遗传性耳聋家系的SLC26A4 IVS7-2A>G基因突变分析

SLC26A4 IVS7-2A>G gene mutation in hereditary hearing loss families

目的检测常染色体隐性遗传耳聋家系SLC26A4IVS7-2A>G基因突变情况,寻找耳聋患者的发病原因,为患者提供遗传咨询。方法收集耳聋家系及散发病例的临床资料,对患者进行纯音电测听检查;应用聚合酶链反应(polymerase chain reaction,PCR)和直接测序法,对2个家系的7名患者和35名散发病例进行SLC26A4exon7+exon8基因突变检测。结果2个家系中发现SLC26A4IVS7-2A>G突变,其中1个家系发生SLC26A4IVS7-2A>G杂合性突变;1个系发生SLC26A4IVS7-2A>G纯合性突变,该突变患者为极重度感音神经性耳聋。另外,在35名散发病例中发现1例携带IVS7-2A>G杂合性突变。结论SLC26A4IVS7-2A>G纯合性突变为致病突变。该位点具有较高的突变率,是导致常染色体隐性遗传的常见病因之一。

Objective To detect the SLC26A4 IVS7-2A〉G gene mutation in families with autosomal recessive hearing loss, for the purpose of understanding etiology of hearing loss and providing appropriate genetic counseling. Methods Clinical data of 2 families and 35 sporadic cases were collected. Pure tone audiomctry was performed in the patients. The SLC26A4 exon7＋exon8 were amplified by polymerase chain reaction （PCR） in the patients and selected family members and then subjected to automatic DNA sequencing. Results SLC26A4 IVS7-2A〉G gene mutation was detected in both families, SLC26A4 IVS7-2A〉G heterozygous mutation in one family and SLC26A4 IVS7-2A 〉G homozygous mutation in the other family. Conclusion SLC26A 4 IVS7-2A〉G homozygous mutation causes hearing loss. This mutation is one of the most common mutations underlying hearing loss.