Abstract:
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of non-insulin dependent diabetes mellitus (NIDDM), it’s a heterogeneous group of disorders characterized by dysfunction of beta-cells, and usually referred to monogenic forms of diabetes mellitus to distinguish them from the common types of disease such as type 1 or type 2 diabetes. (M. Vaxillaire et al. 2008 (.Aim: The aim of this study was to examine the prevalence and nature of mutations in GCK gene among Sudanese families.
Exons 7were screened, which are specific for pancreatic glucokinase, mutations at positions 682A>G, p.T228A; in 160 subjects (80 patients suspected to have MODY2 and 80 healthy controls without family history of diabetes mellitus). By using polymerase chain reaction (PCR) the target part of GCK gene was amplified, the amplified regions were digested by using restriction enzymes: BstUI and electrophoresed on agarose gel. Results of mutation were screened using restriction fragment length polymorphism and confirm by using DNA sequencing.
The results showed that, there was no any association of these mutations in Sudanese suspected MODY2 patients or in healthy controls. On the other hand during analysis of the DNA sequences observed three synonymous mutations, in one family that may have significant effect on the protein function
In conclusion, the study indicates that mutations in GCK/MODY2 at position 682A>G, p.T228A is not detected in Sudanese families
