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Titolo:
Catalog of 46 single-nucleotide polymorphisms (SNPs) in the microsomal glutathione S-transferase 1 (MGST1) gene
Autore:
Iida, A; Saito, S; Sekine, A; Harigae, S; Osawa, S; Mishima, C; Kondo, K; Kitamura, Y; Nakamura, Y;
Indirizzi:
Univ Tokyo, Inst Med Sci, Ctr Human Genome, Lab Mol Med,Minato Ku, Tokyo 1088639, Japan Univ Tokyo Tokyo Japan 1088639 b Mol Med,Minato Ku, Tokyo 1088639, Japan RIKEN, SNP Res Ctr, Lab Genotyping, Tokyo, Japan RIKEN Tokyo JapanRIKEN, SNP Res Ctr, Lab Genotyping, Tokyo, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 10, volume: 46, anno: 2001,
pagine: 590 - 594
SICI:
1434-5161(2001)46:10<590:CO4SP(>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
MEMBRANE-ASSOCIATED PROTEINS; STRUCTURAL ORGANIZATION; RAT; IDENTIFICATION; SUPERFAMILY; EXPRESSION; METABOLISM; LIVER; MAPEG;
Keywords:
single-nucleotide polymorphisms (SNPs); highly dense SNP map; microsomal glutathione S-transferase 1 (MGST1) MAPEG family; insertion-deletion; polymorphisms; Japanese population;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Nakamura, Y Univ Tokyo, Inst Med Sci, Ctr Human Genome, Lab Mol Med,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 46 single-nucleotide polymorphisms (SNPs) in the microsomal glutathione S-transferase 1 (MGST1) gene", J HUM GENET, 46(10), 2001, pp. 590-594

Abstract

A major goal in our laboratory is to understand the role of common geneticvariations among individual patients as regards susceptibility to common diseases and differences in therapeutic efficacy and/or side effects of drugs. As an addition to the high-density SNP (single-nucleotide polymorphism) maps of 12 glutathione S-transferase and related genes reported earlier, weprovide here an SNP map of the microsomal glutathione S-transferase 1 (MGST1) gene. Among 48 healthy Japanese volunteers examined, we identified a total of 46 SNPs at this locus, 36 of which had not been reported before: 4 in the promoter region, 34 in introns, 3 in the 3 ' untranslated region, and5 in the 3 ' flanking region. No SNP was found in 5 ' untranslated or coding regions. The ratio of transition to transversion was approximately 1.2:1. Among the 13 insertion-deletion polymorphisms was a 2-bp deletion in the coding region of MGST1 in DNA from one of the volunteers, which resulted ina frame-shift mutation. Since the gene product encoded by this mutant allele would lack the C-terminal half including the MAPEG (membrane-associated proteins in eicosanoid and glutathione metabolism) domain, MGST1 activity is likely to be reduced in the carrier's cells. The SNP map presented here adds td the archive of tools for studying complex genetic diseases, population migration patterns, and a variety of pharmacogenetic possibilities.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/03/20 alle ore 15:55:26