title: Absence of R1066X mutation in six Japanese patients with Dubin-Johnson syndrome.
abstract: The Dubin-Johnson syndrome (DJS) is a rare autosomal recessive liver disease characterized by chronic conjugated hyperbilirubinemia. The phenotype of this syndrome is thought to be caused by the impaired expression of the canalicular multispecific organic anion transporter (cMOAT), which transports non-bile salt organic anions into the bile. Recently, a mutation from arginine (Arg) to stop-codon at codon 1066 in the cMOAT gene has been reported in one Caucasian patient with DJS. In this study, we investigated whether this mutation is found in Japanese patients with DJS. Genomic DNAs were extracted from the leukocytes of six Japanese patients and the fragments spanning codon 1066 were amplified by polymerase-chain reaction. The digest of the amplified fragments with a restriction enzyme, Taql, demonstrated that all of six patients did not exhibit an R1066X mutation. No mutation at Arg1066 was also confirmed by direct sequencing of the amplified products. These findings suggested that this R1066X mutation was not a major mutation in Japanese patients with DJS. Further investigation will be required in an attempt to search other mutations in cMOAT gene in Japanese patients with DJS.
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000818:Animals; D027321:Anion Transport Proteins; D001120:Arginine / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D007566:Jaundice, Chronic Idiopathic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D051381:Rats