title: Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.
abstract: We have analyzed the exon 9, 13, 14, 15, and 16 of cardiac beta 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 beta myosin heavy chain gene in the Japanese population.
authors.affiliation: Department of Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nishi
authors.forename: A
authors.initials: A
authors.lastname: Kimura
authors.forename: H
authors.initials: H
authors.lastname: Harada
authors.forename: H
authors.initials: H
authors.lastname: Toshima
authors.forename: T
authors.initials: T
authors.lastname: Sasazuki
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D003062:Codon; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009206:Myocardium / Q000378:metabolism*; D009218:Myosins / Q000235:genetics*; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid
chemical_list: D003062:Codon; D009838:Oligodeoxyribonucleotides; D004247:DNA; D009218:Myosins