title: Genetic polymorphisms of glycine N-acyltransferase in Japanese individuals.
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.
authors.affiliation: Osaka University, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Yamamoto
authors.forename: Shinpei
authors.initials: S
authors.lastname: Nonen
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Fukuda
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamazaki
authors.forename: Junichi
authors.initials: J
authors.lastname: Azuma
mesh_terms: D000217:Acyltransferases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008658:Inactivation, Metabolic / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D004364:Pharmaceutical Preparations / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide
chemical_list: D004364:Pharmaceutical Preparations; D004247:DNA; D000217:Acyltransferases; C020680:glycine acyltransferase