天门市特殊教育学校聋哑学生耳聋相关基因检测结果分析

Deafness Gene Mutation Analysis of Students with Profound Hearing Loss in a Special Education School in Tianmen

目的对湖北省天门市特殊教育学校聋哑学生进行耳聋分子流行病学调查,了解其耳聋的常见分子遗传学病因。方法对湖北省天门市特殊教育学校52例5～16岁的聋哑学生进行遗传性聋问卷调查、全面体格检查、耳鼻咽喉专科检查及听力学评估,对每例对象采取外周血,提取DNA,采用多重等位基因特异性PCR通用芯片(allele-specific PCR-based universal array,ASPUA)筛查GJB2、SLC26A4、GJB3和mtDNAl2SrRNA四个耳聋相关基因的9个致聋突变位点;对携带SLC26A4基因突变的对象进行颞骨CT扫描。结果 52例聋哑学生均为非综合征型聋,共检出4种耳聋相关基因突变者25例(48.08%,25/52),其中检出GJB2基因突变者12例(23.08%,12/52),未检出GJB3基因突变者,SLC26A4基因突变者9例(17.30%,9/52),线粒体DNA12SrRNA基因突变者4例(7.69%,4/52)。9例携带SLC26A4基因突变者颞骨CT扫描均显示前庭水管扩大。结论 GJB2基因突变是天门市特殊教育学校耳聋群体中遗传性聋的常见致聋基因,其次为SLC26A4和线粒体DNA12SrRNA基因突变,大前庭水管综合征的发病与SLC26A4基因突变有关。

Objective To investigate the molecular etiology characteristics of students with hearing loss from Tianmen, Hubei province. Methods Fifty-two deaf students ,5～16 years old from Tianmen special schools were given the hereditary deafness questionnaire survey,as a comprehensive physical examination, ENT specialist exami nation and audiological evaluation. Their peripheral blood was collected, then DNA was extracted, and the four deafness-related genes cluding GJB2, SLC26A4, GJB3 and mtDNAI2SrRNA were detected in 9 - induced deafness mutations sites using a multiplex allele-specific PCR universal chip. These students carrying the SLC26A4 gene mutations were further suggested to take a temporal bone CT scan. Results All fifty-two participating students were diagnosed with non- syndromic hearing impairment, 12 students （23.08%） of them were shown GJB2 muta tion, 9 with SLC26A4 mutation, and 4 with mtDNA12SrRNA mutation. However, GJB3 mutation was not detected in any of them. And 9 students carrying SLC26A4 gene mutations were showed enlarged vestibular aqueduct by temporal bone CT scan. Conclusion The proportion of hereditary deafness of the Tianmen special education school deaf students is as high as 48.08% ,and SLC26A4 mutation is the most common cause of the hereditary deafness in the population, which followed by GJB2 and mtDNA12SrRNA mutation.