Catalog of 320 single nucleotide polymorphisms (SNPs) in 20 quinone oxidoreductase and sulfotransferase genes

Citation
A. Iida et al., Catalog of 320 single nucleotide polymorphisms (SNPs) in 20 quinone oxidoreductase and sulfotransferase genes, J HUM GENET, 46(4), 2001, pp. 225-240
Citations number
27
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
1434-5161 → ACNP
Volume
46
Issue
4
Year of publication
2001
Pages
225 - 240
Database
ISI
SICI code
1434-5161(2001)46:4<225:CO3SNP>2.0.ZU;2-Q
Abstract
Single nucleotide polymorphisms (SNPs) in genes encoding drug-metabolizing enzymes, transporters, receptors, and other drug targets have been widely i mplicated as contributors to differences among individuals as regards the e fficacy and toxicity of many medications, as well as the susceptibility to complex diseases. By combining the polymerase chain reaction (PCR) techniqu e with direct sequencing, we screened genomic DNAs from 48 Japanese Volunte ers for SNPs in genes encoding three quinone oxidoreductases (NQO1, NQO2, a nd PIG3) and 17 sulfotransferases (SULT1A1, SULT1A2, SULT1A3, SULT1C1, SULT 1C2, SULT2A1, SULT2B1, ST1B2 TPST1, TPST2, SULTX3, STE, CST, HNK-1 ST, CHST 2, CHST4, and CHST5). In all, we identified 320 SNPs from these 20 loci: 22 within coding elements, 21 in 5' flanking regions, 10 in 5' untranslated r egions, 223 in introns, 19 in 3' untranslated regions, and 25 in 3' flankin g regions. The ratio of transitions to transversions was approximately 2.3 to 1. Of the 22 coding SNPs, 6 were nonsynonymous substitutions that result ed in amino-acid substitutions. The high-density SNP maps we constructed fr om this data for each of the quinone oxidoreductases and sulfotransferases examined here should provide useful information for investigations designed to detect association(s) between genetic variations and common diseases or responsiveness to drug therapy.