Six Novel Single Nucleotide Polymorphisms of the Steroid Sulfatase Gene in a Japanese Population

被引：3

作者：

Matsumoto, Jun ^{[2
]}

Ariyoshi, Noritaka ^{[1
]}

Ishii, Itsuko ^{[2
]}

Kitada, Mitsukazu ^{[1
]}

机构：

[1] Chiba Univ, Sch Med, Div Pharma, Chiba 280, Japan

[2] Chiba Univ, Grad Sch Pharmaceut Sci, Lab Clin Pharmacol, Chiba, Japan

来源：

DRUG METABOLISM AND PHARMACOKINETICS | 2010年 / 25卷 / 04期

基金：

日本学术振兴会;

关键词：

steroid sulfatase; estrogen; nonsynonymous SNP; deconjugate enzyme; Japanese; X-LINKED ICHTHYOSIS; BREAST-CANCER; POINT MUTATIONS; FIBROBLASTS; INHIBITION; CLONING; ENZYME;

D O I：

10.2133/dmpk.DMPK-10-SC-027

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Steroid sulfatase (STS) is a microsomal enzyme responsible for the formation of 3 beta-hydroxysteroid from the corresponding sulfate conjugates. Screening of all exons, exon-intron boundaries and the 5'-flanking region of the STS gene in 93 healthy Japanese individuals was carried out. Among seven single nucleotide polymorphisms (SNPs) identified in this study, six were novel, including one in the untranslated region of exon 1, one in exon 10, and four in the 5'-flanking region. The nonsynonymous SNP (1647G>A) in exon 10 caused amino-acid replacement, Val476Met, with a frequency of 0.014. The allele frequencies of the other SNPs were 0.071 for 155G>A, 0.007 for -21G>A, 0.014 for -1117T>C, 0.106 for 1588G>A, 0.007 for -2427G>A and 0.007 for -2837T>C.

引用

页码：403 / 407

页数：5

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