Three Novel Single Nucleotide Polymorphisms (SNPs) of CYP2S1 Gene in Japanese Individuals

Yoshiyuki HANZAWA; Takamitsu SASAKI; Masahiro HIRATSUKA; Masaaki ISHIKAWA; Michinao MIZUGAKI

doi:10.2133/dmpk.22.136

SNP Communications

Three Novel Single Nucleotide Polymorphisms (SNPs) of CYP2S1 Gene in Japanese Individuals

Yoshiyuki HANZAWA, Takamitsu SASAKI, Masahiro HIRATSUKA, Masaaki ISHIKAWA, Michinao MIZUGAKI

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Keywords: CYP2S1, genetic polymorphism, SNP

JOURNAL FREE ACCESS

2007 Volume 22 Issue 2 Pages 136-140

DOI https://doi.org/10.2133/dmpk.22.136

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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.

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