三个尿苷二磷酸糖基转移酶基因（UGT2A1、UGT2B15和UGT8）中的86个单核苷酸多态性（SNP）目录

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

作者信息

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

机构信息

Laboratory for Genotyping, RIKEN SNP Research Center, c/o RIKEN Yokohama Institute, Kanagawa, Japan.

出版信息

J Hum Genet. 2002;47(10):505-10. doi: 10.1007/s100380200075.

DOI:10.1007/s100380200075

PMID:12376738

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.

摘要

我们在此报告在48名日本个体中发现的三个尿苷二磷酸糖基转移酶（UGT）基因（UGT2A1、UGT2B15和UGT8）的高密度变异图谱。通过对包含这些基因的基因组区域进行系统筛选，共鉴定出86个单核苷酸多态性（SNP）：5'侧翼区域有8个，编码区域有7个，内含子有67个，3'非翻译区域有3个，3'侧翼区域有1个。我们还发现了14个其他类型的变异。在这86个SNP中，根据我们的数据与美国国立生物技术信息中心的单核苷酸多态性数据库（dbSNP）进行比较，有63个（73%）被认为是新发现的。在编码序列中鉴定出的7个SNP中，有5个是非同义变化，会导致氨基酸替换。本研究得出的SNP集合将为复杂遗传疾病研究和药物治疗反应性研究提供额外资源。