Abstract | BACKGROUND: OBJECTIVES: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: The A(TA)7TAA seems more common than the G71R and G493R mutations in the Malaysian population.
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Authors | Surini Yusoff, Hans Van Rostenberghe, Narazah M Yusoff, Norlelawati A Talib, Noraida Ramli, N Zainal A N Ismail, W Pauzi W Ismail, Masafumi Matsuo, Hisahide Nishio |
Journal | Biology of the neonate
(Biol Neonate)
Vol. 89
Issue 3
Pg. 171-6
( 2006)
ISSN: 0006-3126 [Print] Switzerland |
PMID | 16210851
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright (c) 2006 S. Karger AG, Basel. |
Chemical References |
- UGT1A1 enzyme
- Glucuronosyltransferase
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Topics |
- Chromatography, High Pressure Liquid
- Gene Frequency
- Gilbert Disease
(genetics)
- Glucuronosyltransferase
(genetics)
- Heterozygote
- Humans
- Hyperbilirubinemia, Neonatal
(genetics)
- Infant, Newborn
- Malaysia
(epidemiology)
- Mutation
- Promoter Regions, Genetic
(genetics)
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