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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。
Objective To investigate the prevalence of GJB2 gene mutations in Uygur and Han nationality non-syndromic deafness (NSHL) in Xinjiang Uygur Autonomous Region and Han ethnicity to find out the mutation and mutation frequency of GJB2 gene among different ethnic groups in the region. Methods Sixty-one Uighurs from Xinjiang and a total of 127 deaf patients from 66 Han people participated in the study, and 98 Uighur hearing-impaired children were included in the study. After a detailed history of venous blood collection and extraction, blood samples were extracted from genomic DNA after direct sequencing of all specimens. Results The prevalence of GJB2 mutations in Uygur and Han deaf people were basically the same. GJB2 35delG mutation was only found in Uyghur deafness population, but GJB2 235delC mutation was found in both Uygur and Han deaf people, and the difference in carrying rate was not statistically significant. The allele frequency of GJB2 35delG mutation was 7.4% (9/122), 0 (0/128) and 0 (0/196) in Uighur, Han deaf and Uighur controls, respectively. The GJB2 235delC mutation was 5.7% and 9.8% in Uygur and Han deaf, respectively, and the 299-300delAT mutation was 0.8% and 5.5%, respectively. V27I and E114G are the most common polypeptides in each group. Conclusions The prevalence of GJB2 gene mutation is high in Xinjiang. The carrying rate of 35delG in Xinjiang Uighur is significantly higher than that in Han. The 235delC is more common in Uygur and Han nationality. These findings provide a theoretical basis for clinical gene diagnosis in deaf patients in a particular area.