| 新疆不同民族耳聋人群耳聋基因常见突变的筛查 |
| |
| 引用本文： | 陈俞,赵娟,皮力东·库亚西,胡斌,张华.新疆不同民族耳聋人群耳聋基因常见突变的筛查[J].新疆医科大学学报,2011,34(8):850-854. |
| |
| 作者姓名： | 陈俞 赵娟 皮力东·库亚西 胡斌 张华 |
| |
| 作者单位： | 新疆医科大学第一附属医院耳鼻咽喉科,新疆,乌鲁木齐,830011 |
| |
| 基金项目： | 新疆医科大学第一附属医院青年基金 |
| |
| 摘 要： | 目的探讨新疆4个民族耳聋患者常见基因突变的特点。方法选取非综合征性耳聋患者357例,其中维吾尔族184例,汉族133例,哈萨克族15例,回族25例,通过血样抽取和DNA提取后利用基因芯片对所选样本的8个突变位点进行检测。结果汉族、哈萨克族、回族和维吾尔族常见耳聋基因的检出率分别为30.83%、20.00%、16.00%和12.50%,差别有统计学意义;汉族耳聋患者检出235delC、299-300delAT、176del16、IVS7-2A>G、2168A>G、1555A>G和1494C>T均质突变;维吾尔族耳聋患者检出235delC、35delG、187delG、IVS7-2A>G、2168A>G和1555A>G均质突变;哈萨克族耳聋患者中检测出35delG和IVS7-2A>G突变;回族耳聋患者检出235delC、299-300delAT、176del16和35delG突变。结论 4个民族耳聋患者的耳聋基因突变谱存在一定差异。235delC是维吾尔族、汉族和回族耳聋患者的热点突变,35delG是维吾尔族和哈萨克族的热点突变,IVS7-2A>G是汉族耳聋患者热点突变;187delG是维吾尔族耳聋患者中首次发现的病理性突变。
|
| 关 键 词： | GJB2基因 SLC26A4基因 12srRNA基因 聋 新疆 突变 |
Screen of gene mutations in non-syndromic deafness patients of main four chinese nationalities in Xinjiang, China |
| |
| CHEN Yu,ZHAO Juan,Pilidong·Kuyaxi,HU Bin,ZHANG Hua.Screen of gene mutations in non-syndromic deafness patients of main four chinese nationalities in Xinjiang, China[J].Journal of Xinjiang Medical University,2011,34(8):850-854. |
| |
| Authors: | CHEN Yu ZHAO Juan Pilidong·Kuyaxi HU Bin ZHANG Hua |
| |
| Institution: | CHEN Yu,ZHAO Juan,Pilidong·Kuyaxi,HU Bin,ZHANG Hua(Department of Otorhinolaryngology,First Affiliated Hospital,Xinjiang Medical University,Urumqi 830011,China) |
| |
| Abstract: | Objective We scanned eight loci of three deafness-associated genes in non-syndromic deafness(NSD) patients of Uygur,Kazak,Hui and Han nationalities residing in Xinjiang,China,and characterize the features of Uygur,Kazak,Hui NSD patients in comparison with Han population.MethodsNSD patients were enrolled,including Uyhur,Kazak,Hui and Han nationalities.Blood samples were collected for DNA extraction.DNA microarray was performed on eight loci.ResultsThe mutation detection rates of prevalent deafness-associated... |
| |
| Keywords: | GJB2 SLC26A4 12S rRNA deafness Xinjiang mutation |
| 本文献已被 CNKI 万方数据 等数据库收录！ |
|
