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Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population.

Authors
  • Yusoff, Surini1
  • Van Rostenberghe, Hans
  • Yusoff, Narazah M
  • Talib, Norlelawati A
  • Ramli, Noraida
  • Ismail, N Zainal A N
  • Ismail, W Pauzi W
  • Matsuo, Masafumi
  • Nishio, Hisahide
  • 1 Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kelantan, Malaysia. , (Malaysia)
Type
Published Article
Journal
Biology of the neonate
Publication Date
Jan 01, 2006
Volume
89
Issue
3
Pages
171–176
Identifiers
PMID: 16210851
Source
Medline
Language
English
License
Unknown

Abstract

Gilbert syndrome is caused by defects in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene. These mutations differ among different populations and many of them have been found to be genetic risk factors for the development of neonatal jaundice. The objective was to determine the frequencies of the following mutations in the UGT1A1 gene: A(TA)7TAA (the most common cause of Gilbert syndrome in Caucasians), G71R (more common in the Japanese and Taiwanese population), and G493R (described in a homozygous Malay woman with Crigler-Najjar syndrome type 2) in a group of Malaysian babies with hyperbilirubinemia and a group of normal controls. The GeneScan fragment analysis was used to detect the A(TA)7TAA variant. Mutation screening of both G71R and G493R was performed using denaturing high performance liquid chromatography. Fourteen out of fifty-five neonates with hyperbilirubinemia (25%) carried the A(TA)7TAA mutation (10 heterozygous, 4 homozygous). Seven out of fifty controls (14%) carried this mutation (6 heterozygous, 1 homozygous). The allelic frequencies for hyperbilirubinemia and control patients were 16 and 8%, respectively (p=0.20). Heterozygosity for the G71R mutation was almost equal among both groups (5.5% for hyperbilirubinemia patients and 6.0% for controls; p=0.61). One subject (1.8%) in the hyperbilirubinemia group and none of the controls were heterozygous for the G493R mutation (p=0.476). The A(TA)7TAA seems more common than the G71R and G493R mutations in the Malaysian population. Copyright (c) 2006 S. Karger AG, Basel.

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