新疆地区汉族和维吾尔族耳聋基因突变的比较研究  

Comparative analysis of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region of China

作　　者：李琦[1] 方如平[1] 黄德亮[2] 王国建[2] 刘新[2] 戴朴[2] 

机构地区：[1]南京医科大学附属南京儿童医院耳鼻咽喉一头颈外科,南京210008 [2]解放军总医院耳鼻咽喉-头颈外科

出　　处：《临床耳鼻咽喉头颈外科杂志》2010年第1期11-15,共5页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：国家自然科学基金面上项目(No:30572015)

摘　　要：目的:分析中国新疆地区汉族和维吾尔族耳聋患者的常见耳聋基因突变,为该地区耳聋患者的临床基因诊断提供理论依据。方法:调查对象为新疆地区乌鲁木齐和库尔勒特教学校的125例耳聋患者,其中汉族64例,维吾尔族61例,听力检查全部为重度-极重度感音神经性聋。所有受检者均采集外周血并提取DNA,进行GJB2全序列、包含SLC26A4IVS7-2A>G、线粒体DNA12SrRNA1494和1555位点的突变分析。结果:新疆地区汉族耳聋患者GJB235delG和SLC26A4IVS7-2的等位基因频率分别为7.4%和10.1%,维吾尔族耳聋人群未发现GJB235delG和SLC26A4IVS7-2突变,两者比较差异有统计学意义。而GJB2235delC、299-300delAT及线粒体DNAA1555G、C1494T维吾尔族和汉族比较差异无统计学意义。结论:新疆地区汉族和维吾尔族GJB235delG和SLC26A4IVS7-2A>G有不同的等位基因频率,新疆地区汉族和维吾尔族常见耳聋基因突变存在异同。Objective：To investigate the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region and determine the relationship between ethnicity and mutations.Method：DNA were extracted from peripheral blood of 125 deaf patients from Urumqi and Korla special educational schools in Xinjiang.Audiologic examinations showed that all patients had severe to profound bilateral sensorineural hearing hoss.The coding region of GJB2 gene,SLC26A4 and mitochondrial DNA target fragments were amplified by polymerase chain reaction（PCR）.Mutations in GJB2 gene,SLC26A4IVS7-2 AG,mtDNA 1494CT and mtDNA1555 AG were identified by sequencing analysis.Result：Allelic Frequency of the GJB2 35delG and SLC26A4IVS7-2 AG mutations in Han deaf students were 7.4%and 10.1%,respectively,whereas not found in Uigur deaf groups.The difference was statistically significant.We did not find significant differences in GJB2 235 delC,299-300delAT,mtDNA A1555G and C1494T allelic frequency between Uigur and Han students.Conclusion：Prevalence of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang has a great diversity.

关 键 词：听力损失 基因诊断 线粒体DNAA1555G 线粒体DNAC1494T SLC26A4IVS7-2A〉G GJB2 基因突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]