南通地区遗传性耳聋资源收集及病因学分析

目的 调查江苏南通地区遗传性耳聋病因流行病学情况。方法 调查南通各市县五个聋哑学校202名学生，利用聚合酶链反应一限制性片断长度多态性（PCR—RFLP）方法和Prev—DAF药物性耳聋基因诊断试剂盒筛查患者GJB2 235delC突变和线粒体DNA 12SrRNA A1555G突变。结果 195例非综合征耳聋患儿中31例（15．9％）为GJB2 235delC纯合突变，21例（10.8％）为GJB2 235delC杂合突变，5例（2．6％）存在线粒体DNA 12SrRNA A1555G点突变，在分子水平能够明确诊断者占2913％。结论 南通地区遗传性耳聋发病率较高，尤其是GJB2 235delC突变，突变率（26％）明显高于全国平均水平（18％）。此结果突出了本地区耳聋基因诊断的重要作用，利用耳聋基因检测技术，在人群中（包括重点人群和普通人群）进行生育前耳聋基因筛查，是达到减少聋儿出生的重要途径。

Molecular etiology of patients with non-syndromic hearing loss in Nantong, Jiangsu Province of China

Objective To conduct a survey of the molecular etiologic causes of non-syndromic hearing loss in Nantong,Jiangsu. Methods Two hundred and two children with hearing loss at the Deaf-Mute School in Nantong were investigated with molecular genetic methods. The peripheral blood samples were obtained and DNA templates were extracted by extraction kits. Using polymerase chain reaction (PCR), the code region of GJB2 gene was amplified. The GJB2 235 delC mutation was distinguished by Apa I restricted enzyme digestion method. The Prev-DAF Kit was used to detect mtDNA 12SrRNA A1555G mutation. Results Of 195 patients with non-syndromic hearing impairment five were found to carry mtDNA 12SrRNA A1555G mutation; 31 cases were shown to carry GJB2 235delC homozygous mutation while other 21 cases, to carry GJB2 235delC heterozygous mutation. Conclusions High frequency of GJB2 gene and mtDNA mutations was found in the deaf population in Nantong. Moleuclar genetic screening for these mutations and genetic counseling are effective methods to prevent hereditary hearing loss.