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Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and UGT8

Authors :
Yuri Kitamura
Saori Osawa
Yusuke Nakamura
Chihiro Mishima
Satoko Harigae
Aritoshi Iida
Akihiro Sekine
Susumu Saito
Kimie Kondo
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.

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