Characterization of glucokinase polymorphisms associated with Maturity-Onset Diabetes of the Young (MODY2) in Jordanian population |
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Authors: | Fawzu Al-Sheyab Emran Khamaiseh Marwan Abu Halaweh Raida W Khalil |
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Institution: | 1.Genetic Engineering and Biotechnology Department,Jordan University of Science and Technology,Irbid,Jordan;2.Biotechnology and Genetic Engineering Department,Philadelphia University,Irbid,Jordan |
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Abstract: | Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of Diabetes Mellitus (DM) characterized by an autosomal dominant
inheritance, onset usually before 25 years of age and a primary defect in glucose-stimulated insulin secretion, Glucokinase
(GCK) acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion. The mutation in the gene encoding
GCK results in enzyme inactivation cause MODY2. Functional studies of naturally occurring GCK mutations associated with hyperglycaemia
provide further insight into the biochemical basis of glucose sensor regulation. In this study 100 diabetic Jordanian patients
with MODY2 phenotype and 150 Normal control subjects were screened for the presence of GCK gene mutations including the missense
mutations at position Thr228Ala in exon 7, Gly299Arg in exon 8 and nonsense mutation Ser383Ter in exon 9, utilizing polymerase
chain reaction with restriction fragment length polymorphism (PCR-RFLP) analysis. The results shows no Thr228Ala, Gly299Arg
and Ser383Ter mutations were detected in both groups, which was differ from the results obtained for Italian and Caucasian
from the Oxford region in UK MODY2 patients. Our data indicated that the previously studied mutations in Italian and Caucasian
patients in the GCK gene are not common in MODY Jordanian population, suggesting a racial difference can be found in the frequency
of the GCK polymorphism. |
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