Seventy genetic variations in human microsomal and soluble epoxide hydrolase genes (EPHX1 and EPHX2) in the Japanese population

Citation
S. Saito et al., Seventy genetic variations in human microsomal and soluble epoxide hydrolase genes (EPHX1 and EPHX2) in the Japanese population, J HUM GENET, 46(6), 2001, pp. 325-329
Citations number
22
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
1434-5161 → ACNP
Volume
46
Issue
6
Year of publication
2001
Pages
325 - 329
Database
ISI
SICI code
1434-5161(2001)46:6<325:SGVIHM>2.0.ZU;2-B
Abstract
Human microsomal and soluble epoxide hydrolases (mEH and sEH) are enzymes t hat metabolize xenobiotic molecules. We screened DNA from 48 Japanese indiv iduals for single-nucleotide polymorphisms (SNPs) in both genes by direct s equencing of the entire genomic regions containing EPHX1 and EPHX2, except for repetitive elements. This approach identified 33 SNPs in the EPHX1 gene ; 6 of them were located in the 5 ' flanking region, 17 in introns, 8 in ex ons, and 2 in the 3 ' flanking region. In the EPHX2 gene, we identified 36 SNPs, including 4 in the 5 ' flanking region, 24 in introns, 5 in exons, an d 3 in the 3 ' flanking region, as well as one insertion/deletion polymorph ism in the 5 ' flanking region. These variants may contribute to a more pre cise understanding of the nature of correlations between genotypes and dise ase-susceptibility phenotypes that have been postulated in regard to human microsomal and soluble epoxide hydrolases.