Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3

作者：Fathy Mona^*; Kamal M****; Al Sharkawy Marwa; Al Karaksy Hanaa; Hassan Nora

来源：Biomarkers, 2016, 21(7): 573-577.

DOI：10.3109/1354750X.2016.1166264

• ABCB4 transporter
• children
• genotyping
• Progressive Familial Intrahepatic Cholestasis 3

Aim of work: To estimate the frequency of mutations involving exons 6, 8 and 9 of Adenosine triphosphate-binding cassette, subfamily B, member 4 (ABCB4) gene among children with progressive intrahepatic cholestasis with high gamma-GT activity (PFIC3).
Subjects and methods: Cross sectional study was conducted on 30 children with PFIC3. Genotyping was performed by sequencing analysis of exons 6, 8 and exon 9 of ABCB4 gene.
Results: Heterozygous synonymous polymorphic variant was detected in exon 6 (rs 1202283) and in exon 8 (rs 2109505). No mutations in studied exons were detected.
Conclusion: Exons 6, 8 and 9 mutations of ABCB4 gene are not common among Egyptian children with PFIC3.

• 出版日期2016