Three novel single nucleotide polymorphisms (SNPs) of CYP2S1 gene in Japanese individuals

Drug Metab Pharmacokinet. 2007 Apr;22(2):136-40. doi: 10.2133/dmpk.22.136.

Abstract

We analyzed all nine exons and exon-intron junctions of the CYP2S1 gene in 200 Japanese individuals and identified the following three novel single nucleotide polymorphisms (SNPs): 4612G>A (Glu147Glu) in exon 3, 5478C>T (Leu230Leu) and 5479T>G (Leu230Arg, CYP2S1*5A) in exon 5. The allele frequencies were 0.013 for 4612G>A, 0.058 for 5478C>T, and 0.003 for 5479T>G. In addition, a known SNP 1324C>G (Pro74Pro) was detected at a frequency of 0.300.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine
  • Asian People / genetics*
  • Cytochrome P-450 Enzyme System / genetics*
  • DNA Mutational Analysis
  • Exons
  • Gene Frequency
  • Genotype
  • Glutamic Acid
  • Humans
  • Introns
  • Japan
  • Leucine
  • Polymorphism, Single Nucleotide*
  • Proline

Substances

  • Glutamic Acid
  • Cytochrome P-450 Enzyme System
  • Arginine
  • Proline
  • CYP2S1 protein, human
  • Leucine