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Single-strand conformation polymorphism analysis on the delta-sarcoglycan gene in Japanese patients with hypertrophic cardiomyopathy.
- Source :
-
American Journal of Cardiology . 06/01/2000, Vol. 85 Issue 11, p1315-1318. 4p. - Publication Year :
- 2000
-
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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *ALLELES
*ANIMAL experimentation
*COMPARATIVE studies
*CYTOSKELETAL proteins
*DISEASE susceptibility
*DNA probes
*DOCUMENTATION
*GENES
*GENETIC polymorphisms
*HAMSTERS
*CARDIAC hypertrophy
*RESEARCH methodology
*MEDICAL cooperation
*POLYMERASE chain reaction
*RESEARCH
*RODENTS
*EVALUATION research
*MEMBRANE glycoproteins
*SEQUENCE analysis
Subjects
Details
- Language :
- English
- ISSN :
- 00029149
- Volume :
- 85
- Issue :
- 11
- Database :
- Academic Search Index
- Journal :
- American Journal of Cardiology
- Publication Type :
- Academic Journal
- Accession number :
- 137859308
- Full Text :
- https://doi.org/10.1016/s0002-9149(00)00762-1