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Titolo:
High-density single-nucleotide polymorphism (SNP) map of the 150-kb regioncorresponding to the human ATP-binding cassette transporter A1 (ABCA1) gene
Autore:
Iida, A; Saito, S; Sekine, A; Kitamura, Y; Kondo, K; Mishima, C; Osawa, S; Harigae, S; Nakamura, Y;
Indirizzi:
Univ Tokyo, Inst Med Sci, Mol Med Lab, Ctr Human Genome,Minato Ku, Tokyo 1088639, Japan Univ Tokyo Tokyo Japan 1088639 an Genome,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: 9, volume: 46, anno: 2001,
pagine: 522 - 528
SICI:
1434-5161(2001)46:9<522:HSP(MO>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
TANGIER-DISEASE; CANDIDATE GENES; MUTATIONS; IDENTIFICATION; DEFICIENCY; ENGULFMENT; SEQUENCE; CLONING;
Keywords:
single-nucleotide polymorphism (SNP); insertion-deletion polymorphism; high-density SNP map; ATP-binding cassette A1 transporter gene Japanese population; nonsynonymous substitution;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Nakamura, Y Univ Tokyo, Inst Med Sci, Mol Med Lab, Ctr Human Genome,MinatoKu, 4-6-1 Shirokanedai, Tokyo 1088639, Japan Univ Tokyo 4-6-1 ShirokanedaiTokyo Japan 1088639 8639, Japan
Citazione:
A. Iida et al., "High-density single-nucleotide polymorphism (SNP) map of the 150-kb regioncorresponding to the human ATP-binding cassette transporter A1 (ABCA1) gene", J HUM GENET, 46(9), 2001, pp. 522-528

Abstract

Highly dense catalogs of human genetic variations, in combination with high-throughput genotyping technologies, are expected to clarify individual genetic differences in pharmacological responsiveness and predispositions to common diseases. Here we report single-nucleotide polymorphisms (SNPs) present among 48 Japanese individuals at the locus for the human ATP-binding cassette transporter Al (ABCA1) gene. ABCA1 plays a key role in apolipoprotein-mediated cholesterol transport, and mutations in this gene are responsible for Tangier disease and familial high-density lipoprotein deficiency associated with reduced cholesterol efflux. We identified a total of 162 SNPs, 149 of which were novel. within the 150-kb region encompassing the entire ABCA1 gene. Eight of the SNPs lie within coding elements, two in 5' flankingregions, 147 in introns, and five in 3' untranslated regions, but none were found in 5' untranslated or 3' flanking regions. The ratio of transitionsto transversions was approximately 2.37 to 1. Our dense SNP map of this region could serve as a powerful resource for studies of complex genetic diseases that may be associated with ABCA1 and of individual responses to drug therapy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/08/20 alle ore 00:57:45