GJB2基因在遗传性聋中的检测

Mutational Analysis of the GJB2 on Hereditary Deafness

目的对遗传性聋家系进行GJB2基因突变检测,为该病的基因诊断提供依据。方法采用PCR直接测序法对20个非综合征型遗传性聋家系的先证者(均为耳聋患者)进行GJB2基因的突变检测。结果发现了三种碱基改变:109G>A、79G>A和341G>A。109G>A是已报道的具有争议的致病突变,本实验在两个隐性遗传性聋家系的先证者中检测到109G>A纯合突变,且与耳聋共分离。79G>A和341G>A是已报道的多态。结论本研究发现了具有争议的致病突变109G>A的纯合突变,极可能导致隐性遗传性聋。

Objective To evaluate the mutational analysis of the GJB2 on hereditary deafness. Methods 20 non- syndromic hearing loss （NSHL） cases were performed mutational analysis of the GJB2 coding region by PCR - direct sequencing. Results Three sequence changes were found： 109G 〉 A.79G 〉 A and G341 〉 A. 109G 〉 A had been reported as the mutation which had controversial consequences. We detecte 109G 〉 A in homozygosity in two recessive families and 109G 〉 A was co - separated with the deafness. 79G 〉 A and 341G 〉 A had been reported as polymorphisms. Conclusion We detecte 109G 〉 A in homozygosity which associates with the autosomal recessive nonsyndromic neurosensory deafness.