沧州市特教学校极重度感音神经性聋患者基因分析

Analysis of Deafness Gene in Severe-Profound Hearing Loss Patients in Cangzhou

目的调查沧州地区极重度感音神经性耳聋患者耳聋基因突变分子病因学情况。方法对沧州市特教学校241名学生进行聋病病因学问卷调查、纯音听力测试并应用基因芯片技术行耳聋基因检测。结果 241名受试者中有39人检出基因突变,占总人数的16.2%,其中GJB2突变25人,占总人数的10.4%,GJB2235delc纯合突变12人,299del AT纯合突变1人,单杂合突变6人,均为235delc位点突变,复合杂合突变6人;GJB3突变1人,占0.41%;SLC26A4突变14人,占5.8%,3人为IVS7-2A>G纯合突变,10人为ⅣS7-2A>G单杂合突变,1人为复合杂合突变。结论沧州市特教学校极重度感音神经性聋人群存在较高的遗传性耳聋发生率,通过耳聋基因检查,可明确耳聋病因,从而达到防聋及评估耳聋预后等积极效果。

[ Obstract ] Objective To investigate the deafness gene mutations of severe-profound hearing loss in Cangzhou. Methods The hearing loss evaluation, etiologic survey and the molecular genetic analysis of common genes responsible for deafness were performed in 241 hearing impairment students at the special education school in Cangzhou. Results Firstly, 39（16.2%） people were detected to carry deafness genes. Secondly, in the 39 subjects, 25（10.4%）people were found to carry GJB2 mutation. 12 people were detected 235delc homozygous mutation. One person was 299delAT homozygous mutation. 6 ones were detected 235delc single heterozygous mutation and 6 people were compound heterozygous mutation. Thirdly, only one person（0.41%） was found to earry GJ B3 mutation. Finally, there were 14 subjects（5.8%）with SLC26A4 mutation. 3 people were found IV S7-2A〉 G homozygous mutation, 10 people were found IV S7-2A〉 G single heterozygous mutation, and one person was compound heterozygous mut tion. Conclusions The incidence of hereditary deafness is high at the special education school in Cangzhou, and through the deafness gene examination, we can know the causes of deafness to prevent the deafness and to evaluate the prognosis of hearing loss.