High-density single-nucleotide polymorphism (SNP) map of the 150-kb regioncorresponding to the human ATP-binding cassette transporter A1 (ABCA1) gene

Citation
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
Citations number
23
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
1434-5161 → ACNP
Volume
46
Issue
9
Year of publication
2001
Pages
522 - 528
Database
ISI
SICI code
1434-5161(2001)46:9<522:HSP(MO>2.0.ZU;2-#
Abstract
Highly dense catalogs of human genetic variations, in combination with high -throughput genotyping technologies, are expected to clarify individual gen etic differences in pharmacological responsiveness and predispositions to c ommon diseases. Here we report single-nucleotide polymorphisms (SNPs) prese nt among 48 Japanese individuals at the locus for the human ATP-binding cas sette 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 assoc iated with reduced cholesterol efflux. We identified a total of 162 SNPs, 1 49 of which were novel. within the 150-kb region encompassing the entire AB CA1 gene. Eight of the SNPs lie within coding elements, two in 5' flanking regions, 147 in introns, and five in 3' untranslated regions, but none were found in 5' untranslated or 3' flanking regions. The ratio of transitions to transversions was approximately 2.37 to 1. Our dense SNP map of this reg ion could serve as a powerful resource for studies of complex genetic disea ses that may be associated with ABCA1 and of individual responses to drug t herapy.