Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR.

摘要: 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 among genes. Of SNPs, 81 were ABCC1 gene, 41 ABCC2, 30 ABCC3, 230 ABCC4, 76 ABCC5, 58 CFTR, 102 ABCC8, 70 ABCC9. Six located 5′ flanking 617 introns, 46 exons, 19 3′ regions. These variants should contribute to studies that investigate possible correlations genotypes with disease-susceptibility phenotypes responsiveness or adverse effects drugs.