A rapid and effective method to detect mosaic mutation

• 作 者: Yi-WuSHI;LiCHEN;Wei-YiDENG;Mei-MeiGAO;Mei-JuanYU;Wei-PingLIAO;
• 机 构: Institute of Neuroscience and the Second Affiliated Hospital, Guangzhou Medical College, Guangzhou 5
• 出 处: 中国神经科学学会第四次会员代表大会暨第七届全国学术会议(The 7th Biennial Meeting and the
• 发表日期: 2007年期

　　Objective More than one hundred mutations of SCN1A have been reported in patients with febrile seizure plus (FS+) and most of them were de novo mutation.It is possible that some of the de novo mutations derive from parents with small amount mutation of SCN1A,namely mosaic mutation.These parents might have mildly symptomatic or asymptomatic clinical features.A mosaic mutation is easily missed by the routine and rapid detection technique such as RFLP,SSCP and direct-sequencing.So it will increase the ratio of de novo mutation and underestimate the genetic risk.To date,only two mosaic mutations have been reported by real time PCR.Real time PCR is a time-consuming method and reqired strict reaction conditions.So a rapid and effective method to test mosaic mutation was necessary in clinic and genetic counseling.