湖北地区非综合征型学语前聋患儿GJB6基因突变研究

The study on GJB6 gene mutations in prelingual nonsyndromic hearing impairment in Hubei province

目的:探讨GJB6基因突变在中国湖北地区非综合征型学语前聋患儿的突变频率及主要的突变方式。方法:分别采集中国湖北地区925例非综合征型语前聋患儿及听力正常对照组180例的血样,应用PCR技术检测del(GJB6-D13S1830);扩增GJB6基因的编码区,PCR产物进行直接测序,运用Chromas软件进行测序结果分析。结果:925例患儿及正常对照组均未发现在西方常见的del(GJB6-D13S1830),也没有发现GJB6基因的其他突变。结论:中国湖北地区非综合征型学语前聋的发生不是GJB6基因突变而导致,针对GJB6的基因突变检测意义不大。

Objective：To Investigate the occurring frequency and manner of the GJB6 gene mutations from 925 children with prelingual nonsyndromic hearing impairment（NSHI） living in Hubei province. Methods：Blood samples were obtained from 925 children with prelinguai NSHI and 180 normal controls.Genomic DNA was extracted from the whole blood.PCR and direct sequencing were used to analyze the coding region of GJB6 gene. Results：Neither del（GJB6-D13S1830） or other mutation in GJB6 was detected in 925 prelingual NSHI patients and normal controls. Conclusion：GJB6 mutation is not the common cause of prelingual NSHI in Hubei province.The findings suggest that GJB6 mutation detection will not be an effective means to reduce the occurrence of prelingual NSHI.