CAJ | 학술논문

目的检测常染色体隐性遗传耳聋家系SLC26A4 IVS7-2A>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SLC26A4 exon 7+exon 8基因突变检测.结果 2个家系中发现SLC26A4 IVS7-2A>G突变,其中1个家系发生SLC26A4 IVS7-2A>G杂合性突变;1个系发生SLC26A4 IVS7-2A>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 SLC26A4 IVS7-2A>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.
목적 검측상염색체은성유전이롱가계SLC26A4 IVS7-2A>G기인돌변정황,심조이롱환자적발병원인,위환자제공유전자순.방법 수집이롱가계급산발병례적림상자료,대환자진행순음전측은검사;응용취합매련반응(polymerase chain reaction,PCR)화직접측서법,대2개가계적7명환자화35명산발병례진행SLC26A4 exon 7+exon 8기인돌변검측.결과 2개가계중발현SLC26A4 IVS7-2A>G돌변,기중1개가계발생SLC26A4 IVS7-2A>G잡합성돌변;1개계발생SLC26A4 IVS7-2A>G순합성돌변,해돌변환자위겁중도감음신경성이롱.령외,재35명산발병례중발현1례휴대IVS7-2A>G잡합성돌변.결론 SLC26A4 IVS7-2A>G순합성돌변위치병돌변.해위점구유교고적돌변솔.시도치상염색체은성유전적상견병인지일.
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 audiometry 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 SLC26A4 IVS7-2A>G homozygous mutation causes hearing loss. This mutation is one of the most common mutations underlying hearing loss.