非综合征型聋患者耳聋相关基因检测结果分析

Deafness Gene Mutations Analysis in Cases with Non-syndromic Deafness

目的探讨遗传性耳聋基因芯片用于非综合征型聋患者检测的临床意义。方法采用遗传性聋基因芯片试剂盒对177例非综合征型耳聋患者基因组DNA的GJB2、SLC26A4、GJB3和mtDNA12s rRNA四个耳聋相关基因的9个致聋突变位点进行检测;对部分携带SLC26A4基因突变的患者进行颞骨CT扫描;选取26位听力正常且无耳聋家族史的受检者作为正常对照。结果①在非综合征型耳聋患者中携带耳聋相关基因突变者占49.15%;②11例SLC26A4基因突变携带者颞骨CT均显示前庭水管扩大;③正常对照组隐性突变基因携带率为7.7%。结论遗传因素在非综合征型耳聋的致聋病因中所占的比例较高,大前庭水管综合征患者的SLC26A4基因检测结果与其颞骨影像学检查结果吻合。

Objective To investigate the clinical significance of gene mutations detecting by gene chip in non --syndromic deaf patients. Methods Nine mutations of four genes （GJB2,SLC26A4,GJB3 and mtDNA12s rRNA）, from 177 hearing impaired patients and 26 volunteers with normal hearing, were detected by using Capital Bio Deafness Gene Mutation Detection Array Kit. Some of the SLC26A4 related hearing impaired patients accepted CT examination. Results ①Among the 177 patients with non-syndromic hearing loss, 49.2% patients carried mutations of deafness related genes：GJB2（26.6%）,SLC26A4（19.8%）,mtDNA 12s rRNA （2.3%） and GJB3 （0.6%）, respectively. ②CT scan results showed that SLC26A4 related patients were all with large vestibular aqueduct syndrome. ③The carriers aceouned for 7.7% in the nomal group. Oonclusion ④ Our results indicate that genetic factors account for about 50% in the hearing impaired population. ⑤The genotype and imaging examination are consistent in large vestibular aqueduct syndrome cases.