title: Development of genotyping methods for single nucleotide polymorphism in the human pancreatic ribonuclease gene (RNASE1) and their application to population studies.
abstract: Two potential single nucleotide polymorphisms [SNPs; rs1804215 (G979T) and rs11545379 (G1169T)] have been identified in the human pancreatic ribonuclease, RNase 1, gene (RNASE1) that could give rise to an amino acid substitution in the protein, but relevant population data are not available. We have developed genotyping methods for each SNP using the mismatched PCR-restriction fragment length polymorphism technique. These methods are advantageous in comparison with other SNP genotyping methods because they are technically simpler and do not require specialized instruments. We applied these genotyping methods to examine the genotype distribution of each SNP in four populations, including Japanese populations living in two prefectures, an Ovambo population, and a Turkish population. In all the populations studied, however, only a single genotype for each SNP was found. Therefore, irrespective of differences in ethnic groups, RNASE1 might show markedly low heterogeneity in its genetic structure with regard to these SNPs.
authors.affiliation: Faculty of Medical Sciences, Division of Medical Genetics and Biochemistry, University of Fukui, Eiheiji-cho, Fukui, 910-1193, Japan.
authors.forename: Misuzu
authors.initials: M
authors.lastname: Ueki
authors.forename: Reiko
authors.initials: R
authors.lastname: Iida
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Kominato
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Yasuda
mesh_terms: D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012259:Ribonuclease, Pancreatic / Q000235:genetics*
chemical_list: D012259:Ribonuclease, Pancreatic