4例可变性红斑角化症的基因突变检测

摘要

Objective: To identify mutations in four Chinese patients with erythrokeratodermia variabilis (EKV).Method: Direct sequencing was used to identify mutation in GJB3 and GJB4. Results: A new mutation and a reported mutation had been found in the patients. Conclusion: It is the two missense mutations (c.403C＞ G and c.292C ＞ T) that causes EKV among the three patients.%目的:检测4例可变性红斑角化症患者的基因突变位点.方法:应用DNA直接测序法检测基因的突变.结果:发现1个新的突变位点,1个已报道突变位点.结论:错义突变c.403C＞G和c.292C＞T是导致该3例患者发生可变性红斑角化症的特异突变.