1.
Biomarkers
; 21(7): 573-7, 2016 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27075526
RESUMO
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 γ-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.