226G>A杂合突变。结论本组广西地区感音神经性聋患者耳聋基因突变率低于全国水平,主要以GJB2基因突变为主,其次是SLC26A4基因突变。
Objective To analyze the mutation characteristics of common deafness genes in 222 patients with sensorineural hearing loss in Guangxi and provide reference for clinical deafness and deafness treatment. Methods A total of 222 mutations of GJB2 (35del) were detected in 22 deafness-sensitive patients with sensorineural deafness in Guangxi region by using 15 core hereditary deaf gene detection kits (microarray chip method) G, 235delC, 176del16, 299del AT), SLC26A4 (2168A> G, IVS7-2A> G, 1174A> T, 1226G> A, 1229C> T, 1975G> C, 2027T> A, IVS15 + 5G> A) DNA12SrRNA (1494C> T, 1555A> G) and GJB3 (538C> T) were used to perform full-length genomic analysis of unconfirmed positive results. Results The deafness gene mutations were detected in 23 of 222 patients (10.36%, 23/222). Among them, 3 cases (1.35%) of GJB2 235delC homozygous mutation, 8 cases (3.60%) heterozygous mutation, There were 2 cases (0.90%) of GJB2 235delC / 109A> G compound mutation and 2 cases (0.90%) of SLC26A4IVS7-2A> G heterozygous mutation, and 2 cases of SLC26A4 1229C> T homozygous mutation 0.90%), 2 cases (0.90%) of IVS7-2A> G / IVS11 + 47T> C / 1548insC complex heterozygous mutation, 1 case of GJB3 538C> T heterozygous mutation (0.45%), mitochondrial 12SrRNA 1555A> 1 case (0.45%); 1 case (0.45%) carried GJB2 235delC heterozygous mutation and SLC26A4 1226G> A heterozygous mutation. Conclusion The deafness gene mutation rate in patients with sensorineural hearing loss in Guangxi area is lower than the national level, mainly GGB2 gene mutation, followed by SLC26A4 gene mutation.