Novel missense mutation in cardiac β myosin heavy chain gene found in a japanese patient with hypertrophic cardiomyopathy

Hirofumi Nishi, Akinori Kimura, Haruhito Harada, Hironori Toshima, Takehiko Sasazuki

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

We have analyzed the exon 9, 13, 14, 15, and 16 of cardiac β myosin heavy chain gene in 96 Japanese patients with hypertrophic cardiomyopathy by using PCR-DNA conformation polymorphism analysis. The analysis revealed a sequence variation of the exon 16 in one patient. The sequence variation of a G to C transversion with replacement of Asn by Lys at the codon 615 was confirmed by sequencing and by dot-blot hybridization with an allele-specific oligonucleotide probe. Because the missense mutation was found at the residue conserved through birds to humans, this mutation was suggested to be a cause of hypertrophic cardiomyopathy in the patient. This is the first report of a mutant cardiac β myosin heavy chain gene in the Japanese population.

Original languageEnglish
Pages (from-to)379-387
Number of pages9
JournalBiochemical and Biophysical Research Communications
Volume188
Issue number1
DOIs
Publication statusPublished - Oct 15 1992

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

Fingerprint Dive into the research topics of 'Novel missense mutation in cardiac β myosin heavy chain gene found in a japanese patient with hypertrophic cardiomyopathy'. Together they form a unique fingerprint.

Cite this