Abstract
FREQUENCY OF MPL (W515L)GENE MUTATION AMONG SUDANESE PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA

Shaza Mahmoud Abdelrahman, Hiba badr Eldin Khalil, Nasr Eldeen Ali Mohammed*

ABSTRACT

Background; Recently Myeloproliferative leukemia virus Oncogene MPL (W515L) mutations were described in patients with Myeloproliferative disorders including Essential Thrombocythemia (ET) in which there is elevation in the numbers of megakaryocytic progenitor cells.The present study aimed to detect the frequency of MPL (W515L) mutation gene among Sudanese patients with ET.Materials and Methods; A cross sectional study was included 56 Sudanese patients diagnosed by Essential Thrombocythemia, 24 (42.9%) were males and 32 (57.1%) were females;their mean age was 53 years. DNA was extracted from peripheral blood leukocytes by using salting out methods and the presence of MPL (W515L) mutations were analyzed by using allele specific polymerase chain reaction.Data was analyzed by using statistical packing for social sciences program (SPSS), version 2014. Results and Conclusion;The prevalence of MPL (W515L) mutation in Sudanese patient with essential thrombocythemia was 7.1%.The frequency of MPL (W515L) mutation in Sudanese patients is similar to that published in literature. To our knowledge, this was the first study has been done to detect the frequency of MPL (W515L) mutation in Sudanese patients.

Keywords: Myeloprolifrtive neoplasm, Essential Thrombocythemia, MPL W515L, JAK2V617F.


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