Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin–Johnson syndrome

摘要: Abstract Background & Aims: The Dubin–Johnson syndrome is characterized by conjugated hyperbilirubinemia and impaired secretion of anionic conjugates from hepatocytes into bile. Absence the multidrug-resistance protein 2 (MRP2; symbol ABCC2), an adenosine triphosphate–dependent conjugate export pump, hepatocyte canalicular membrane molecular basis this syndrome. aim study was elucidation all exon-intron boundaries MRP2 gene as a prerequisite for analysis mutations in patients with Methods: Exon-intron were determined, amplified exons screened mutations. Immunofluorescence microscopy served to localize human liver. Results: ~45 kilobases long; it contains 32 high proportion class 0 introns. In syndrome, we detected nonsense mutation at codon 1066 6-nucleotide deletion affecting codons 1392–1394. absent both patients. Conclusions: so far show that various can lead established article will facilitate additional gene. GASTROENTEROLOGY 1999;117:653-660