Single-strand conformation polymorphism analysis on the δ-sarcoglycan gene in Japanese patients with hypertrophic cardiomyopathy - 06/09/11

Doi : 10.1016/S0002-9149(00)00762-1

Moto-o Date, MD ^a, Kinya Otsu, MD, PhD ^a,⁎, Kazuhiko Nishida, MD, PhD ^b, Toshihiko Toyofuku, MD, PhD ^a, Yasushi Matsumura, MD, PhD, Takashi Morita, MD ^a, Shinichi Hirotani, MD ^a, Yasushi Okazaki, MD, PhD ^c, Yoshihide Hayashizaki, MD, PhD ^c, Vincenzo Nigro, MD ^d, Tsunehiko Kuzuya, MD, PhD ^a, Michihiko Tada, MD, PhD ^a, Masatsugu Hori, MD, PhD ^b
^a Department of Medicine and Pathophysiology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
^b Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
^c Genome Science Laboratory, Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), Tsukuba, Ibaraki, Japan
^d Istituto di Patologia Generale ed Oncologia, Seconda Universita’ degli Studi di Napoli, Napoli, Italy

^*Address for reprints: Kinya Otsu, MD, Department of Internal Medicine and Therapeutics (A8), Osaka University Graduate School of Medicine, 2–2 Yamadaoka, Suita, Osaka 565–0871, Japan

Abstract

To elucidate the etiology of hypertrophic cardiomyopathy (HC) in humans, we analyzed the δ-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 δ-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 δ-SG may not be a common cause of HC in Japanese patients.

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Plan

Methods

Subjects

Single-strand conformation polymorphism (SSCP) analysis

Sequence analysis on δ-SG gene

The allele frequencies of C84T polymorphism in HC patients

Discussion

This study was supported in part by grants-in-aid from the Ministry of Education, Culture and Science, Tokyo (K. Otsu and M. Tada), and a research grant from the Ministry of Health and Welfare (M. Hori), Tokyo, Japan.

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Vol 85 - N° 11

P. 1315-1318 - juin 2000 Retour au numéro

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Single-strand conformation polymorphism analysis on the δ-sarcoglycan gene in Japanese patients with hypertrophic cardiomyopathy - 06/09/11

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