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Titolo:
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
Autore:
Iida, A; Saito, S; Sekine, A; Mishima, C; Kondo, K; Kitamura, Y; Harigae, S; Osawa, S; Nakamura, Y;
Indirizzi:
Univ Tokyo, Inst Med Sci, Ctr Human Genome, Mol Med Lab,Minato Ku, Tokyo 1088639, Japan Univ Tokyo Tokyo Japan 1088639 l Med Lab,Minato Ku, Tokyo 1088639, Japan RIKEN SNP Res Ctr, Lab Genotyping, Tokyo, Japan RIKEN SNP Res Ctr Tokyo Japan SNP Res Ctr, Lab Genotyping, Tokyo, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 11, volume: 46, anno: 2001,
pagine: 668 - 683
SICI:
1434-5161(2001)46:11<668:CO2SP(>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL COMPLEX-I; HUMAN LIVER; FUNCTIONAL-CHARACTERIZATION; MOLECULAR-CLONING; 51-KDA SUBUNIT; IDENTIFICATION; FAMILY; LOCALIZATION; DISEASE; NDUFV1;
Keywords:
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;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Nakamura, Y Univ Tokyo, Inst Med Sci, Ctr Human Genome, Mol Med Lab,MinatoKu, 4-6-1 Shirokanedai, Tokyo 1088639, Japan Univ Tokyo 4-6-1 ShirokanedaiTokyo Japan 1088639 8639, Japan
Citazione:
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

Abstract

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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 02:56:06