Association of G71R Mutation of the UGT1A1 Gen with Neonatal Hyper Bilirubinemia in the Iranian Population

Objective:Jaundice with indirect hyperbilirubinemia is one of the most common neonatal problems thatoccur in 60% of term and 80% of preterm neonates but the causes are mostly unknown. It is suggestedthat race plays an important role in the prevalence of hyperbilirubinemia. It is a common problem in Iranthat worries both parents and pediatricians. It has been found that a mutation in the UGT1A1 gene isresponsible for structural changes in an encoded enzyme which reduces the function of the enzyme.Materials and methods: This is a case-control study carried out in Ghaem Educational Hospital,Mashhad University of Medical Sciences from December 2007 for the period of one year. 26 healthyneonates tested for indirect hyperbilirubinemia within first week after full-term delivery and 53 healthyneonates without hyperbilirubinemia as a control group were included. Genomic DNA extracted using 2cc blood sample followed by RFLP-PCR for detection of G71R mutation of UGT1A1 gene have beenperformed. SPSS software (version 16), t- test and chi square analysis have been used for statisticalanalysis of obtained data.Results: 4.3% of the hyperbilirubinemic group was homozygotes for mutation in UGT1A1 and 26.1%were heterozygotes while 69.6% had no mutation. 21.3% of the control group had the mutation with4.3% being homozygote and 17% being heterozygote.Conclusion: Frequency of G71R mutation in the hyperbilirubinemia group was not significantly more thanthat in the control group among Iranian newborns.This finding suggests that G71R mutation may notcontribute to the development of neonatal hyperbilirubinemia in Iranian newborns.It is recommended toestablish further studies using well-designed inclusion criteria and more specialized mutation analysistechniques which cover all types of probable mutations in G71R gene.