2011•International Journal of Dermatology and VenereologyRequires access
Advances in the molecular genetic research of tuberous sclerosis complex
Mengguo Liu, Xinfen Sun, Wenwen Fu
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Abstract
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.
Key words:
Tuberous sclerosis; Molecular biology; Genes; Mutation