青海地区先天性汉、藏、回族聋儿常见耳聋基因突变情况

Analysis of Deafness Genes Mutation of Congenital Deafness Children of Han,Tibetan and Hui in Qinghai region

目的了解青海地区先天性汉、藏、回族聋儿常见耳聋基因突变情况,初步掌握三个民族耳聋基因突变的特点。方法选取人工耳蜗植入患儿178例,其中汉族94例,藏族43例,回族41例,提取被检者外周静脉血基因组DNA,采用遗传性耳聋基因检测试剂盒对常见的4个耳聋基因(GJB2,GJB3,SLC26A4,mt12S rRNA)的9个突变位点(35del G,176del16bp,235del C,299del AT,538C>T,IVS7-2A>G,2168A>G,1555A>G,1494C>T)进行检测分析。结果 (1)178例受检患儿中,92例存在被检测基因突变,突变率为51.69%,其中汉、藏、回族常见耳聋基因的检出率分别为40.42%、53.48%、75.60%,差异有统计学意义;(2)汉族耳聋患者检出GJB2突变者27例,GJB3突变者2例,SLC26A4突变者7例,mt12S rRNA突变者2例;藏族患儿检出GJB2突变者8例,GJB3突变者1例,SLC26A4突变者12例,mt12S rRNA突变者2例;回族患儿检出GJB2突变者20例,GJB3突变者4例,SLC26A4突变者3例,mt12S rRNA突变者4例。结论汉、藏、回三个民族耳聋患儿的基因突变谱存在一定差异;三民族耳聋患儿中均能检测到GJB2、GJB3、SLC26A4及mt12S rRNA基因,其中GJB2基因突变检出率最高,其次为SLC26A4基因;藏、回民族患儿的耳聋突变基因检出率高于汉族患儿,SLC26A4是藏族患儿常见的耳聋基因,而GJB2基因的突变在回族及汉族中列首位。

Objective Han,Tibetan and Hui in To understand the common deafness genes mutation Qinghai region, and to clarify the characteristics of the of congenital deafness children of mutation of the three national deaf genes.Methods We choose 178 cases of children with cochlear implants, among which 94 were Han Chinese ,43 cases Tibetans,41 cases of Hui nationality.Child guardian signed informed consent after peripheral venous blood genomic DNA extraction were found, the hereditary deafness gene detection kit for common four deafness gene （GJB2,GJB3,SLC26A4 1）.. mtl2S rRNA） of 9 mutations （ 35delG, 176del16bp, 235delC, 299delAT, 538C 〉 T, IVS7 - 2A〉G,2168A〉G, 1555A〉G, 1494C〉T）for testing.Results （1）In children with 178 cases tested,92 cases of tested gene mutation of the existence and mutation rate was 51.69% ,and Hart,Tibetan, Hui, common deafness gene detec- tion rate was 40.42%, 53.48%, 75.60%, respectively.The difference was statistically significant. （2） Han GJB2 mutation detection of 27 patients with deafness, GJB3 mutations in 2 cases ,7 cases of SLC26A4 mutations ,and mtl2S rRNA mutations in 2 cases;Tibetan deafness patients detected with 8 cases of GJB2 mutations, GJB3 mutations in 1 case,SLC26A4 mutations in 12 cases,and 12S rRNA mitochondrial mutations in 2 cases;Hui deafness patients detected with 20 cases of GJB2 mutations, GJB3 mutation in 4 cases,3 cases of SLC26A4 mutations, and mtl2S rRNA mutations in 4 cases.Conclusions Three national deaf children with certain differences in gene mutation spectrum; Three national can detect the GJB2, GJB3, SLC26A4, mtl2S rRNA genes, and GJB2 gene mutation detection rate are highest, followed by SLC26A4 gene mutation of syndrome type deafness with;Tibetan, Hui nationality children with deafness mutation detection rate is higher than that of the Han nationality children, SLC26A4 is Tibetan patients with common deafness genes, and GJB2 gene mutations in the Hui and Han nationality in the first place.