结节性硬化症的分子遗传学研究进展

结节性硬化症(TSC)是一种多系统疾病,主要的特征是脑、皮肤、眼睛、心、肺、肾等器官出现肿瘤样损害,称为错构瘤.它是一种由基因决定的常染色体显性遗传病,由于TSCI或TSC2基因的突变失活引起.近年来,在结节性硬化症的基因研究方面取得了一定进展,对于TSC1、TSC2基因多态性、基因功能及其产物的相互作用有了更加深入的了解,但是仍需要对这种复杂的疾病进行更深入地研究以降低其发病率和死亡率.概述近年来在结节性硬化症的分子遗传学方面取得的新进展.

Advances in the molecular genetic research of tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a multi-system disease characterized by tumor-like lesions called as hamartoma involving the brain,skin,eyes,heart,lungs,kidneys,etc.It is an autosomal dominant genetic disease due to the mutation and inactivation of TSC1 or TSC2 gene.In recent years,some progress has been made in the genetic research of tuberous sclerosis complex,which has contributed to the understanding of polymorphisms and function of TSC1 and TSC2 genes as well as the interaction between the products of the two genes.However,further researches are warranted for the reduction of incidence and mortality of TSC.This paper focuses on the recent progress in molecular genetics of TSC.