title: Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR.
abstract: We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in eight genes encoding the ATP-binding cassette, subfamily C (ABCC/ MRP/CFTR), by direct sequencing of their entire genomic regions, except repetitive sequence elements. This approach identified 688 SNPs and 91 insertion/deletion polymorphisms among the eight genes. Of the 688 SNPs, 81 were identified in the ABCC1 gene, 41 in ABCC2, 30 in ABCC3, 230 in ABCC4, 76 in ABCC5, 58 in CFTR, 102 in ABCC8. and 70 in ABCC9. Six SNPs were located in the 5' flanking regions, 617 in introns, 46 in exons, and 19 in the 3' flanking regions. These variants should contribute to studies that investigate possible correlations of genotypes with disease-susceptibility phenotypes and responsiveness or adverse effects to drugs.
authors.affiliation: Laboratory for Genotyping, SNP Research Center, Institute of Physical and Chemical Research, Tokyo, 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: Yukie
authors.initials: Y
authors.lastname: Miura
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: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D014644:Genetic Variation; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D000089762:Multidrug Resistance-Associated Protein 2; D010641:Phenotype; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D013329:Structure-Activity Relationship
chemical_list: C000715087:ABCC2 protein, human; D018528:ATP-Binding Cassette Transporters; D000089762:Multidrug Resistance-Associated Protein 2