| Literature DB >> 12166651 |
Susumu Saito1, Aritoshi Iida, Akihiro Sekine, Yukie Miura, Chie Ogawa, Saori Kawauchi, Shoko Higuchi, Yusuke Nakamura.
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.Entities:
Mesh：
Substances：
Year: 2002 PMID： 12166651 DOI： 10.1007/s100380200018
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172