Aqsa Zaman, BS Zoology, 2015-2019, Supervised by Dr. Afifa Muhammad Akram
Detection of jak2 exon 14 mutations and their prognostic relevance in acute myeloid leukemia (AML) patients from Pakistan
/ Aqsa Zaman
- Lahore : Division of Science & Technology, University of Education, 2019
- xv, 62 p. CD
Leukemia is a malignancy of both blood and bone marrow followed by uncontrolled proliferation of transformed hematopoietic cells. Acute myeloid leukemia (AML) is a group of hematological diseases, phenotypic and genetically heterogeneous, characterized by abnormal accumulation of blast cells in the bone marrows and peripheral blood. JAK2 kinase is a member of a family of tyrosine kinases involved in cytokine receptor signaling. JAKs contain many domains and kinase domain is vital for JAK activity, since it add phosphate groups to proteins. JAK2 exon 14 is sequenced and analyzed for the study of its role and prognostic significance in Pakistani AML patients. The main objective of this research is to put emphasis on different clinical and hematological parameters, their association with mutation in JAK2 gene exon 14 and its prognostic significance. In present study, all sequences are analyzed by polymerase chain reaction (PCR), Sanger sequencing techniques, Geneious prime (2019) and different statistical tests. Out of 31 AML patients, 8 show mutations in exon 14 of JAK 2 gene with amino substitution of valine to glutamic acid. Only normal spleen size shows significant association in current study having p value less than 0.05. Prognostic implications of JAK2 are still unclear. These findings helped us to study prognosis of JAK2 and its association with hematological and clinical parameters among AML patients.