title: Allele frequencies of single nucleotide polymorphisms in the second exon of the myoglobin gene among the Japanese.
abstract: The difference in the allele frequencies of two single nucleotide polymorphisms (SNPs) in the second exon of the myoglobin gene between Japanese and other populations is reported. These SNPs are the substitutions of (A79G) and (T109C), and they were investigated by a single polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis followed by direct sequencing. The substitutions were always linked and two alleles were found in the samples used: the A-T allele with no substitution at positions (79A) and (109T) and the G-C allele with substitutions of (79G) and (109C). The frequencies of these alleles were 0.755 and 0.245, respectively, and they were found to be in Hardy-Weinberg equilibrium. The distribution of alleles in the Japanese population was significantly different from that reported among whites, blacks, and Hispanics (p < 0.0001).
authors.affiliation: Department of Legal Medicine, Okayama University Graduate School of Medicine and Dentistry, Japan.
authors.forename: Tomoyo
authors.initials: T
authors.lastname: Takata
authors.forename: Satoru
authors.initials: S
authors.lastname: Miyaishi
authors.forename: Yuji
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Sachiyo
authors.initials: S
authors.lastname: Inagaki
authors.forename: Kei
authors.initials: K
authors.lastname: Yoshitome
authors.forename: Takaki
authors.initials: T
authors.lastname: Ishikawa
authors.forename: Hideo
authors.initials: H
authors.lastname: Ishizu
mesh_terms: D000483:Alleles; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D009211:Myoglobin / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics
chemical_list: D009211:Myoglobin