Analysis of TSC2 gene mutational in tuberous sclerosis complex
- VernacularTitle:结节性硬化症TSC2基因突变的分析
- Author:
Yuwu ZHAO
;
Xiaojiang SUN
;
Huimin ZHENG
- Publication Type:Journal Article
- Keywords:
tuberous sclerosis complex;
TSC2 gene;
gene mutation
- From:
Journal of Clinical Neurology
1993;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyse the mutation of pathogenic gene TSC2 in tuberous sclerosis complex (TSC). Methods Using polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP), all the 41 exons of TSC2 gene were analyzed in 4 TSC cases(include 1 suspect case) from one family and 1 sporadic TSC case ,and compared with the kin familial controls and kinless normal controls. Results Missense mutation on exon33 1346S→P (4037T→C) of TSC2 was found in 4 familial cases, and no mutation of TSC2 gene was found in the sporadic case and all the health controls. Conclusion Missense mutation on exon33 (1346S→P,4037T→C)is a new discovery in TSC2 gene of patients with TSC.
