Development of Genotyping Methods for Single Nucleotide Polymorphism in the Human Pancreatic Ribonuclease Gene (RNASE1) and Their Application to Population Studies
- 87 Downloads
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.
KeywordsPancreatic 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).
- Beintema JJ, Kleineidam RG (1998) The ribonucleases a superfamily: general discussion. Cell Mol Life Sci 54:825–832Google Scholar
- Cuchillo CM, Vilanova M, Nogués MV (1997) Pancreatic ribonucleases. In: D’Alessio G, Riordan JF (eds) Ribonucleases structures and functions. Academic Press, New York, pp 271–304Google Scholar
- Vogel F, Motulsky AG (1997) Human genetics. Problems and Approaches, 3rd edn., Springer-Verlag, Berlin Google Scholar
- Yang D, Chen Q, Rosenberg EF, Rybak SM, Newton DL, Wang AY, Fu Q, Tchnernev VT, Wang M, Schweitzer B, Kingsmore SF, Patel DD, Oppenheim JJ, Howard OMZ (2004) Human ribonucleases a superfamily members, eosinophil-derived neurotoxin and pancreatic ribonucleases, induce dendritic cell maturation and activation. J Immunol 173:6134–6142PubMedGoogle Scholar
- Yasuda T, Nadano D, Takeshita H, Kishi K (1994) Two distinct secretory ribonucleases from human cerebrum: purification, characterization and relationships to other ribonucleases. Biochem J 296:617–625Google Scholar