江苏南通地区非综合征性耳聋GJB2基因突变分析

目的 研究南通地区非综合征性耳聋GJB2基因突变情况。方法 收集南通地区海安县和如皋县聋哑学校学生100名和健康对照组50名，利用PCR扩增及限制性内切酶酶切分析初筛GJB2 235delC突变者，然后再行DNA直接测序。结果 耳聋组中共发现三种突变：235delC、176—191del16、299—300delAT。235delC是主要突变方式．约30％的患者携带此突变；299—300delAT和176-191del16突变检出率分别为9％和8％。对照组未发现这些突变。结论 南通地区非综合征性耳聋GJB2基因突变率较高，因此在南通地区进行广泛的生育前耳聋基因筛查工作有重要意义。

GJB2 mutation analysis for patients with nonsyndromic hearing impairment from Nantong,Jiangsu province of China

Objective To study mutations in the GJB2 gene in patients with nonsyndromic hearing impairment from Nantong area. Methods One hundred cases with nonsyndromic hearing impairment and 50 adults with normal hearing were selected for the study. The code region of GJB2 gene was amplified by polymerase chain reaction(PCR),then the GJB2 235 delC mutation was distinguished by ApaI restricted enzyme digestion method and the mutations in other sites of the GJB2 gene were detected by direct DNA sequencing. Results Three types of GJB2 mutation were detected. The 235delC mutation was the prevalent pattern of GJB2 gene mutations which was present in 30% of the cases. The mutation detection rate of 299-300delAT and 176-191del16 was 9% and 8%,respectively. Conclusion A high frequency of GJB2 gene mutations was found in the deaf population in Nantong area. Screening and testing for these mutations are effective methods to prevent hereditary hearing loss.