| Abstract |
Frequency of UDP-Glucuronosyltransferase 1 (UGT1A1) gene promoter in northeast Thai neonates
Khemtonglang N*, Kitcharoen S**, Dechyothin S* , Kleesuk C*** and Kiatchoosakun,MD****
*Faculty of Graduates School, Khon Kaen University, Khon Kaen, Thailand
**Department of Clinical Microscopy, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand
*** Diagnostic Microscopy Unit, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
****Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
Abstract
introduction: The uridine diphospho (UDP) glucuronosyltransferase 1A1 (UGT1A1) gene encodes bilirubin UDP glucuronosyltransferase (UGT1A1), which is the enzyme responsible for bilirubin glucuronidation. The promoter region of the UGT1A1 gene contains a run of thymine-adenine (TA) repeats, usually six (TA)6. Homozygous A(TA)7TAA has been found to be an important risk factor for neonatal hyperbilirubinemia. The frequency of the (TA)7 allele in neonates in the northeastern part of Thailand remains unknown. The purpose of the study was to determine the frequency of (TA)7 allele in the northeastern neonates. Methods: Three hundred and twenty neonates were enrolled and the number of (TA)n was assessed by polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE). Results: The UGT1A1 (TA)n genotype frequencies were 80.31% (257/320), 19.38% (62/320), and 0.31% (1/320) for (TA)6/(TA)6 (wild type), (TA)6/(TA)7 (heterozygous) and (TA)7/(TA)7 (homozygous), respectively. The (TA)6 and (TA)7 alleles among three hundred and twenty neonates were 0.9 and 0.1, respectively. Conclusions: The low frequency of (TA)7 alleles in neonates in the northeastern part of Thailand confirm that this polymorphism is low in Southeast Asian population.
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Publication
Journal Publication
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