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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 investigate the molecular etiology of severe sensorineural hearing loss and deafness in Anyang, Henan Province. Methods A total of 160 students of deaf-mute school in Anyang City were investigated for the cause of deafness and pure tone threshold test. The mitochondrial 12S rDNA A1555G point mutation and GJB2 gene mutation were detected in 154 non-syndromic neurosensory deafness patients. Results The mitochondrial 12S rDNA A1555G point mutation existed in 8 cases (5.19%). The homozygous GJB2 235delc mutation in 11 cases (7.14%) and the GJB2 235delC heterozygous mutation in 13 cases (8.44% Able to diagnose who accounted for 20.77%. Conclusion There is a high incidence of hereditary deafness in Anyang area. Especially, the incidence of mitochondrial DNA A1555G mutation is higher than the national average level. Through the molecular diagnosis of deafness, positive deafness can be achieved, the rehabilitation of deaf children can be guided, and the prognosis of deafness can be achieved. effect.