title: Three single nucleotide polymorphisms leading to non-synonymous amino acid substitution in the human ribonuclease 2 and angiogenin genes exhibit markedly less genetic heterogeneity in six populations.
abstract: Angiogenin and ribonuclease 2 (RNase 2) are members of the human RNase superfamily. Although three potential single nucleotide polymorphisms (SNPs) in these genes, which could give rise to an amino acid substitution in the protein, have been identified, relevant population data are not available, and accordingly they have not been applied to clinical-genetic analysis. For this purpose, a novel genotyping method for each SNP using the mismatched PCR-restriction fragment length polymorphism technique has been developed. Using this method, the genotype distribution of each SNP was investigated in six populations: Japanese (n = 167), Korean (n = 90), Mongolian (n = 92), Ovambos (n = 86), Turkish (n = 87), and German (n = 70). In all the populations, only one genotype was found in each SNP. Irrespective of differences in ethnic groups, the angiogenin and RNase 2 genes appear to exhibit markedly less genetic heterogeneity with regard to these SNPs.
authors.affiliation: Division of Medical Genetics and Biochemistry, Faculty of Medical Sciences, University of Fukui, Eiheiji-cho, Fukui, Japan.
authors.forename: Misuzu
authors.initials: M
authors.lastname: Ueki
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
authors.forename: Hisakazu
authors.initials: H
authors.lastname: Takatsuka
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.forename: Reiko
authors.initials: R
authors.lastname: Iida
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Yasuda
mesh_terms: D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D004722:Endoribonucleases / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012259:Ribonuclease, Pancreatic / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D004722:Endoribonucleases; C046366:angiogenin; C029494:ribonuclease U; D012259:Ribonuclease, Pancreatic