Positional cloning of disease-causing gene in a Chinese pedigrees with familial hypertrophic cardiomyopathy
PAN Qi-chuan
XU Chao
FENG Jian-zhong
TIAN Xiao-ye
PAN Chun-ming
SU Bin
DU Xue
Abstract：Objective To identify the disease-causing gene and to investigate the genotype-phenotype correlation in a Chinese pedigree with familial hypertrophic cardiomyopathy (FHCM).Methods In this study,a fivegeneration family that consisted of 89 individuals with FHCM was identified.Total genome DNA was extracted from 67 subjects' peripheral leucocytes.A genome-wide screening was carried out using micro-satellite markers on ABI PRISM 3700 DNA sequencer.A linkage analysis was performed using the MLINK program.Results Fourteen family members had hypertrophic cardiomyopathy.Analysis by echocardiography showed all living affected individuals had a maximal left-ventricular-wall thickness of at least 13 mm.A two-point LOD score of 3.45 (θ =0.15),suggestive of linkage,was initially obtained with microsatellite marker D1S249.The FHCM causing gene,cardiac troponin T gene was located in this area.Conclusions The disease locus is mapped to chromosome 1 q32 in this family.As one of the aetiological genes for FHCM,it is reasonable to screen for mutations in the cardiac troponin T gene.
Keywords：CardiomyopathyhypertrophicfamilialCardiac troponin T geneGenome-wide screeningLinkage analysis
Publication Date：2013-01-01
Online Publishing Date：2026-09-14(First online date of this platform, not the publication date of the document)
Pages：4( 1527-1530 )