沧州市特教学校极重度感音神经性聋患者基因分析

发布时间：2019-01-16 01:35

【摘要】：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IVS7-2AG纯合突变,10人为ⅣS7-2AG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。
[Abstract]:Objective to investigate the molecular etiology of deafness gene mutation in patients with very severe sensorineural hearing loss in Cangzhou. Methods A total of 241 students from Cangzhou Special Education School were investigated on the etiology of deafness, pure tone audiometry and gene chip technique were used to detect the deafness gene. Results 39 of 241 subjects (16.2%) were found to have gene mutations, including 25 GJB2 mutations, 12 homozygous mutations of GJB2235delc, 1 homozygous mutation of 299del AT, and 6 single heterozygous mutations. All of them were 235delc locus mutations and 6 were compound heterozygosity mutations. GJB3 mutation was found in 1 person (0.41%) and SLC26A4 mutation (14 cases), accounting for 5.8% of IVS7-2AG homozygous mutation, 10 cases of 鈪，

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