1. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis 
Olivier Rosmorduc, Raoul Poupon 
Gastroenterology 
Volume 120, Issue 6, Pages (May 2001)
DOI: /gast
Copyright © 2001 American Gastroenterological Association Terms and Conditions

2. Fig. 1
Morphology and histopathology. (A) Ultrasound images of intrahepatic gallstones in patient 1. (B) Intrahepatic cholesterol gallstones in patient 3. (C, D) Histopathology of liver biopsy specimens obtained from patients 3 and 4.
Gastroenterology  , DOI: ( /gast )
Copyright © 2001 American Gastroenterological Association Terms and Conditions

3. Fig. 2
Pedigrees and MDR3 gene mutations in patients 1, 2, 3, and 5. Patients with intrahepatic cholesterol gallstones are indicated by colored figures in (A) patient 1, (B) patient 5, (C) patients 2 and 3. In patient 1, a homozygous C > T transition changes codon 320 in exon 9 from TCC to TTC, resulting in a serine-to-phenylalanine substitution. In patients 5, 5a, and 5b, a heterozygous A > G missense mutation changes codon 175 in exon 6 from ACG to GCG, resulting in a threonine-to-valine substitution. In patients 2, 3, and 3a, a heterozygous single-nucleotide insertion (1327insA) starting at codon 443 in exon 12 results in a frameshift evidenced by a double sequence after the insertion of A and subsequent stop codon downstream. (A, B, C) The wild-type sequence is indicated in the left panel.
Gastroenterology  , DOI: ( /gast )
Copyright © 2001 American Gastroenterological Association Terms and Conditions

4. Fig. 3
Localization of the mutations on MDR3 cDNA. The exons (Ex) 6–12 and 25–28 are represented by solid boxes. Solid boxes represent the transmembrane domains (TM 2–6), and hatched boxes represent the nuclear binding domains 1 and 2 (NBD1 and 2). The different MDR3 mutations are localized on the cDNA by fine arrows.
Gastroenterology  , DOI: ( /gast )
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5. Fig. 4
Detection of the (S320F) point mutation in genomic DNA by restriction analysis for patients 1, 1a, and 1b. The mutation (S320F) (A) creates a new HinfI site in a 210-bp PCR fragment of exon 9 and (B) removes a BamHI site. (A) After HinfI digestion, detection of 1 uncut fragment (sized at 210 bp) corresponds to the presence of the wild-type allele, and detection of 2 fragments (sized at 142 and 68 bp) corresponds to the presence of the mutated allele. (B) After BamHI digestion, detection of 1 uncut fragment (sized at 210 bp) corresponds to the presence of the mutated allele, and detection of 2 fragments corresponds to the presence of the wild-type allele. Lane 1: amplified DNA fragment without enzymatic digestion; lane 2: S320F mutated homozygote (patient 1); lanes 3 and 4: S320F heterozygotes (patients 1a and 1b); lane 5: wild-type homozygote.
Gastroenterology  , DOI: ( /gast )
Copyright © 2001 American Gastroenterological Association Terms and Conditions