ABCMdb

PMID: 11313316

Rosmorduc O, Hermelin B, Poupon R
MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.
Gastroenterology. 2001 May;120(6):1459-67., [PubMed]

Sentences

No. Mutations Sentence Comment

155 ABCB4 p.Ser320Phe ABCB4 p.Thr175Val Sequencing of amplified genomic DNA confirmed the homozygosity of patients 1 and 4 for mutation S320F, the heterozygosity of patients 2 and 3 for mutation 1327insA, the heterozygosity of patient 5 for mutation T175V, and the homozygosity of patient 6 for mutation P1161S. Login to comment 157 ABCB4 p.Ser320Phe Restriction endonuclease digestion also confirmed the presence of the S320F mutation in patients 1 (homozygous transition) and 1a and 1b (heterozygous transition) and the absence of mutation in healthy unrelated individuals (Figure 4). Login to comment 165 ABCB4 p.Thr175Val The early occurrence of gallstones in these patients might be consistent with an MDR3 dose effect similar to those observed for Jag1 gene expression in some patients with Alagille syndrome.18 A missense mutation changed an amino acid threonine into a valine (T175V; patient 5). Login to comment 166 ABCB4 p.Ser320Phe This amino acid has recently been shown to be included in a very conserved cluster of 4 amino acids at position 169-172 (TRLT) in the central portion of the intracellular loop of the protein required for adenosine triphosphatase activity.19 The S320F mutation (patients 1 and 4) was located in exon 9, at the Figure 3. Login to comment 186 ABCB4 p.Ser320Phe Detection of the (S320F) point mutation in genomic DNA by restriction analysis for patients 1, 1a, and 1b. Login to comment 187 ABCB4 p.Ser320Phe The mutation (S320F) (A) creates a new HinfI site in a 210-bp PCR fragment of exon 9 and (B) removes a BamHI site. Login to comment 190 ABCB4 p.Ser320Phe ABCB4 p.Ser320Phe 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. Login to comment