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

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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

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Cardiac Myosins
Myosin Heavy Chains
Hypertrophic Cardiomyopathy
Missense Mutation
Exons
Genes
Oligonucleotide Probes
Birds
Polymorphism
Nucleic Acid Conformation
Conformations
Codon
DNA
Alleles
Polymerase Chain Reaction
Mutation
Population

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

Novel missense mutation in cardiac β myosin heavy chain gene found in a japanese patient with hypertrophic cardiomyopathy. / Nishi, Hirofumi; Kimura, Akinori; Harada, Haruhito; Toshima, Hironori; Sasazuki, Takehiko.

In: Biochemical and Biophysical Research Communications, Vol. 188, No. 1, 15.10.1992, p. 379-387.

Research output: Contribution to journalArticle

Nishi, Hirofumi ; Kimura, Akinori ; Harada, Haruhito ; Toshima, Hironori ; Sasazuki, Takehiko. / Novel missense mutation in cardiac β myosin heavy chain gene found in a japanese patient with hypertrophic cardiomyopathy. In: Biochemical and Biophysical Research Communications. 1992 ; Vol. 188, No. 1. pp. 379-387.
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