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目的探讨昆明地区青少年非综合征遗传性耳聋(NHI)患者病因学特点,揭示该地区NHI人群的常见致病基因,分析遗传因素在耳聋致病因素中的作用。方法采用基因芯片技术检测昆明地区某聋哑学校110例NHI患者4个耳聋基因中常见的13个位点:包括GJB2基因35del G、155del TCTG、176del16、235del C和299del AT,SLC26A4基因1229C>T、2168A>G和IVS7-2A>G,线粒体DNA基因1555A>G、1494C>T、7445A>G和12201T>C,GJB3基因538C>T位点。结果携带遗传性耳聋相关突变基因的患者有21例(19.1%,21/110)。其中GJB2突变者14例,包括235del C纯合突变6例,235del C单杂合突变2例,235del C复合299del AT突变4例,235del C复合176del16突变2例;SLC26A4突变5例,包括IVS7-2A>G纯合突变3例,IVS7-2A>G杂合突变2例;线粒体基因突变(mt DNA)2例,mt DNA1494C>T均质突变及mt DNA7445A>G均质突变各1例。结论昆明地区青少年NHI患者中耳聋易感基因检出率较高,GJB2基因突变比例最高。
Objective To investigate the etiological characteristics of non-syndromic deafness (NHI) in adolescents in Kunming and to reveal the common virulence genes of NHI in this region and to analyze the role of genetic factors in the pathogenesis of deafness. Methods Thirteen sites of four deafness genes were detected in 110 NHI patients in a deaf-mute school in Kunming using gene chip technology: 35del G, 155del TCTG, 176del16, 235del C and 299del AT, SLC26A4 1229C> T , 2168A> G and IVS7-2A> G, mitochondrial DNA genes 1555A> G, 1494C> T, 7445A> G and 12201T> C, GJB3 gene 538C> T sites. Results There were 21 patients (19.1%, 21/110) with inherited deafness related mutations. Including GJB2 mutation in 14 cases, including 235del C homozygous mutation in 6 cases, 235del C heterozygous mutation in 2 cases, 235del C complex 299del AT mutation in 4 cases, 235del C composite 176del16 mutation in 2 cases; SLC26A4 mutation in 5 cases, including IVS7- 2A> G homozygous mutation and 2 IVS7-2A> G heterozygous mutation; 2 cases of mitochondrial gene mutation (mt DNA), 1 case of mt DNA1494C> T homogeneous mutation and mt DNA7445A> G homogeneous mutation. Conclusion The detection rate of susceptibility genes of middle ear deafness is higher in young patients with NHI in Kunming area, and the highest proportion of GJB2 gene mutation is found.