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Abstract
Aim of the work: The aim of this study was to estimate the frequency of mutations in exons 6, 8 and 9 of the MDR3 (ABCB4) gene among children with chronic intrahepatic cholestasis with elevated gamma-glutamyl-transpeptidase (Þ-GT) activity. Subjects and Methods: This cross sectional study was conducted on 30 Egyptian children with PFIC3. Genotyping of the MDR3 (ABCB4) gene was performed by DNA extraction followed by PCR amplification, purification then sequencing analysis of exons 6, 8 and exon 9 of the MDR3 gene.Results: The study revealed no mutations in sequence of exons 6, 8 and 9 of the MDR3 gene. Heterozygous single nucleotide polymorphisms (SNPs) were detected in exon 6 (rs 1202283) and exon 8 (rs 2109505).Conclusion: The study detected no disease causing mutations involving exons 6, 8 and 9 of MDR3 (ABCB4) gene among the studied 30 Egyptian children with PFIC3 and high GGT and detected only single nucleotide variation in exons 6 and 8