Bilirubin - Uridine Diphosphate Glucuronosyltransferase (Ugt1a1) Gene Mutations Among Newborn Babies In The Malay Population In Kelantan With Hyperbilirubinaemia

• Main Author: Yusoff, Surini
• Format: Thesis
• Language: English
• Published: 2005
• Subjects: R735-854 Medical education. Medical schools. Research
• Online Access: http://eprints.usm.my/31397/1/SURINI_YUSOFF.pdf; http://eprints.usm.my/31397/

Sind rom Gilbert berpunca daripada keabnormalan pada gen uridine diphosphate-glucuronosyltransferase 1A 1 (UGT1A 1) yang disebabkan oleh mutasi. Mutasi-mutasi ini berbeza bagi setiap populasi dan kebanyakannya menjadi faktor asas bagi jaundis di kalangan neonat. Objektif kajian ini adalah untuk menentukan frekuensi mutasi-mutasi berikut pada gen UGT1A 1: A(TAh T AA (penyebab yang lazim bagi sind rom Gilbert di kalangan orang-orang Kaukasia), G71 R (penyebab utama pada populasi Jepun dan Taiwan) dan G493R (dijumpai pada wanita Melayu yang membawa mutasi homozigus bagi sind rom Crigler-Najjar jenis ke-2) di kalangan bayi - bayi Melayu di Kelantan yang mengalami hiperbilirubinemia dan juga di kalangan bayi - bayi normal sebagai kawalan serta membandingkan frekuensi mutasi-mutasi ini di antara kedua-dua kumpulan bayi tersebut. 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.