大前庭水管综合征SLC26A4基因突变分析

SLC26A4 gene mutation in large vestibular aqueduct syndrome

目的应用耳聋基因芯片对非综合征性感音性神经性耳聋患者进行分子病因学研究。方法采集61例来自太原市聋哑学校的非综合征性耳聋患者的外周血,提取基因组DNA,应用耳聋基因芯片检测中国人中常见的大前庭水管综合征基因(亦称PDS基因或SLC26A4基因)的2个热点突变,包括IVS7-2A>G和2168A>G。结果在61样本中共检出SLC26A4基因突变10例(16%)。其中IVS7-2A>G位点突变9例,2168A>G位点突变1例。结论本实验61例非综合征性耳聋患者SLC26A4基因突变率达到16%,证实了SLC26A4是非综合征性耳聋的易感基因。SLC26A4基因检测可作为重度和极重度非综合征性耳聋患者的临床检查项目。

Objective To investigate the molecular etiology among patients with non-syndromic hearing loss（NSHL） using a deafness gene chip.Methods Peripheral blood samples from 61 NSHL patients from Taiyuan School for the Deaf were collected and extracted from DNA genomes.The deafness gene chip was used to detect the two hot-spot mutations（IVS7-2AG and 2168AG） of the pathogenic gene which are most commonly observed in Chinese patients with large vestibular aqueduct syndrome（also called PDS gene or SLC26A4 gene）.Results Of a total of 61 NSHL patients,10（16%） patients were found SLC26A4 gene mutation.Notably,the mutations were IVS7-2AG in 9 cases,and 2168AG in 1 case.Conclusion In the present study,the rate of SLC26A4 gene mutation was 16% in 61 NSHL patients,suggesting proved that SLC26A4 underlies the susceptibility to NSHL.Therefore,detection of SLC26A4 gene can be used as a clinical test among severe or extremely severe NSHL patients.