非综合征型感音神经性聋患儿GJB2基因突变分析

Mutation Analysis of GJB2 Gene in Children with Non-syndrome type Neurosensory Deafness

目的:对非综合征型感音神经性聋患儿的耳聋基因突变进行具体分析,研究GJB2基因突变与相应的特异性临床表现,为耳聋患者的遗传咨询、产前诊断以及临床治疗提供理论基础。方法:收集深圳地区遗传性非综合征耳聋患者100例和健康对照组50例,应用聚合酶链反应和直接测序法,检测GJB2基因的突变情况。结果:通过基因对照,发现100例耳聋患者中共检出携带GJB2 235del C点突变56例,占56%。其中,26例为纯合性突变,30例为杂合性突变。结论:GJB2基因突变是非综合征型感音神经性聋人群重要的分子病因之一,GJB2基因最为常见的突变类型是235del C,对GJB2基因进行临床检测具有重大意义。

Objective：To analyze GJB2 gene mutations in patients with non-syndrome children with neurosensory deafness,and ravel specific clinical manifestations of deafness gene and corresponding and provide a theoretical basis for genetic counseling,prenatal diagnosis and clinical treatment.Method：GJB2 gene was detected by polymerase chain reaction and direct sequencing of 50 patients with hereditary non syndrome deafness in Shenzhen and 100 healthy controls.Result：The 100 patients with 235 del C GJB2 point mutations were detected by polymerase chain reaction and direct sequencing in 56 patients.Among them,26 cases were homozygous mutation,and 30 cases were heterozygous mutation.Conclusion：GJB2 gene mutation is one of the most important molecular causes of non syndrome children with nervous deafness,and the most common mutation type of GJB2 gene is 235 del C,and itis of great significance for clinical detection of GJB2 gene.