Catalog of 238 variations among six human genes encoding solute carriers (hSLCs) in the Japanese population

被引：46

作者：

Saito, S

Iida, A

Sekine, A

Ogawa, C

Kawauchi, S

Higuchi, S

Nakamura, Y

机构：

[1] Univ Tokyo, Inst Med Sci, Mol Med Lab, Ctr Human Genome,Minato Ku, Tokyo 1088639, Japan

[2] Yokohama Inst, Lab Genotyping, SNP Res Ctr, Inst Phys & Chem Res, Yokohama, Kanagawa, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2002年 / 47卷 / 11期

关键词：

SNP; SLC10A1; SLC15A1; SLC22A1; SLC22A2; SLC22A4; SLC22A5;

D O I：

10.1007/s100380200088

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We screened DNAs of 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in six genes encoding proteins of the solute carrier (SLC) family by direct sequencing of their entire genomic regions except for repetitive-sequence elements. This approach identified 213 SNPs and 25 insertion/deletion polymorphisms among the six genes. On average, we identified 1 SNP in every 509 nucleotides. Of the 213 SNPs, 14 were identified in the SLC10A1 gene, 51 in SLC15A1, 29 in SLC22A1, 27 in SLC22A2,54 in SLC22A4, and 38 in SLC22A5. Eight were located in 5' flanking regions, 172 in introns, 25 in exons, and 8 in 3' flanking regions. These variants should contribute to investigations of possible correlations between genotypes and phenotypes as regards disease susceptibilities or responsiveness to drug therapy.

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页码：576 / 584

页数：9

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