Abstract Ref Number = APCP269
Oral Presentation
Radhian Amandito,Rinawati Rohsiswatmo,Andiani Wanda Putri,Nilam Sartika,Amarila Malik Pondok Indah General Hospital Division of Perinatology, Department of Child Health, Cipto Mangunkusumo General Hospital, Faculty of Medicine, Universitas Indonesia Division of Pharmaceutical Microbiology and Biotechnology, Faculty of Pharmacy, Universitas Indonesia
Background : Uridine diphospho(UDP)-glucuronocyltransferase(UGT) 1A1 polymorphisms are a risk factor of unconjugated hyperbilirubinemia in neonates. UGT1A1 polymorphisms decreases bilirubin conjugation thus causing hyperbilirubinemia. A variety of polymorphism have been reported, with UGT1A1*60 and UGT1A1*6 becoming of special attention in the Asian population. Hyperbilirubinemia polymorphism studies in Indonesia are scarce and require further studies. The objective of this study is to identify UGT1A1*60 and UGT1A1*6 profile in Indonesia in the heterogeneous ethnicity population Material : We enrolled 42 samples of jaundiced neonates who were born between January – April 2017 and treated in the Neonatal Intensive Care Unit of National Referral Center, Cipto Mangunkusumo Hospital Jakarta. Genetic mutations in Exon 1 (c211g>a) and promoter region (c3279t>g) were analysed by polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCR-RFLP) method with DraI and AvaII as restriction enzymes. Clinical data including total serum bilirubin and racial information were obtained by medical records and interview with parents. Results : We found mutations of UGT1A1*6 in 4.8% samples (heterozygous), and 4.8% heterozygous and 95.2% homozygous mutation of UGT1A1*60. Racial variations was not found in UGT1A1*60 while in Betawi descents, there were many heteroygous forms of UGT1A1*6 found. Conclusions : Polymorphisms of UGT1A1 were found in Indonesian neonates. Some ethnicities also showed increased tendency towards its incidence. However further study to show its clinical relevance with hyperbilirubinemia is required.
Keywords: Hyperbilirubinemia UGT1A1 Polymorphism
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