Mutation screening of cardiac myosin binding protein-C3 gene in a Chinese pedigree with familial hypertrophic cardiomyopathy
FENG Jian-zhong
PAN Qi-chuan
WANG Bing
XU Chao
MA Xiu-yun
SUN Xun
PAN Chun-ming
ZHAO Shuang-xia
SU Bin
SONG Huai-dong
Abstract：Objective To identify the disease-causing gene mutation and to investigate the genotype-pheno-type correlation in a Chinese pedigree with familial hypertrophic cardiomyopathy(FHCM).Methods In this study we collected a large multigenerational Chinese family with FHCM.Total genome DNA was extracted from 67 subjects' peripheral leucocytes.The exons and boundary introns of cardiac myosin binding protein-C3 gene were amplified by polymeras chain reation(PCR) and directly sequenced by ABI PRISM 3700 DNA sequencer.The mutation was examined.Results Fourteen family members had hypertrophic cardiomyopathy.Echocardiography showed all living affected individuals had a maximal left ventricular wall thickness of at least 13 mm.Two single nucleotide polymorphisms (SNP) were found and have been reported in NCBI SNP database.No mutation co-seperated with the disease was identified.Conclusions FHCM of this family is not caused by MyBPC3 mutation.Other genes should be screened.
Keywords：CardiomyopathyhypertrophicfamilialBeta myosin heavy chain genesMutation
Publication Date：2012-01-01
Online Publishing Date：2026-09-14(First online date of this platform, not the publication date of the document)