Mutation analyses of bilirubin UGT1A1gene in neonatal that associated with hyperbilirubinemia in Al-Najaf province

Abstract EN

The objectives of this study were to determine the frequencies of the mutations in the bilirubin UDP glycosyltransferase-UGT1A1 gene which associated with neonatal hyperbilirubinemia in a group of Iraqi babies in Al-Najaf province and a group of normal controls and to compare the frequencies of this mutation between these groups.

The newborns with hyperbilirubinemia in this study were 92 newborns with a total bilirubin level of more than 15 mg / dl serum in the first 7 days of life.

They showed no blood group and Rh incompatibility, and no clinically detectable pathology except for hyperbilirubinemia.

While control group consists from 20 healthy newborns without hyperbilirubinemia all were without clinical manifestation of any disease.

This study was carried out in the laboratory of biochemistry in Al-Zahraa Pediatric and Maternal Teaching Hospital and laboratory of molecular biology in the Department of Biology in the Faculty of Sciences-Kufa University, during the period from July 2013 through March 2014.

The distribution of hyperbilirubinemia according to gender showed higher rates in male newborns than female newborns with a significant difference (P < 0.05) between them.

The estimated incidence of hyperbilirubinemia increased in the age group (1d-3d) but without a significant difference in comparison with the other groups.

The mutation analyses of bilirubin UDP glycosyltransferase-UGT1A1 gene, revealed that the genotypic distribution for G71R mutation among the hyperbilirubinemia group (92) has been found that 11 of 92 newborn had the G71R mutation (heterozygotes), which mean that the UGT1A1 gene mutation was a possible risk factor for the development of neonatal hyperbilirubinemia in Iraq.