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MDR3 gene mutation in children with progressive familial intrahepatic cholestasis / Nora Hassan Radwan Mahmoud ; Supervised Manal Kamal , Hanaa Alkaraksy , Mona Fathy

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Nora Hassan Radwan Mahmoud , 2015Description: 110 P. : charts , facsimiles ; 25cmOther title:
  • فى الاطفال المصابين بمرض ركود العصارة الصفراوية العائلي التقدمي داخل الكبد MDR3 التحور الجينى للجين [Added title page title]
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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: 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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Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2015.No.M (Browse shelf(Opens below)) Not for loan 01010110067030000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2015.No.M (Browse shelf(Opens below)) 67030.CD Not for loan 01020110067030000

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

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

Issued also as CD

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