| Research Title |
FREQUENCY OF 211G>A MUTATION OF THE UGT1A1 GENE IN NORTHEAST THAI NEONATES WITH AND WITHOUT G-6-PD DEFICIENCY |
| Date of Distribution |
24 August 2013 |
| Conference |
| Title of the Conference |
The International Congress of Pediatrics 2013 (ICP) |
| Organiser |
The International Pediatric Association (IPA) |
| Conference Place |
Melbourne Convention and Exhibition Centre |
| Province/State |
Melbourne, Australia |
| Conference Date |
24 August 2013 |
| To |
29 August 2013 |
| Proceeding Paper |
| Volume |
2013 |
| Issue |
0 |
| Page |
149 |
| Editors/edition/publisher |
|
| Abstract |
Aims: The increasing the incidence of neonatal hyperbilirubinemia in neonates who have glucose-6-phosphate dehydrogenase (G-6-PD) deficiency with polymorphisms of the uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1) have been reported. In Thailand, G-6-PD deficiency is one of the common causes of neonatal hyperbilirubinemia. However, data on the co-expression of G-6-PD deficiency and UGT1A1 polymorphism in neonates in the northeastern part of Thailand remains unknown. The aim of the study was to determine the frequency of 211G>A mutation of the UGT1A1 gene in neonates with and without G-6-PD deficiency in the northeast Thailand.
Methods: One hundred and twenty G-6-PD deficient, confirmed by molecular level and one hundred and six G-6-PD normal neonates were examined for UGT1A1 211G>A mutations. Mutations for both UGT1A1 211G>A and G-6-PD were examined by PCR RFLP.
Results: Twenty nine G-6-PD deficiency neonates (24.2%) carried the UGT1A1 211G>A mutation (27 heterozygous, 2 homozygous). Seven G-6-PD normal neonates (6.6%) carried this mutation (7 heterozygous). The allelic frequencies for G-6-PD deficient and G-6-PD normal were 0.13 and 0.03, respectively (p =0.0001).
Conclusions: The frequency of 211G>A mutation of the UGT1A1 gene are more common in G-6-PD deficient than the G-6-PD normal neonates in the northeast Thailand.
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| Author |
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| Peer Review Status |
ไม่มีผู้ประเมินอิสระ |
| Level of Conference |
นานาชาติ |
| Type of Proceeding |
Abstract |
| Type of Presentation |
Poster |
| Part of thesis |
true |
| Presentation awarding |
false |
| Attach file |
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| Citation |
0
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Publication
Journal Publication
ไทย