Catalog of 46 single-nucleotide polymorphisms (SNPs) in the microsomal glutathione S-transferase 1 (MGST1) gene

Citation
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
Citations number
30
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
1434-5161 → ACNP
Volume
46
Issue
10
Year of publication
2001
Pages
590 - 594
Database
ISI
SICI code
1434-5161(2001)46:10<590:CO4SP(>2.0.ZU;2-T
Abstract
A major goal in our laboratory is to understand the role of common genetic variations among individual patients as regards susceptibility to common di seases and differences in therapeutic efficacy and/or side effects of drugs . As an addition to the high-density SNP (single-nucleotide polymorphism) m aps of 12 glutathione S-transferase and related genes reported earlier, we provide here an SNP map of the microsomal glutathione S-transferase 1 (MGST 1) gene. Among 48 healthy Japanese volunteers examined, we identified a tot al 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, and 5 in the 3 ' flanking region. No SNP was found in 5 ' untranslated or codin g 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 c oding region of MGST1 in DNA from one of the volunteers, which resulted in a frame-shift mutation. Since the gene product encoded by this mutant allel e would lack the C-terminal half including the MAPEG (membrane-associated p roteins in eicosanoid and glutathione metabolism) domain, MGST1 activity is likely to be reduced in the carrier's cells. The SNP map presented here ad ds td the archive of tools for studying complex genetic diseases, populatio n migration patterns, and a variety of pharmacogenetic possibilities.