Chronic myeloid leukaemia (CML) is a kind of cancer that affects the white blood cells and resort to progress slowly through many years. It’s occur at any age, but is most common in older (60-65 years) of age. This is a cross sectional study aimed to detect MTHFR gene polymorphism (C677T) among Sudanese patients diagnosed with Chronic Myeloid Leukaemia and conducted at the research laboratory of the national center of neurological sciences (NCNS), Khartoum, Sudan.50 patients with Chronic Myeloid Leukemia (CML) diagnosed as BCR-ABL positive by RT-PCR used as a cases and 50 apparently healthy individuals as a control. A 5 ml of blood samples were collected in EDTA anticoagulant container for DNA Extraction and white blood cells count, hemoglobin level and platelets count. Genotyping of the MTHFR was carried out using PCR technique and the SNP (C677T) confirmed by sequencing a subset of samples. The results were analyzed using bioinformatics tools. The results showed; the most affected age group in the patients was 51-60 years followed by 41-50 years which constituted 32% and 30%, respectively. The hematological findings revealed that, the mean of TWBCs was 47.4, HB was 11.9 for patients, 7.2 and 14.1 respectively for control group (P = 0.000). PLT was 313.5 for patients and 287.5 for control group (P = 0.187). MTHFR gene was detected in the all patients (198pb) by the PCR, Sequence results were aligned with the reference sequence of MTHFR gene, the polymorphic C >T was found to be matched with the registered mutation in NCBI data base. This study provides the first evidence for associations of MTHFR gene polymorphism with the risk of chronic myeloid leukemia in Sudanese patients. The C >T genotype of the rs 677 polymorphism in MTHFR gene may have a promoting effect on chronic myeloid leukemia.
Keywords: Chronic myeloid leukaemia (CML), DNA, PCR, RT-PCR, MTHFR
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