Novel mutations of cardiac troponin T in Chinese patients with hypertrophic cardiomyopathy
10.3760/cma.j.issn.0253-3758.2011.10.008
- VernacularTitle:肥厚型心肌病患者心脏肌钙蛋白T基因变异及其相关临床表型分析
- Author:
Jie YANG
1
;
Wen-Ling LIU
;
Da-Yi HU
;
Tian-Gang ZHU
;
Song-Na YANG
;
Cui-Lan LI
;
Lei LI
;
Yi-Hong SUN
;
Wen-Li XIE
;
Jin-Gang YANG
;
Tian-Chang LI
;
Hong BIAN
;
Qi-Guang TONG
;
Jie XIAO
Author Information
1. 北京大学人民医院
- Keywords:
Cardiomyopathy,hypertrophic;
Troponin T;
Mutation;
Polymorphism,genetic
- From:
Chinese Journal of Cardiology
2011;39(10):909-914
- CountryChina
- Language:Chinese
-
Abstract:
Objective To screen the cardiac troponin T (TNNT2) mutations in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the potential link between the genotype and the phenotype.Methods Clinical features of 100 probands with HCM and some family members were evaluated,200 unrelated normal subjects served as control.The exons and flanking introns of TNNT2 were amplified with PCR and direct sequencing was used to screen TNNT2 mutations/ polymorphisms.Results Two novel missense mutations were detected in 2 HCM patients:R92W and R286H.These 2 mutations were not found in 200 non-HCM controls.A five-basepair insertion/deletion polymorphism in intron 3 of TNNT2 was identified in this HCM cohort but was not related to the phenotype.Conclusions Two missense mutations,R92W and R286H,were found in 2/100 patients with HCM,TNNT 2 mutation is relatively low in Chinese patients with HCM.
