Glucuronosyltransferase (Ugt1a1) Gene Mutations Among Newborn Babies In The Malay Population In Kelantan With Hyperbilirubinaemia
| dc.contributor.author | Yusoff, Surini | |
| dc.date.accessioned | 2016-09-02T01:31:11Z | |
| dc.date.available | 2016-09-02T01:31:11Z | |
| dc.date.issued | 2005-09 | |
| dc.description.abstract | Gilbert syndrome is caused by defects in the uridine diphosphateglucuronosyltransferase 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. The objectives of this study were to determine the frequencies of the following mutations in the UGT1A1 gene: A(TA}yTAA (the most common cause of Gilbert syndrome in Caucasians), G71 R (more common in the Japanese and Taiwanese populations) and G493R (described in a homozygous Malay woman with Crigler-Najjar syndrome type 2) in a group of Malay babies in Kelantan with hyperbilirubinaemia and a group of normal controls and to compare the frequencies of these mutations between these group. The GeneScan fragment analysis was used to detect the A(TA}yTAA variant. Mutation screening of both G71R and G493R was performed using denaturing high performance liquid chromatography (DHPLC). Fourteen out of 55 neonates with hyperbilirubinaemia (25%) carried the A(TA}yTAA mutation (10 heterozygous, 4 homozygous). Seven out of 50 controls (14%) carried the mutation (6 heterozygous, 1 homozygous). The allelic frequencies for hyperbilirubinaemia and control patients were 16% and 8% respectively (p = 0.20). Heterozygosity for the G71 R mutation was almost equal among both groups (5.5% for hyperbilirubinaemia patients and 6.0% for controls; p = 0.61). One subject (1.8%) in the hyperbilirubinaemia group and none of the controls were heterozygous for the G493R mutation (p = 0.476). In conclusion, the A(TA)?TAA seems more common than the G71 Rand G493R mutations in the Malay population in Kelantan. Even though the allelic frequency of the A(TAhTAA mutation in the hyperbilirubinaemia group was twice that of the non hyperbilirubinaemia group, the difference did not reach statistical significance. Keywords: Neonatal jaundice; UGT1A1 gene; Gilbert syndrome; denaturing high performance liquid chromatography; GeneScan | en_US |
| dc.identifier.uri | http://hdl.handle.net/123456789/2435 | |
| dc.subject | Medical | en_US |
| dc.subject | Science | en_US |
| dc.title | Glucuronosyltransferase (Ugt1a1) Gene Mutations Among Newborn Babies In The Malay Population In Kelantan With Hyperbilirubinaemia | en_US |
| dc.type | Thesis | en_US |