Detection of Methylenetetrahydrofolate Redactase Gene Polymorphisms among Sudanese Patients with Type 2

Abstract

background: Type 2 diabetes mellitus (T2DM) is a major public health problem that not only affects individual life quality, but also increases social economic burden.   The pointed of this research to detect MTHFR gene polymorphisms in Sudanese patients with type 2 diabetes mellitus.

Materials and Methods: This was case control study conducted at the NCNS Khartoum, Sudan during the period of August to December, 2022.  From each participant 3 ml of venous blood was collected in sterile containers with Ethylene Diamine Tetra-acetic Acid (EDTA). Genomic DNA was isolated from peripheral blood leukocytes by the DNA extraction kits. The MTHFR gene was amplified using conventional PCR. PCR products were sent for sequencing to Macro gene Europe Laboratory.

Results: MTHFR gene was detected in 94% of the patients and 64% of controls. Sanger sequence revealed tow substitution polymorphisms C > T and A > C.  Mutation taster software confirmed the presence of the polymorphisms, and emphasized the tow polymorphisms are single Base Exchange polymorphism and changed the amino acid sequences.  

Conclusion: In the Sudanese patients with T2DM tow single base exchange polymorphisms were detected in the MTHFR gene (C>T ID rs 1801133 and A>C), according to the analysis the two polymorphisms change the amino acid sequence and affected in the normal gene function this increased the possibility of early disease complications.0