title: Catalog of 238 variations among six human genes encoding solute carriers ( hSLCs) in the Japanese population.
abstract: 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.
authors.affiliation: Laboratory for Genotyping, SNP Research Center, Yokohama Institute, Institute of Physical and Chemical Research, Yokohama, Japan.
authors.forename: Susumu
authors.initials: S
authors.lastname: Saito
authors.forename: Aritoshi
authors.initials: A
authors.lastname: Iida
authors.forename: Akihiro
authors.initials: A
authors.lastname: Sekine
authors.forename: Chie
authors.initials: C
authors.lastname: Ogawa
authors.forename: Saori
authors.initials: S
authors.lastname: Kawauchi
authors.forename: Shoko
authors.initials: S
authors.lastname: Higuchi
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D014644:Genetic Variation; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D007564:Japan; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D002352:Carrier Proteins