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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(polymerasechainreaction,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基因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。
Objective To identify whether the CX31.1 gene is the causative gene of hereditary deafness through the mutation analysis of CX31.1 gene in nonsyndromic deaf families. Methods Totally 61 hereditary deaf families were collected from over 10 provinces in China, including 37 autosomal recessive non-syndromic hearing loss pedigrees and 106 autosomal dominant non-syndromic hearing loss pedigrees. Fifty normal subjects were subjected to polymerase chain reaction (PCR) and direct sequencing to detect the mutation of CX31.1 gene in hereditary deaf individuals. The results showed that there was 1 synonymous mutation in CX31.1, 1 polymorphism and 2 intron deletion. Conclusion Although our current test failed to prove that the CX31.1 gene mutation is the causative gene of the above-mentioned deaf families, the relationship between this gene and hereditary deafness can not be excluded according to the gene structure analysis. More families need to be collected for further study.