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

Yusoff, Surini and Van Rostenberghe, Hans and Yusoff, Narazah M and A.Talib, Norlelawati and Ramli, Noraida and Ismail, N Zainal A N and Ismail, W Pauzi W and Matsuo, Masafumi and Nishio, Hisahide (2006) Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population. Biology of the neonate, 89 (3). pp. 171-6. ISSN 0006-3126

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Abstract

The A(TA)7TAA seems more common than the G71R and G493R mutations in the Malaysian population. BACKGROUND: 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. 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.

Item Type: Article (Journal)
Additional Information: 4667/12680
Uncontrolled Keywords: Neonatal jaundice ! Uridine diphosphate glucuronosyltransferase 1A1 ! Mutations ! UGT1A1 gene ! Gilbert syndrome ! Denaturing highperformance liquid chromatography ! GeneScan ! Malaysia
Subjects: R Medicine > R Medicine (General)
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): Kulliyyah of Medicine
Depositing User: Dr Norlelawati A.Talib
Date Deposited: 18 Jan 2012 16:08
Last Modified: 14 Sep 2015 11:45
URI: http://irep.iium.edu.my/id/eprint/12680

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