Single-strand conformation polymorphism analysis on the delta-sarcoglycan gene in Japanese patients with hypertrophic cardiomyopathy.
To elucidate the etiology of hypertrophic cardiomyopathy (HC) in humans, we analyzed the delta-sarcoglycan gene (SG), which is reported to be the causal gene for HC in the Syrian hamster BIO14.6. We performed polymerase chain reaction (PCR) single-strand conformation polymorphism (SSCP) and nucleotide sequence analyses on the delta-SG in 102 patients with HC. SSCP was detected in exon 2 of the gene, but not in the other exons. The direct sequencing analysis of exon 2 revealed a C-->T substitution at nucleotide residue 84 (TAC-->TAT) with no amino acid alteration (Tyr-->Tyr). There were no significant differences in allele frequencies of C/T between the patients with HC and the control group. Patients with HC were classified into 4 subgroups: obstructive HC, nonobstructive HC, apical HC, and familial HC. The allele frequency of C/T polymorphism in each of these groups was compared with that of the control group. The obstructive HC group showed a significantly greater frequency of the allele T than in the control group (31.6% vs 15.1%, RR = 2.6, p = 0.023). No other significant differences were observed. Thus, amino acid alteration in delta-SG may not be a common cause of HC in Japanese patients.
Date
M
M
Department of Medicine and Pathophysiology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Otsu
K
K
Nishida
K
K
Toyofuku
T
T
Matsumura
Y
Y
Morita
T
T
Hirotani
S
S
Okazaki
Y
Y
Hayashizaki
Y
Y
Nigro
V
V
Kuzuya
T
T
Tada
M
M
Hori
M
M
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000818:Animals; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics*; D006224:Cricetinae; D003598:Cytoskeletal Proteins / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008647:Mesocricetus; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D049031:Sarcoglycans; D017422:Sequence Analysis, DNA
D003598:Cytoskeletal Proteins; D017931:DNA Primers; D008562:Membrane Glycoproteins; D049031:Sarcoglycans