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

Citation
A. Iida et al., 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, J HUM GENET, 46(11), 2001, pp. 668-683
Citations number
31
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
1434-5161 → ACNP
Volume
46
Issue
11
Year of publication
2001
Pages
668 - 683
Database
ISI
SICI code
1434-5161(2001)46:11<668:CO2SP(>2.0.ZU;2-U
Abstract
We present here a series of high-density maps of single-nucleotide polymorp hisms (SNPs) detected in genes encoding three organic-anion transporters, t hree organic anion-transporting polypeptides, and three nicotinamide adenin e dinucleotide. reduced:ubiquinone oxidoreductase flavoproteins. A total of 258 SNPs were identified among these nine genes through systematic screeni ng 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' u ntranslated regions, and 8 in 3' flanking regions. By comparing our data wi th SNPs deposited in the dbSNP database in the National Center for Biotechn ology Information, we determined that 236 (91.5%) were novel. In addition, 46 genetic variations of other types were discovered within these loci. The se high-resolution maps will serve as a useful resource for analyzing poten tial associations between variations in these nine genes and differences in human susceptibilities to common diseases or response to drug therapies.