ABCB11 Gene Mutations in Children with Progressive Familial Intrahepatic Cholestasis (PFIC) and Low GGT,
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- Category: Vol. 84, March 2016
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ABCB11 Gene Mutations in Children with Progressive Familial Intrahepatic Cholestasis (PFIC) and Low GGT, MARIANNE S. MAKBOOL, HANAA M. EL-KARAKSY, AMAAL A. ABD EL-AAL and NORA M. SELIM
Abstract
Background: Progressive Familial Intrahepatic Cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The ABCB 11 gene encodes the ATP-dependent canalicular Bile Salt Export Pump (BSEP) of human liver which is the major exporter of bile acids against extreme concentration gradient. Mutations in this protein leads to decreased bile flow (PFIC2) with accu-mulation of bile salts inside hepatocytes with ongoing severe hepatocellular damage.
Aim of Work: To detect mutations in exon 9 of ABCB 11 gene in patients with suspected PFIC2 among studied Egyptian population in order to confirm diagnosis of PFIC2 and to detect mutations that are the cause of marked B SEP deficiency.
Patients and Methods: This study was conducted on 33 subjects including 11 suspected PFIC2 patients and 22 healthy control subjects. ABCB 11 genotyping was performed by DNA extraction followed by PCR amplification, purification then sequencing of exon 9 of the gene.
Results: No mutations or variations in sequence results involving Exon 9 of the ABCB 11 gene of studied Egyptian PFIC2 patients and phenotypically healthy subjects.
Conclusion: In spite of considering exon 9 mutations of ABCB 11 gene are common worldwide, these mutations are not that common among Egyptian ethnic population, however larger sample size is needed.