Yusoff, Surini
(2005)
Bilirubin - Uridine Diphosphate
Glucuronosyltransferase (Ugt1a1)
Gene Mutations Among Newborn Babies
In The Malay Population In Kelantan
With Hyperbilirubinaemia.
Masters thesis, Universiti Sains Malaysia.
Abstract
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.
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