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Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and UGT8
- Source :
- Journal of Human Genetics. 47:0505-0510
- Publication Year :
- 2002
- Publisher :
- Springer Science and Business Media LLC, 2002.
-
Abstract
- We report here three high-density maps of variations found among 48 Japanese individuals in three uridine diphosphate glycosyltransferase (UGT) genes, UGT2A1, UGT2B15, and UGT8. A total of 86 single-nucleotide polymorphisms (SNPs) were identified through systematic screening of genomic regions containing these genes: 8 in 5' flanking regions, 7 in coding regions, 67 in introns, 3 in 3' untranslated regions, and 1 in a 3' flanking region. We also discovered 14 variations of other types. Of the 86 SNPs, 63 (73%) were considered to be novel on the basis of comparison of our data with the Database of SNPs (dbSNP) of the National Center for Biotechnology Information. Among the seven SNPs identified in exonic sequences, five were non-synonymous changes that would result in amino-acid substitutions. The collection of SNPs derived from this study will serve as an additional resource for studies of complex genetic diseases and responsiveness to drug therapy.
- Subjects :
- Untranslated region
Nonsynonymous substitution
Genetics
dbSNP
DNA Mutational Analysis
Glycosyltransferase Gene
Intron
Chromosome Mapping
Single-nucleotide polymorphism
DNA
Biology
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Humans
Coding region
Glucuronosyltransferase
Gene
Genetics (clinical)
Subjects
Details
- ISSN :
- 1435232X and 14345161
- Volume :
- 47
- Database :
- OpenAIRE
- Journal :
- Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....e3390d92ef67c9f47fb44b821700d183
- Full Text :
- https://doi.org/10.1007/s100380200075