CX31.1基因在遗传性聋家系中的突变分析

目的：通过对非综合征型聋家系进行CX31．1基因的突变分析，以鉴定CX31．1基因是否为遗传性聋的致病基因。方法：通过对从全国10多个省收集到的遗传性聋家系61个，其中常染色体隐性非综合征型聋家系37个，常染色体显性非综合征型聋家系24个的106例成员及50例正常人进行聚合酶链反应(polymerasc chain reaction，PCR)及直接测序，对遗传性聋个体进行CX31．1基因的突变检测。结果：发现CX31．1的同义突变1种，多态1种，内含子缺失2种。结论：我们目前的检测虽未能证明CX31．1基冈突变是上述聋家系的致病基因，但根据基因结构分析该基因与遗传性聋的关系不能排除，有待收集更多的家系做进一步的研究。

Mutation analysis of gene CX31.1 in the hereditary haring loss pedigrees

Objective:To make clear of the relation between CX31.1 and hereditary hearing loss by the mutation detect of gene CX31.1 in nonsyndromic hearing loss pedigrees.Method:Thirty-seven pedigrees of autosomal recessive inheritance hereditary hearing loss and twenty-four pedigrees of autosomal dominant inheritance hereditary hearing loss were collected from decades provinces of China. By using polymerase chain reaction and direct sequence, we screened the members of this pedigrees for the mutations of gene CX31.1.Result:One polymorphism and one synonymous mutation of gene CX31.1 and two absent pieces in the introns of CX31.1 were found.Conclusion:Though we have not found mutations of CX31.1 which can induce corresponding hereditary deafness of the pedigrees inspected before, we don't think we can deny gene CX31.1 is a nosogenesis gene of hereditary hearing loss, and what we can do is to collect enough pedigrees to continue our research.