嵌合突变在遗传性皮肤病中的研究进展

Advances on Mosaicism in Genodermatoses

嵌合突变是指同一个体具有不同基因型的情况,包括体细胞嵌合、生殖细胞嵌合以及体细胞生殖细胞嵌合三种模式。近年来,单基因遗传性皮肤病中嵌合突变现象逐渐增多,其临床表现多样且隐匿,与胚系突变有很大不同,临床上较难识别,容易造成误诊和漏诊。本文概述了单基因遗传性皮肤病中的嵌合突变现象及诊断、检测方法,以期更好地进行遗传咨询、产前诊断和遗传诊断。

Mosaicism refers to the situation that the same individual has different genotypes.Somatic mosaicism,gonodal mosaicism and gonosomal mosaicism are the most common categories.In recent years,the incidence of mosaicism has gradually increased.Its clinical manifestations are diverse and hidden,which are very different from germline mutation.It is difficult to identify clinically and easy to misdiagnose and missed diagnosis.This paper provides an overview of mosaicism in genodermatoses,and describes the techniques currently employed for diagnostic and causative mutations identification,in order to help patients better in genetic counseling,prenatal diagnosis and genetic diagnosis.