title: Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
abstract: OBJECTIVE
  To estimate the frequency of mutations involving exons 6, 8 and 9 of Adenosine triphosphate-binding cassette, subfamily B, member 4 (ABCB4) gene among children with progressive intrahepatic cholestasis with high γ-GT activity (PFIC3).
  
  
  METHODS
  Cross sectional study was conducted on 30 children with PFIC3. Genotyping was performed by sequencing analysis of exons 6, 8 and exon 9 of ABCB4 gene.
  
  
  RESULTS
  Heterozygous synonymous polymorphic variant was detected in exon 6 (rs 1202283) and in exon 8 (rs 2109505). No mutations in studied exons were detected.
  
  
  CONCLUSIONS
  Exons 6, 8 and 9 mutations of ABCB4 gene are not common among Egyptian children with PFIC3.
authors.affiliation: a Clinical and Chemical Pathology Department, Faculty of Medicine , Cairo University , Cairo , Egypt ;
authors.forename: Mona
authors.initials: M
authors.lastname: Fathy
authors.affiliation: a Clinical and Chemical Pathology Department, Faculty of Medicine , Cairo University , Cairo , Egypt ;
authors.forename: Manal
authors.initials: M
authors.lastname: Kamal
authors.affiliation: a Clinical and Chemical Pathology Department, Faculty of Medicine , Cairo University , Cairo , Egypt ;
authors.forename: Marwa
authors.initials: M
authors.lastname: Al-Sharkawy
authors.affiliation: b Pediatrics Department, Faculty of Medicine , Cairo University , Cairo , Egypt.
authors.forename: Hanaa
authors.initials: H
authors.lastname: Al-Karaksy
authors.affiliation: a Clinical and Chemical Pathology Department, Faculty of Medicine , Cairo University , Cairo , Egypt ;
authors.forename: Nora
authors.initials: N
authors.lastname: Hassan
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D002648:Child; D002780:Cholestasis, Intrahepatic / Q000453:epidemiology / Q000235:genetics*; D003430:Cross-Sectional Studies; D004534:Egypt; D005091:Exons / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; C095122:multidrug resistance protein 3
keywords: ABCB4 transporter; Progressive Familial Intrahepatic Cholestasis 3; children; genotyping