Biochemical Genetics

, Volume 46, Issue 3–4, pp 145–153 | Cite as

Development of Genotyping Methods for Single Nucleotide Polymorphism in the Human Pancreatic Ribonuclease Gene (RNASE1) and Their Application to Population Studies

  • Misuzu Ueki
  • Reiko Iida
  • Junko Fujihara
  • Haruo TakeshitaEmail author
  • Isao Yuasa
  • Yoshihiko Kominato
  • Toshihiro Yasuda


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.


Pancreatic ribonucleases Single nucleotide polymorphism Population data Genotyping method PCR 



This work was in part supported by Grants-in-Aid from the Japanese Society for the Promotion of Science (17659161 to MU and 17659196 to TY).


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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Misuzu Ueki
    • 1
  • Reiko Iida
    • 2
  • Junko Fujihara
    • 3
  • Haruo Takeshita
    • 3
    Email author
  • Isao Yuasa
    • 4
  • Yoshihiko Kominato
    • 5
  • Toshihiro Yasuda
    • 1
  1. 1.Faculty of Medical Sciences, Division of Medical Genetics and BiochemistryUniversity of FukuiEiheiji-choJapan
  2. 2.Faculty of Medical Sciences Division of Legal MedicineUniversity of FukuiEiheiji-choJapan
  3. 3.Faculty of Medicine, Department of Legal MedicineShimane UniversityIzumoJapan
  4. 4.Department of Legal MedicineTottori University School of MedicineYonagoJapan
  5. 5.Department of Legal MedicineGunma University, Graduate School of MedicineMaebashiJapan

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