[Mutations in beta myosin heavy chain gene: two mutations in Chinese with familial hypertrophic cardiomyopathy and the correlation between the genotype and phenotype].
OBJECTIVE
To study the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and phenotype.


METHODS
Samples of peripheral blood were collected from five Chinese patients with HCM in whose families at least 2 HCM patients existed. The exon in the functional regions of the beta myosin heavy chain gene (beta-MHC) were amplified with PCR and the products were sequenced. The relation between the genotype and phenotype was analyzed.


RESULTS
Two mutations were first identified. Eighty controls were normal in the genetic test.


CONCLUSIONS
beta-MHC may be the main disease-causing gene. Two mutations have different phenotypes. In one family, the identical mutation has different phenotypes and prognoses. The heterogeneity of phenotype suggests that multiple factors be involved in the pathogenesis.
Xie
Wen-li
WL
Department of Cardiology, Second Hospital, Peking University, Beijing 100044, China.
Liu
Wen-ling
WL
Hu
Da-yi
DY
Cui
We
W
Zhu
Tian-gang
TG
Li
Cui-lan
CL
Sun
Yi-hong
YH
Li
Lei
L
Li
Tian-chang
TC
Bian
Hong
H
Tong
Qi-guang
QG
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D024722:Cardiac Myosins; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D002648:Child; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains