新疆地区维吾尔族和汉族非综合征性耳聋GJB2基因突变研究

目的探讨GJB2基因突变在新疆地区主要民族维吾尔族和汉族非综合征性耳聋（NSHL）人群的发生情况,以初步掌握该地区主要不同民族GJB2基因的突变谱和突变频率。方法新疆地区维吾尔族61人、汉族66人共有127例耳聋者参与该研究,同时维吾尔族听力正常者98人作为对照研究。经详细地病史采集并抽取静脉血,血样提取基因组DNA后对所有标本进行直接测序。结果维吾尔族和汉族耳聋人群GJB2基因突变携带频次基本相同。GJB2 35delG突变仅在维吾尔族耳聋群体中发现,而GJB2 235delC突变在维吾尔族和汉族耳聋人群都有发现,而且携带率差异无统计学意义。GJB2 35delG突变在维吾尔族、汉族耳聋者和维吾尔族对照的等位基因频率分别为7．4％（9／122）,0（0／128）和0（0／196）。GJB2 235delC突变在维吾尔族和汉族耳聋者中分别为5．7％和9．8％,299．300delAT突变分别为0．8％和5．5％。V27I和E114G是各组中最常见的多肽。结论新疆地区GJB2基因突变有较高的发生率,新疆维吾尔族的35delG携带率明显高于汉族,235delC在维吾尔族和汉族中均较为常见。这些发现为特定地区耳聋患者的临床基因诊断提供了理论依据。

Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China

OBJECTIVE: To investigate the prevalence of GJB2 mutations in Uigur and Han ethnic groups in Xinjiang Uigur Autonomous Region, China and to understand the mutation spectrum and frequency of the GJB2 gene in these 2 ethnic groups. METHODS: Questionnaire survey was conducted among 61 Uigur deaf-mute students, 60 Han deaf-mute students, and 98 normal Uigurs and 301 normal Han people as controls. Peripheral blood samples were collected to undergo PCR and sequencing of GJB2 gene. RESULTS: The GJB2 mutation rate of the Uigur deaf-mute students was 19.7%, not significantly different from that of the Han deaf-mute students (17.2%). GJB2 35delG was found only in the Uigur deaf-mutes with a carrier rate of 11.5%, whereas 235delC was identified in both Uigur and Han deaf-mutes. The allelic frequency of 35delG mutation in the Uigur and Han deaf-mutes and the Uigur controls were 7.4% (9/122), 0 (0/128), and 0 (0/196) respectively. The allelic frequencies of the GJB2 235delC mutations in the Uigur and Han deaf-mute students were 5.7% and 9.8%, and the allelic frequencies of 299 - 300delAT were 0.8% and 5.5%. V27I and E114G were the most frequent types of polymorphism. CONCLUSION: There is a rather high mutation rate of GJB2 gene in Xinjiang. The carrier frequency of 35delG of the Uigurs is significantly higher than that of the Han population. 235delC is common in both Uigur and Han people.