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ABCB11 gene mutations in children with progressive familial intrahepatic cholestasis (PFIC) and low GGT

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Clinical & Chemical Pathology

Advisors

Sharaf, Sahar A. , El-Qaraqssi, Hanaa M. , Maqboul, Maryan S. , Abdel-Al, Amal A.

Authors

Selim, Noura Mahmoud Aly

Accessioned

2017-07-12 06:40:53

Available

2017-07-12 06:40:53

type

M.D. Thesis

Abstract

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare inherited disease due to mutations in ABCB11 encoding the canalicular bile salt export pump (BSEP) of hepatocyte which is the major transporter responsible for bile acid excretion. Impaired biliary excretion leads to bile salt accumulation in hepatocytes, ongoing hepatocellular damage and increased risk of hepatocellular carcinoma. The aim of this work was to detect mutations in exon 8 and exon 9 of ABCB11 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 BSEP defeciency .This study was conducted on 33 subjects including 11 suspected PFIC2 patients and 22 healthy control subjects. ABCB11 genotyping was performed by DNA extraction followed by PCR amplification, purification then sequencing of exon 8 and exon 9 of the gene .Conclusion: there were no mutations or variations in sequence results involving Exon 8 and Exon 9 of the ABCB11 gene of studied Egyptian PFIC2 patients and phenotypically healthy subjects.

Issued

1 Jan 2013

DOI

http://dx.doi.org/10.21473/iknito-space/35966

Details

Type

Thesis

Created At

31 Jan 2023