Nora Hassan Radwan Mahmoud <br/><br/>
MDR3 gene mutation in children with progressive familial intrahepatic cholestasis /  
 فى الاطفال المصابين بمرض ركود العصارة الصفراوية العائلي التقدمي داخل الكبد MDR3 التحور الجينى للجين   
Nora Hassan Radwan Mahmoud ; Supervised Manal Kamal , Hanaa Alkaraksy , Mona Fathy 
 - Cairo :   Nora Hassan Radwan Mahmoud ,   2015 
 - 110 P. :   charts , facsimiles ;   25cm 
<br/><br/>Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology 
<br/><br/> 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 
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<br/><br/><label>Subjects--Index Terms: </label>ABCB4 transporter MDR3 gene Progressive Familial Intrahepatic Cholestasis 3 (PFIC3)