Prevalence of uridine glucuronosyl transferase 1A1 (UGT1A1) mutations in Malay neonates with severe jaundice

Azlin Ithnin, F. L. Wong, M. Ezham, Hafiza Alauddin, O. Ainoon

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

A number of genetic risk factors have been implicated in the development of neonatal severe hyperbilirubinaemia. This includes mutations in the uridine glucoronosyl transferase 1A1 (UGT1A1) gene which is responsible for unconjugated hyperbilirubinemia in Gilbert's Syndrome. We studied the prevalence of UGT1A1 gene mutations in a group of Malay neonates to determine whether they are risk factors to severe neonatal jaundice. One hundred and twenty-fi ve Malay neonates with severe hyperbilirubinemia were studied. Ninety-eight infants without severe hyperbilirubinaemia were randomly selected from healthy Malay term infants (controls). DNA from EDTA cord blood samples were examined for UGT1A1 mutations nt211G>A and nt247T>C using established Taqman SNP genotyping assays and the UGT1A1*28 variant was detected by the Agilent 2100 bioanalyzer. All samples were also screened for common Malay G6PD variants using established techniques. The frequency of UGT1A1 211G>A mutation is signifi cantly higher in the severely hyperbilirubinemic group (13%) than the control group (4%; p=0.015) and all the positive cases were heterozygous for the mutation. There was no signifi cant difference in the frequency of UGT1A1*28 mutation between the severely hyperbilirubinemic (3.5%) and the control group (0.01%; p=0.09). None of the neonates in both groups carried the nt247 T>C mutation. The prevalence of G6PD mutation was signifi cantly higher in the severely jaundiced group than control (9% vs 4%; p=0.04). In conclusion, nt 211 G>A alleles constitute at least 12% of UGT1A1 mutations underlying unconjugated hyperbilirubinemia and appears to be a signifi cant independent risk factor associated with severe neonatal hyperbilirubinemia in the Malay newborns.

Original languageEnglish
Pages (from-to)95-100
Number of pages6
JournalMalaysian Journal of Pathology
Volume33
Issue number2
Publication statusPublished - Dec 2011

Fingerprint

Uridine
Transferases
Jaundice
Newborn Infant
Mutation
Hyperbilirubinemia
Neonatal Hyperbilirubinemia
Control Groups
Gilbert Disease
Neonatal Jaundice
Fetal Blood
Edetic Acid
Genes
Single Nucleotide Polymorphism
Alleles
DNA

Keywords

  • Neonatal jaundice
  • Severe hyperbilirubinaemia
  • UGT1A1 mutation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cell Biology
  • Histology

Cite this

Prevalence of uridine glucuronosyl transferase 1A1 (UGT1A1) mutations in Malay neonates with severe jaundice. / Ithnin, Azlin; Wong, F. L.; Ezham, M.; Alauddin, Hafiza; Ainoon, O.

In: Malaysian Journal of Pathology, Vol. 33, No. 2, 12.2011, p. 95-100.

Research output: Contribution to journalArticle

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