title: Cord blood bilirubin level in relation to bilirubin UDP-glucuronosyltransferase gene missense allele in Chinese neonates.
abstract: OBJECTIVE
  To investigate bilirubin UDP-glucuronosyltransferase (UGT1A1) gene allele in healthy Chinese neonates, their cord bilirubin level and the subsequent hyperbilirubinemia to determine relationships among them.
  
  
  METHODS
  Cord blood of 48 neonates was obtained to determine the exon 1 of UGT1A1 gene, total serum bilirubin, albumin, glutamic-pyruvic transaminase (GPT), glutamic-oxalacetic transaminase (GOT) and haemoglobin (Hb) concentration. Neonatal jaundice was assessed by measurement of transcutaneous bilirubin (TCB) and serum bilirubin. Neonates were divided into two groups according to mutant or normal allele to compare the variables.
  
  
  RESULTS
  Nineteen infants had the nucleotide 211 G-->A allele, 3 had the heterozygous variation (686C-->A, 845 A-->T, 231G-->A). In the 211 A allele group, cord bilirubin was significantly higher than in the 211 G allele group (p = 0.034), but there were no differences in albumin (p = 0.678), GPT (p = 0.460), GOT (p = 0.440) and Hb (p = 0.886). The TCB (at 48, 96 h), the frequency of the hyperbilirubinemia and prolonged jaundice were also significantly higher in the 211 A allele group.
  
  
  CONCLUSIONS
  The UGT1A1 gene codon G71R allele is a risk factor for neonatal hyperbilirubinemia in the Chinese population. Its effect on bilirubin metabolism may present early on, as well as late in foetal life.
authors: Neonatal Intensive Care Unit, The Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
authors: Ge
authors: G
authors: Sun
authors: Mingyuan
authors: M
authors: Wu
authors: Jiang
authors: J
authors: Cao
authors: Lizhong
authors: L
authors: Du
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001663:Bilirubin / Q000097:blood / Q000235:genetics*; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005260:Female; D005312:Fetal Blood; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme