title: Three novel single nucleotide polymorphisms (SNPs) of CYP2S1 gene in Japanese individuals.
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.
authors.affiliation: Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, Sendai, Japan.
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Hanzawa
authors.forename: Takamitsu
authors.initials: T
authors.lastname: Sasaki
authors.forename: Masahiro
authors.initials: M
authors.lastname: Hiratsuka
authors.forename: Masaaki
authors.initials: M
authors.lastname: Ishikawa
authors.forename: Michinao
authors.initials: M
authors.lastname: Mizugaki
mesh_terms: D001120:Arginine; D044466:Asian People / Q000235:genetics*; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005787:Gene Frequency; D005838:Genotype; D018698:Glutamic Acid; D006801:Humans; D007438:Introns; D007564:Japan; D007930:Leucine; D020641:Polymorphism, Single Nucleotide; D011392:Proline
chemical_list: D018698:Glutamic Acid; D003577:Cytochrome P-450 Enzyme System; D001120:Arginine; D011392:Proline; C422564:CYP2S1 protein, human; D007930:Leucine