【摘要】 目的 :分析 56例先天性耳聋患儿 Connexin2 6(Cx2 6,GJB2 )基因 2 3 5del C突变。方法 :收集 56例散发的先天性耳聋患儿 ,利用聚合酶链式反应—限制性片段长度多态性 (PCR-RFL P)分析方法 ,筛查患者 Cx2 6基因 2 3 5del C突变。结果 :经 PCR-RFL P分析 ,有 18例患儿 Cx2 6基因存在 2 3 5del C纯合性突变 ,6例患儿存在 2 3 5del C杂合性突变 ,其余患儿及听力正常者无此突变。结论 :Cx2 6基因 2 3 5del C纯合性突变是导致先天性耳聋的原因更多还原

【Abstract】 Objective:To determine the pre valence and characteristics of the 235 de1C mutation in the connexin 26 gene in children with congenital deafness Methods:56 congenital deaf children were obtained, and screened for the 235 delC mutation in the connexin 2 6 gene by polymerase chain reaction (PCR) and restriction endonuclease Results:18 of 56 congenital deaf children were found to have homozygous 235 delC mutation, and 6 of them harbore d heterozygous 235 delC mutation in the connexin 26 gene The 235 delC mutation was not observed in the rest deaf children and the normal controls Conclusion:The homozygou s 235 de1C mutation in connexin 26 gene is the leading cause of congenital deafness更多还原