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

机译:人胰核糖核酸酶基因(RNASE1)单核苷酸多态性基因分型方法的发展及其在人群研究中的应用

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摘要

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.
机译:两个潜在的单核苷酸多态性[SNPs; rs1804215(G979T)和rs11545379(G1169T)]已在人胰腺核糖核酸酶RNase 1基因(RNASE1)中得到鉴定,该基因可能引起蛋白质中的氨基酸取代,但尚无相关人群数据。我们使用错配的PCR-限制性片段长度多态性技术为每个SNP开发了基因分型方法。与其他SNP基因分型方法相比,这些方法具有优势,因为它们在技术上更简单,并且不需要专门的仪器。我们应用这些基因分型方法检查了四个人口中每个SNP的基因型分布,包括居住在两个县的日本人口(一个Ovambo人口和一个土耳其人口)。但是,在所有研究的人群中,每个SNP仅发现一种基因型。因此,无论种族如何差异,RNASE1的遗传结构均可能在这些SNP方面表现出明显的异质性。

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