Abstract
ASSOCIATION OF HUMAN TELOMERASE REVERSE TRANSCRIPTASE (HTERT) MNS16A WITH CHRONIC MYELOID LEUKAEMIA IN SUDANESE PATIENTS

Chronic myelogenousleukaemia (CML) is a malignant disorder characterized by leukocytosis, with an increase in mature and immature cells of the granulocytic series; Thrombocytosis is a common feature. An abnormal chromosome known as the Philadelphia chromosome (ph+ve) may be found in cells of the malignant proliferating clone.CML is primarily a disease of adults, although it has been reported at all ages. Telomerase reverse transcriptsae (abbreviated to TERT or HTERT in humans), a telomere is nucleoprotein structure consisting of repeated TTAGGG sequences and associated proteins, from protecting caps on human chromosome ends, and are essential to maintenance of genomic stability and integrity. A minisatellite tandem repeat (MNS16A) located in the downstream of h TERT has been identified and reported to have effect on telomerase activity and hTERT expression. The purpose of the percent study was to study the association of hTERT MNS16A variant in with CML in Sudanese patients. This case control study was carried out in Radiation and Isotopes Centre of Khartoum Sudan, A total of 50 CML patients and 30 healthy volunteers as control group. This study was aimed to study the hTERT MNS16A variant in Sudanese patients with CML. It was determined by using allele specific PCR. A total of 50 patients from RICK, diagnosed with chronic myelocyticleukaemia, 31(81%) of them were males and 19 (19%) were females, 50 healthy voulnters age and gender matched were enrolled as control. From the clinical data we reported that 35 (85%) of patients were suffering from splenomegaly, 10(10%) patients were suffering from hepatomegaly and 5(5%) patients were suffering from hepatomegaly. Three genotypes of hTERT MNS16A variants was found in the studied patients (302/271, 302 / 302 and 271/ 271). There is significant correlation b/w CML and HTERT gene (MNS16A)