日本人群中甘氨酸N-酰基转移酶的基因多态性

Genetic polymorphisms of glycine N-acyltransferase in Japanese individuals.

作者信息

Yamamoto Akiko, Nonen Shinpei, Fukuda Tsuyoshi, Yamazaki Hiroshi, Azuma Junichi

机构信息

Osaka University, Japan.

出版信息

Drug Metab Pharmacokinet. 2009;24(1):114-7. doi: 10.2133/dmpk.24.114.

DOI:10.2133/dmpk.24.114

PMID:19252341

Abstract

In the present study, we identified 5 novel single nucleotide polymorphisms (SNPs) in the gene ofglycine N-acyltransferase (GlyAT) by resequencing the entire coding region and the exon-intron junctions from 95 Japanese individuals. The allelic frequencies of 5 novel SNPs were 0.016 for -695T>C, 0.021 for -260C>T, 0.005 for 290C>T, 0.005 for 19371G>A, and 0.005 for 21289G>A. Genetic variants of -979C>G and 21409A>G were in perfect linkage disequilibrium with 21364A>G and 21422C>T, respectively. The nonsynonymous SNP, 21289G>A (Arg131His) in exon 5, was also genotyped in 31 Caucasian individuals, but none of them possessed 21289A (131His) allele.

摘要

在本研究中，我们通过对95名日本个体的整个编码区和外显子-内含子连接区进行重测序，在甘氨酸N-酰基转移酶（GlyAT）基因中鉴定出5个新的单核苷酸多态性（SNP）。这5个新SNP的等位基因频率分别为：-695T>C为0.016，-260C>T为0.021，290C>T为0.005，19371G>A为0.005，21289G>A为0.005。-979C>G和21409A>G的基因变异分别与21364A>G和21422C>T处于完全连锁不平衡状态。外显子5中的非同义SNP 21289G>A（Arg131His）也在31名白种人中进行了基因分型，但他们均未携带21289A（131His）等位基因。