UGT1A1 gene and neonatal hyperbilirubinemia: A preliminary study from Bengkulu, Indonesia

Radhian Amandito, Raihandhana Putradista, Clara Jikesya, Dwi Utaminingsih, Jumnalis Rusin, Rinawati Rohsiswatmo, Amarila Malik

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4 Citations (Scopus)

Abstract

Objective: The genetic involvement in unconjugated neonatal hyperbilirubinemia has been extensively studied. Despite the high incidence of hyperbilirubinemia in Indonesia, studies are lacking. The objective of this study is to elucidate the role of polymorphism in the UGT1A1 in Neonatal Hyperbilirubinemia in Bengkulu, Indonesia. Results: There were 41 neonates enrolled in the study; 30 had a total serum bilirubin level ≥ 15 mg/dL (hyperbilirubinemia neonates) while 11 has < 15 mg/dL (control neonates). Genetic mutations in Exon 1, UGT1A1 6 (c211g > a) and one in promoter region, UGT1A1∗60 (c3279t > g) were determined by polymerase chain reaction-restriction fragment length polymorphism. We found 18 (60%) mutation in exon 1 in hyperbilirubinemia group and 7 (64%) in the control group with an identical allele frequency of 0.3 in both groups. We found heterozygous UGT1A1 60 4 times (13.3%) and homozygous 26 times (86.7%) in the hyperbilirubinemia group, with an identical allele frequency of 0.935 in hyperbilirubinemia and 1 in control group. This study supports the involvement of genetic factors in the development of unconjugated hyperbilirubinemia in Bengkulu population.

Original languageEnglish
Article number172
JournalBMC Research Notes
Volume11
Issue number1
DOIs
Publication statusPublished - 13 Mar 2018

Keywords

  • Bilirubin
  • Glucuronosyltransferase
  • Indonesia
  • Neonatal hyperbilirubinemia
  • Restriction fragment length polymorphism

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