安阳市特教学校重度感音性聋分子病因学分析——GJB2 235delC突变和线粒体DNA 12SrRNA A1555G突变筛查报告

Molecular genetic analysis of GJB2 gene and mtDNA 12SrRNA A1555G mutations in severe-profound hearing loss patients in Anyang, Henan Province of China

目的调查河南省安阳地区重度感音神经性耳聋聋病分子病因学情况。方法对安阳市聋哑学校160 名学生进行耳聋病因问卷调查、纯音听阈测试,对其中154名非综合征性感音神经性耳聋患者进行线粒体DNA 12SrDNA A1555G点突变检测和GJB2基因突变检测。结果 8例(5．19％)存在线粒体DNA 12SrDNA A1555G点突变;11例(7．14％)存在GJB2 235delc纯合突变;13例(8．44％)存在GJB2 235delC杂合突变,在分子水平能够明确诊断者占20．77％。结论安阳地区耳聋患者存在较高的遗传性耳聋发生率,特别是线粒体DNA A1555G突变发生率高于全国平均水平,通过聋病分子诊断,可达到防聋、指导聋儿康复及评估耳聋预后等积极效果。

Objective To conduct a survey of the etiologic causes of severe-profound hearing loss in Anyang, Henan, Methods The hearing loss evaluation, etiologic survey and the molecular genetic analysis of common genes responsible for deafness were performed in 154 nonsyndromic hearing impairment students at Anyang Deaf School. Results Of 154 patients with nonsyndromic heating impairment （NSHI） eight （5.19%） were found to carry the mtDNA A1555G mutation; 11 cases（7.14%） were shown to carry the GJB2 235delC homozygous mutation and 13 cases （8.44%）, to carry the GJB2 235delC heterozygous mutation. Condusions There are a high frequency of mitochondrial DNA and GJB2 gene mutations among patients with NSHI in Anyang, Henan. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.