1. Single-strand conformation polymorphism analysis on the delta-sarcoglycan gene in Japanese patients with hypertrophic cardiomyopathy.
- Author
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Date M, Otsu K, Nishida K, Toyofuku T, Matsumura Y, Morita T, Hirotani S, Okazaki Y, Hayashizaki Y, Nigro V, Kuzuya T, Tada M, and Hori M
- Subjects
- Adult, Aged, Aged, 80 and over, Alleles, Animals, Cardiomyopathy, Hypertrophic diagnosis, Cricetinae, DNA Primers genetics, Exons genetics, Female, Gene Frequency genetics, Genetic Predisposition to Disease genetics, Humans, Japan, Male, Mesocricetus, Middle Aged, Molecular Sequence Data, Polymerase Chain Reaction, Sarcoglycans, Sequence Analysis, DNA, Cardiomyopathy, Hypertrophic genetics, Cytoskeletal Proteins genetics, Membrane Glycoproteins genetics, Polymorphism, Single-Stranded Conformational
- Abstract
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.
- Published
- 2000
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