抄録
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.
