南通地区150例重度-极重度耳聋患者常见致聋基因突变分析

The molecular epidemiology analysis of heavy-profound hearing loss in Nangtong

目的:研究南通地区感音神经性聋人群的病因学特点,明确该地区耳聋人群的常见致病基因,探讨遗传因素在耳聋致病因素中的比例。方法:对南通地区3所聋哑学校150例重度-极重度感音神经性聋学生进行GJB2、GJB3、SLC26A4、mtDNA12SrRNA和tRNASer(UCN)序列分析,并对携带SLC26A4突变的个体进行颞骨CT检查。结合耳聋病史、家族史、氨基糖甙类药物应用史以及基因筛查结果分析耳聋学生的病因。结果:29例(19.33%)耳聋学生的病因是GJB2突变;通过SLC26A4序列分析结合内耳影像学检查,19例(12.67%)耳聋学生明确为前庭水管扩大;4例(2.67%)耳聋学生的病因是与药物性聋相关的线粒体基因1555A>G发生突变。另有27例(18%)耳聋学生的病因可能与遗传因素有关。结论:通过较为详细的常见耳聋基因筛查发现遗传性聋在聋人群体中占有较大比例,揭示了耳聋基因诊断在明确耳聋病因方面的优势和意义。

Objective：To investigate the etiology of deafness and the common disease-causing genes among patients with sensorineural hearing loss in Nangtong and to explore the proportion of genetic factors in this region.Method：One hundred and fifty cases with hearing loss from three schools for deaf-mutes in Nangtong received sequence analysis of GJB2,GJB3,SLC26A4,mtDNA12SrRNA and mtDNA tRNASer（UCN）,and individuals carrying SLC26A4 mutation were given further temporal bone CT scan.We investigated the etiology of deafness by analyzing the genes testing results and questionnaires.Result：GJB2 mutations were responsible for approximately 19.33% of the cases in Nangtong area.Nineteen cases（12.67%） were diagnosed with EVA（enlarged vestibular aqueduct）by screening SLC26A4 followed by temporal bone CT scan.The aminoglycoside-related mtDNA 1555A＆gt;G mutation accounted for 2.67%（4/150）of the cases in this area.In addition,27 cases（18%） may relate to genetic factors in this group.Conclusion：By genetic screening we find that genetic deafness occupies a large proportion in deaf community.Our data demonstrate that gene testing has important role in clarifying etiology for hearing loss population.