Titin gene mutations in Chinese patients with dilated cardiomyopathy
10.3321/j.issn:0253-3758.2008.12.004
- VernacularTitle:肌联蛋白基因突变与中国人扩张型心肌病
- Author:
Xing LIU
1
;
Li RAO
;
Bin ZHOU
;
Bei-Lei ZHANG
;
Yan-Yun WANG
;
Bin CHEN
;
Yang WU
;
Ping HUANG
Author Information
1. 泸州医学院附属医院
- Keywords:
Cardiomyopathy,dilated;
Genes;
Mutation;
Titin
- From:
Chinese Journal of Cardiology
2008;36(12):1066-1069
- CountryChina
- Language:Chinese
-
Abstract:
Objective Titin is recently known as the largest protein which exists in the stiated muscle sarcomere and is dynamic both in biomechanics properties and biochemical functions.Four possible disease-associated mutations located in three exons(3,14,49)of titin gene(TTN)have been identified in Japanese DCM patients in 2002.We observed the possible association of TTN mutation in Chinese patients with DCM.Methods Three exons of VI"N(3,14,49)were screened in 117 DCM patients and 120 controls by polymerase chain reaction-single strand conformation polymorphisms(PCR-SSCP)and DNA sequence.SSCP Was carried out following a protocol optimized for each PCR fragment after amplification.Abnormal SSCP results were subsequently confirmed by DNA sequencing.Results The mutations reported in Japanese DCM patients were not identified in this patient cohort.A novel mutation[the G13053A(TTN cDNA sequence,X90568)change resulted in amino acid change at position 435 1(Gly435 1 Asp)]was found in two young DCM patients from a DCM family(1.7%).There was no similar mutation in controls.Conclusion This novel Gly4351 Asp mutation in TTN might be associated with DCM.
