论文部分内容阅读
目的进行山西省大同地区重度耳聋的分子流行病学调查。方法对山西省大同市特殊教育学校152 名耳聋学生进行遗传性耳聋问卷调查、全面的体格检查、耳鼻咽喉专科检查以及包括纯音测听和声导抗在内的听力学评估。对148名非综合征型感音神经性耳聋患者分别进行线粒体DNA 12SrRNA基因A1555G点突变和GJB2基因235delC突变的限制性内切酶分析。结果 3例(2．03％)存在线粒体DNA 12SrRNA基因A1555G点突变,16例 (10．81％)存在GJB2基因235delC纯合突变,21例(14．19％)存在GJB2基因235delC杂合突变,能够明确进行基因诊断者占27．03％。结论山西省大同地区非综合征型耳聋患者存在较高的GJB2基因235delC突变发生率,而线粒体DNA 12SrRNA基因A1555G突变发生率低于全国平均水平。通过聋病分子流行病学调查,提示27．03％的非综合征型耳聋患者具有明确或强烈的遗传倾向,对于大同地区耳聋的预防、治疗及康复有着较好的意义。
Objective To investigate the molecular epidemiology of severe deafness in Datong, Shanxi Province. Methods A total of 152 students with deafness in Datong Special Education School of Shanxi Province were investigated with hereditary deafness questionnaires, comprehensive physical examination, special examination of otolaryngology and audiology assessment including pure tone audiometry and acoustic guidance. 148 patients with non-syndromic sensorineural deafness were subjected to restriction endonuclease analysis of mitochondrial DNA 12SrRNA gene A1555G point mutation and GJB2 gene 235delC mutation. Results The mitochondrial DNA 12SrRNA gene A1555G point mutation was found in 3 cases (2.03%). 235delC homozygous mutation of GJB2 gene was found in 16 cases (10.81%), 235delC heterozygous mutation in GJB2 gene in 21 cases (14.19% 27.03% were able to clear the gene diagnosis. Conclusion The incidence of 235delC mutation in GJB2 gene is high in patients with non-syndromic deafness in Datong of Shanxi Province, while the incidence of A1555G mutation in mitochondrial DNA 12SrRNA gene is lower than the national average. The molecular epidemiological investigation of deafness suggests that 27.03% of patients with nonsyndromic deafness have a clear or strong genetic predisposition, which is of great significance for the prevention, treatment and rehabilitation of deafness in Datong.