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Aminisatellite tandem repeat of human telomerase reverse transcriptase (htert mns16a) in sudanese patients with essential thrombocythaemia

Author: 
Hassan Kamal Hassan, Hiba -M-Haneen, Mohanned Eltayeb Aboalhasan, Elshazali Widaa Ali and Ibrahim Khider Ibrahim
Subject Area: 
Health Sciences
Abstract: 

Background: Essential Thrombocythaemia {E.T.} also known as essential thrombocytosis is a rare chronic blood disorder characterized by the overproduction of platelets by megakaryocytes in the bone marrow. It is one of four myeloproliferative disorders (disorders characterized by increased production of a particular line of blood cell). Telomerase is a reverse transcriptase enzyme that can elongate the TTAGGG repeats of telomeres in cells, where it is expressed to sustain cellular immortality. The components of telomerase include RNA subunit (human telomerase RNA), a reverse transcriptase catalytic subunit, human telomerase reverse transcriptase (hTERT) and other associated proteins. A minisatellite tandem repeat (MNS16A) located in the downstream of the human telomerase reverse transcriptase (hTERT) gene; recently identified and reported to have an effect on hTERT expression and telomerase activity. Objective: The purpose of this study was to determine the hTERT (MNS16A) variants among Sudanese patients with ET. Materials and Methods: A total of 50 patients diagnosed with ET attending to the radiation and isotope center of Khartoum (RICK) Sudan, and 50 healthy volunteer as control group were enrolled in this study. For molecular analysis genomic DNA was extracted from participant`s EDTA anticoagulated blood samples by salting out method and analyzed by allele specific PCR for determination of hTERT (MNS16A) variant. Results: A total of 50 patients diagnosed with ET attending to the (RICK) Sudan, their ages ranged between42-79 years (mean±SD: 55±15), They were correlated with 50 healthy volunteers as control group their ages ranged between 42-75 years (mean±SD: 60±8).42(84%) of patients were suffering from massive splenomegaly, four (8%) of patients were suffering from hepatomegally and also four (8%) of patient were suffering from splenohepatomegaly. The hTERT (MNS16A) genotypes271\271, 271\302 and 302\302were observed among studied patients while 271\302genotype was observed among the control subjects. Conclusion: In summary we conclude that the (hTERTMNS16A) 271\302 variant was significantly associated increased susceptibility for ET.

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