Catalog of 680 variations among eight cytochrome P450 (CYP) genes, nine esterase genes, and two other genes in the Japanese population

被引：28

作者：

Saito, S ^{[1
]}

Iida, A ^{[1
]}

Sekine, A ^{[1
]}

Kawauchi, S ^{[1
]}

Higuchi, S ^{[1
]}

Ogawa, C ^{[1
]}

Nakamura, Y ^{[1
]}

机构：

[1] Yokohama Inst, Inst Phys & Chem Res, Lab Genotyping, SNP Res Ctr,Tsurumi Ku, Yokohama, Kanagawa 2300045, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2003年 / 48卷 / 05期

关键词：

single-nucleotide polymorphism (SNP); cytochrome P450 (CYP); esterase; GGT1; TGM1;

D O I：

10.1007/s10038-003-0021-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in eight cytochrome P450 (CYP) genes, nine esterase genes, and two other genes by directly sequencing the relevant genomic regions in their entirety except for repetitive elements. This approach identified 607 SNPs and 73 insertion/deletion polymorphisms among the 19 genes examined. Of the 607 SNPs, 284 were identified in CYP genes, 302 in esterase genes, and 21 in the other ;two genes (GGT1, and TGM1); overall, 37 SNPs were located in 5' flanking regions, 496 in introns, 55 in exons, and 19 in 3' flanking regions. These variants should contribute to studies designed to investigate possible correlations between genotypes and phenotypes of disease susceptibility or responsiveness to drug therapy.

引用

页码：249 / 270

页数：22

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