摘要
目的分析玉溪市某特殊学校131例青少年非综合性耳聋患者的常见耳聋基因突变位点,为检测和治疗耳聋提供病因学依据。方法采用基因芯片技术检测玉溪市某聋哑学校131例非综合征性耳聋患者4个基因的9个位点:包括GJB2基因c.35del G、c.176_191del 6、c.235del C、c.299del AT;GJB3基因c.538C>T;SLC26A4基因c.2168A>G、c.IVS7-2A>G;线粒体12SrRNA基因的m.1494C>T、m.1555A>G位点。结果携带遗传性耳聋相关突变基因的患者27例(28.3%,27/131)。其中,GJB2突变者20例,包括c.176_191del 6突变1例,为汉族;c.235del C突变17例,其中10例为汉族,2例为彝族,5例为哈尼族;c.299del AT突变2例,均为汉族。SLC26A4突变者8例,均为汉族,包括c.2168A>G突变4例,c.IVS7-2A>G突变4例;线粒体12SrRNA基因m.1555A>G位点突变2例,均为汉族,其他民族中未发现4个基因9个位点的突变对象。结论青少年非综合征性耳聋患者以GJB2基因和SLC26A4基因为最主要的致病基因,其中c.235del C突变为最常见突变位点,其次为c.IVS7-2A>G和c.2168A>G突变。
Objective To analyze the common deafness gene mutation sites in adolescent deaf patients in Yuxi,and to provide etiological basis for detecting and treating deafness. Methods Totally 9 loci in 4 genes of 131 patients with non-syndromic hearing loss in a deaf mute school in Yuxi were detected by gene chip tech nology,including GJB2 gene c. 35 del G,c. 176_191 del G,c. 235 del C,c. 299 del AT,as well as GJB3 gene c. 538 C〉T and SLC26A4 gene c. 2168A〉G,c. IVS7 2A〉G;n, itochondrial 12SrRNA genem. 1494 C〉T,m. 155SANG site. Results Totally 27 cases （28. 3〉 ,27/131） of patients with hereditary deafness related muta ted genes were found. There were 20 cases of GJB2 mutation,including 1 case of c. 176_191 del 6 mutation, which was Han nationality. C. 235 del mutation were found in 17 cases,10 cases of which were Han nationali ty,2 cases were Yi nationality and 5 cases were Hani nationality. Two cases were c. 299 del AT mutation,both of which were Han nationality. Eight cases of SLC26 A4 mutation were all Han nationality,including 4 cases of c. 2168 A〉G mutation,and 4 cases of c. IVS7 2A 〉G mutation. Two cases were mitochondrial gene （mtDNA） m. 1555A〉G site mutation, both of were Han nationality, and no mutation objects in other ethnic groups. Conclusion The GJB2 gene and SLC26A4 gene are the main pathogenic genes of non comprehensive deafness patients in Yuxi city,with c. 235 del C mutation is the most common mutation site,followed by the c. IVS7 2A〉G and c. 2168 A〉G mutation.
作者
白雪晶
冯磊
徐文波
赵阳
罗风
罗旋
BAI Xuejing;FENG LeiA;XU Wenbo;ZHAO Yang;LUO Feng;LUO Xuan(Departrrlent of Clinical Laboratory,Yuxi Municipal People＇s Hospital of Yunnan/ The Sixth Affiliated Hospital of Kunming Medical University,Yuxi,Yunnan 653100,China)
出处
《检验医学与临床》
CAS
2018年第16期2392-2394,共3页
Laboratory Medicine and Clinic
基金
云南省科技厅-昆明医科大学应用基础研究联合专项(2017FE467)
云南省高层次卫生技术人才培养专项经费资助项目(D-201644)
关键词
非综合性耳聋
基因突变
基因芯片
non comprehensive deafness
gene mutation
gene chip
