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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 mutation frequency and major mutation of GJB6 gene in children with nonsyndrotoxic deafness in Hubei Province of China. Methods: A total of 180 blood samples were collected from 925 non-syndromic prelingual deaf children and normal hearing control group in Hubei Province, China. The del (GJB6-D13S1830) was detected by PCR. The coding region of GJB6 gene was amplified and PCR products Direct sequencing, the use of Chromas software sequencing results analysis. Results: None of the 925 children and the normal control group were found to have del (GJB6-D13S1830) common in the West, and no other mutations in the GJB6 gene were found. Conclusion: The non-syndromic prelingual deafness in Hubei Province of China is not caused by GJB6 gene mutation, and the detection of GJB6 gene mutation is of little significance.