Analysis of gene mutations in two patients with tuberous sclerosis complex.
- Author:
Cheng-Da YUAN
1
;
Xiao-Li CHANG
;
Yao-Qun WU
;
Qin LIU
;
Min GAO
;
Feng-Li XIAO
;
Fu-Sheng ZHOU
;
Sen YANG
;
Jian-Jun LIU
;
Xue-Jun ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Genetic Association Studies; Humans; Mutation; Tuberous Sclerosis; genetics; Tumor Suppressor Proteins; genetics
- From: Acta Academiae Medicinae Sinicae 2007;29(2):205-208
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex (TSC).
METHODSAll the coding exons of TSC1 and TSC2 genes of these two patients, unaffected member in the two families, and 100 unrelated population-matched controls were amplified by polymerase chain reaction. The products were analyzed by direct sequencing.
RESULTTwo TSC2 gene mutations (c. 268C > T, c. 5 227C > T) were identified in two patients, but not in their family members and in 100 unrelated population-matched controls.
CONCLUSIONThese two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC.
