Article

Allele frequencies of single nucleotide polymorphisms in the second exon of the myoglobin gene among the Japanese.

Department of Legal Medicine, Okayama University Graduate School of Medicine and Dentistry, Japan.
Human Biology (impact factor: 1.31). 04/2002; 74(2):317-20. pp.317-20
Source: PubMed

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).

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Keywords

A-T allele
 
allele frequencies
 
alleles
 
direct sequencing
 
G-C allele
 
Japanese population
 
myoglobin gene
 
populations
 
second exon
 
single nucleotide polymorphisms
 
single polymerase chain reaction-single strand conformation polymorphism
 
whites
 

Tomoyo Takata