Evidence of genetic heterogeneity of hypertrophic cardiomyopathy in eight Chinese patients.
BACKGROUND
The genetic basis causing hypertrophic cardiomyopathy (HCM) was found due to missense mutations in cardiac beta-myosin heavy chain (beta-MHC), cardiac troponin T and alpha-tropomyosin genes in certain affected families. However, most mutations and majority of the affected families were reported to be related to beta-MHC gene. Till now, 20 different missense mutations of beta-MHC gene identified in more than 40 independent families were distributed in exons 8, 9, 13, 14, 15, 16, 19, 20, 21 and 23. Therefore, we chose these 10 exons for screening.


METHODS
Eight probands with HCM and 1 normal control were included for screening. 32P-labeled PCR products of these 10 exons of beta-MHC gene were amplified from genomic DNA obtained from peripheral lymphocytes. PCR-DNA single strand conformation polymorphism (PCR-SSCP) analysis was performed using electrophoresis with polyacrylamide gels with and without 10% glycerol. Large amount copies of these 10 exons were also made from genomic DNA with PCR. Detection of sequencing variation of these exons was determined by the direct sequencing method with dideoxy chain termination method and 35S.


RESULTS
No abnormal extra bands were noted on PCR-SSCP analysis. Sequencing analysis showed no missense mutation in these probands.


CONCLUSIONS
Genetic heterogeneity of HCM is evident in Chinese patients with HCM.
Hwang
D S
DS
Department of Medicine, Taichung Veterans General Hospital, Taiwan, R.O.C.
Chen
Y T
YT
Su
J S
JS
Hu
W H
WH
Wang
K Y
KY
Ting
C T
CT
D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013624:Taiwan
D018995:Myosin Heavy Chains