新疆维吾尔族与汉族非综合征性耳聋患者四个耳聋基因突变谱的筛查

摘要

目的 筛查分析新疆维吾尔族和汉族非综合征性耳聋患者中4个耳聋基因的9个位点的突变携带分布状况,以探讨维吾尔族耳聋患者常见耳聋基因突变的特点.方法 通过耳鼻咽喉科专科检查和听力检测,选取维吾尔族非综合征性耳聋患者184例,汉族非综合征型耳聋患者133例,用耳聋基因芯片对4个耳聋基因GJB2、GJB3、mtDNA12S rRNA、SLC26A4常见的9个突变位点35delG、176del16、235delC、299-300delAT、538C＞T、1555A＞G、1494C＞T、2168A＞G、IVS7-2A＞G进行检测分析.结果 维吾尔族与汉族耳聋患者4个耳聋基因的9个位点总突变携带率分别为12.50%、30.83%,维吾尔族低于汉族,且差异有统计学意义(λ2=16.092,P＜0.01);GJB2在维吾尔族和汉族耳聋患者突变率分别为9.24%、14.29%,但2个民族间的差异无统计学意义(λ2=1.953,P＞0.05);SLC26A4在维吾尔族和汉族耳聋患者中的突变率分别为1.63%、13.53%,差异有统计学意义(λ2=17.683,P＜0.01);mtDNA 12S rRNA在维吾尔族和汉族耳聋患者中的突变率分别为1.63%、3.01%,差异亦无统计学意义(λ2=0.175,P＞0.05);GJB3在2个民族中的携带率均低,分别为0.75%、0.结论 维吾尔族耳聋患者常见耳聋基因突变率较低,其中SLC26A4基因突变率明显低于汉族;GJB2仍是维吾尔族耳聋患者最常见的突变基因,235delC和35delG为其热点突变.%Objective To investigate the prevalence and frequency of the common mutations in Uigur non-syndromic deafness group in Xinjiang Uigur Autonomous Region of China, by means of screening nine mutations of four known deafness genes. Methods One hundred eighty-four Uigur patients and 133 Han patients with non-syndromic hearing loss were enrolled in this study. The screening was performed on GJB2, GJB3, mtDNA 12S rRNA and SLC26A4 deafness genes of 35delG, 176de116,235de1C ,299-300delAT,538C ＞ T, 1555A ＞ G, 1494C ＞ T,2168A ＞ G, IVS7-2A ＞ G in these two groups, by means of genic microarray. Results The totlal mutation rate found in the Uigur deafness groups was 12. 50%, significantly different from that in the Han deafness groups (30. 83% ,χ2 = 16. 092 ,P ＜0. 01 ). The GJB2 mutation rate in the Uigur deafness groups was 9. 24%, not significantly different from that in the Han deafness groups ( 14. 29% ,χ2 = 1. 953 ,P ＞0. 05 ). The mutation rate of SL C26A4 was 1.63% and 13.53% respectively in Uigur and Han deafness groups, and has significant difference (χ2 = 17. 683, P ＜ 0. 01 ). The mt DNA 12S rRNA mutation rate in the Uigur deafness groups was 1.63%, not significantly different from that in the Han deafness groups (3.01%, χ2 = 0. 175, P ＞ 0. 05 ). The GJB3 mutation rate of these two deafness groups was very low, shown as 0. 75% and 0 respectively. Conclusions The mutation rate of common deafness genes is lower in the Uigar nonsyndromie deafness group, and the mutation rate of SLC26A4 genes is significantly lower than that in the Han deafness groups. The most common mutation in four known deafness genes is GJB2, whose favorite spots are 235delC and 35delG.