Global Journal of Genetics and Gene Therapy

Global Journal of Genetics and Gene Therapy - Volume 1

Missense Mutation Janus Kinase 2-V617F is Absent in Acute Myeloid Leukemia Patients of Pakistan

Published on: 18 January 2016

Pages: 01-05

Afia Muhammad Akram1, Ahmed Mukhtar Khalid1, SumyieaRiaz Malik1, Zafar Iqbal2, Muhammad Akram3, Nadia Sajid4 and Haroonur Rasheed5

1Department of Biotechnology, University of Sargodha, Sargodha, Pakistan; 2Medical Genetics/Clinical Laboratory Sciences, CoAMS, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, National Guard- Health Affairs, Riyadh, Saudi Arabia; 3Department of Oncology, Jinnah Hospital Lahore, Pakistan; 4Hematology/Oncology Division, Institute of Nuclear Medicine and Research, Lahore, Pakistan and 5Department of Oncology, DHQ Hospital Sargodha, Pakistan


The somatic gain of function mutation V617F in Janus kinase 2 has been the point of interest in this study. This mutant allele is reported to be involved in a number of chronic forms of myeloid anomalies and rarely in acute myeloid leukemia (AML). We designed our study to identify this point mutation in AML patients (n=43) to understand its association with disease progression. We implemented allele specific oligonucleotide polymerase chain reaction for amplification of wild type and mutant allele. No individual was found positive to harbor the V617F mutation. This shows that many other known causes can be responsible for AML disease progression, but JAK2 V617F is a rare chance. The overall and event free survival rates of our patients were 59.06% and 23% respectively, after a follow up time of 18 months.

Keywords: Jak2 domain, V617F mutation, Acute myeloid leukemia (AML).

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