Brief Communication Allele Frequencies of Single Nucleotide Polymorphisms in the Second Exon of the Myoglobin Gene among the Japanese

1 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 substi- tution 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, re- spectively, 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). The human myoglobin gene contains three exons. Single nucleotide polymor- phisms (SNPs) without amino acid changes at positions 79 and 109 in its second exon have been registered (rs7293 and rs7292; NCBI SNP ID, http://www.ncbi. nlm.nih.gov/dbSNP). Fernandez et al. (1997) analyzed these two SNPs using a different polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis for each SNP and reported the allele frequencies among whites, blacks, and Hispanics. In this study, we developed a method for the si- multaneous detection of these SNPs using a single PCR-SSCP analysis and then investigated the allele frequencies in a Japanese population.