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

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 fo...

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Main Authors:	Yusoff, Surini, Van Rostenberghe, Hans, Yusoff, Narazah M, A.Talib, Norlelawati, Ramli, Noraida, Ismail, N Zainal A N, Ismail, W Pauzi W, Matsuo, Masafumi, Nishio, Hisahide
Format:	Article
Language:	English
Published:	2006
Subjects:	R Medicine (General)
Online Access:	http://irep.iium.edu.my/12680/ http://irep.iium.edu.my/12680/1/Surini_et.al.pdf

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recordtype	eprints
spelling	iium-126802015-09-14T03:45:36Z http://irep.iium.edu.my/12680/ Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population Yusoff, Surini Van Rostenberghe, Hans Yusoff, Narazah M A.Talib, Norlelawati Ramli, Noraida Ismail, N Zainal A N Ismail, W Pauzi W Matsuo, Masafumi Nishio, Hisahide R Medicine (General) 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. 2006 Article PeerReviewed application/pdf en http://irep.iium.edu.my/12680/1/Surini_et.al.pdf 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
repository_type	Digital Repository
institution_category	Local University
institution	International Islamic University Malaysia
building	IIUM Repository
collection	Online Access
language	English
topic	R Medicine (General)
spellingShingle	R Medicine (General) Yusoff, Surini Van Rostenberghe, Hans Yusoff, Narazah M A.Talib, Norlelawati Ramli, Noraida Ismail, N Zainal A N Ismail, W Pauzi W Matsuo, Masafumi Nishio, Hisahide Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population
description	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.
format	Article
author	Yusoff, Surini Van Rostenberghe, Hans Yusoff, Narazah M A.Talib, Norlelawati Ramli, Noraida Ismail, N Zainal A N Ismail, W Pauzi W Matsuo, Masafumi Nishio, Hisahide
author_facet	Yusoff, Surini Van Rostenberghe, Hans Yusoff, Narazah M A.Talib, Norlelawati Ramli, Noraida Ismail, N Zainal A N Ismail, W Pauzi W Matsuo, Masafumi Nishio, Hisahide
author_sort	Yusoff, Surini
title	Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population
title_short	Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population
title_full	Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population
title_fullStr	Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population
title_full_unstemmed	Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population
title_sort	frequencies of a(ta)7taa, g71r, and g493r mutations of the ugt1a1 gene in the malaysian population
publishDate	2006
url	http://irep.iium.edu.my/12680/ http://irep.iium.edu.my/12680/1/Surini_et.al.pdf
first_indexed	2023-09-18T20:21:49Z
last_indexed	2023-09-18T20:21:49Z
_version_	1777408157273817088

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

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