Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins

被引:67
作者
Iida, A
Saito, S
Sekine, A
Mishima, C
Kondo, K
Kitamura, Y
Harigae, S
Osawa, S
Nakamura, Y
机构
[1] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Mol Med Lab,Minato Ku, Tokyo 1088639, Japan
[2] RIKEN SNP Res Ctr, Lab Genotyping, Tokyo, Japan
关键词
single-nucleotide polymorphisms (SNPs); high-density SNP map; nonsynonymous substitutions; insertion-deletion polymorphism; Japanese population; human organic-anion transporter genes; human organic anion-transporting polypeptide genes; NADH : ubiquinone oxidoreductase flavoprotein genes;
D O I
10.1007/s100380170019
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We present here a series of high-density maps of single-nucleotide polymorphisms (SNPs) detected in genes encoding three organic-anion transporters, three organic anion-transporting polypeptides, and three nicotinamide adenine dinucleotide. reduced:ubiquinone oxidoreductase flavoproteins. A total of 258 SNPs were identified among these nine genes through systematic screening of DNA from 48 Japanese individuals: 17 in 5' flanking regions, three in 5' untranslated regions, 13 in coding regions, 211 in introns, six in 3' untranslated regions, and 8 in 3' flanking regions. By comparing our data with SNPs deposited in the dbSNP database in the National Center for Biotechnology Information, we determined that 236 (91.5%) were novel. In addition, 46 genetic variations of other types were discovered within these loci. These high-resolution maps will serve as a useful resource for analyzing potential associations between variations in these nine genes and differences in human susceptibilities to common diseases or response to drug therapies.
引用
收藏
页码:668 / 683
页数:16
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