Development of Genotyping Methods for Single Nucleotide Polymorphism in the Human Pancreatic Ribonuclease Gene (RNASE1) and Their Application to Population Studies
Development of Genotyping Methods for Single Nucleotide Polymorphism in the Human Pancreatic Ribonuclease Gene (RNASE1) and Their Application to Population Studies
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DOI：
10.1007/s10528-007-9138-2
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发表时间：
2008-01
影响因子：
2.4
通讯作者：
M. Ueki;R. Iida;J. Fujihara;H. Takeshita;I. Yuasa;Y. Kominato;T. Yasuda
中科院分区：
文献类型：
--
作者：
M. Ueki;R. Iida;J. Fujihara;H. Takeshita;I. Yuasa;Y. Kominato;T. Yasuda
在人胰腺核糖核酸酶RNase1基因(RNase 1)中发现了两个潜在的单核苷酸多态[SNPs；rs1804215(G979T)和rs11545379(G1169T)]，可能导致蛋白质中的氨基酸替换，但相关的人群数据尚不清楚。我们利用错配的聚合酶链式反应-限制性片段长度多态性技术开发了每个SNP的基因分型方法。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，不需要专门的仪器。我们应用这些基因分型方法检查了每个SNP在四个群体中的基因分布，包括居住在两个县的日本人，一个Ovambo人和一个土耳其人。然而，在所有被研究的人群中，每个SNP只有一个单一的基因型。因此，不考虑种族差异，RNASE 1可能在这些SNPs的遗传结构上表现出明显的低异质性。
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,RNASE1might show markedly low heterogeneity in its genetic structure with regard to these SNPs.