JAK-2 protein helps in cell formation and growth. But when its consecutive gene get mutated, it increases the cells in number, especially, Blood cell counts, which starts clotting the blood with total dysfunction of the body...
JAK-2 protein helps in cell formation and growth. But when its consecutive gene get mutated, it increases the cells in number, especially, Blood cell counts, which starts clotting the blood with total dysfunction of the body forming a type of blood carcinoma. Here are the details of the gene, its mutation effects and its diagnosis technique.
What is JAK 2?
JAK 2 is a specific type of gene, which builds JAK 2 protein that forms Janus Kinase enzyme,responsible for somatic and bone marrow cell formation with their development.
Etymology of JAK 2
The full form of JAK 2 is Janus Kinase 2, which is the name of a God of Roman origin, Janus, who is the God of double-facing Door.
Location of JAK 2
In human chromosome number 9, the gene of Janus Kinase 2 is located and the protein produced by it,JAK 2 protein is found in cytoplasmic space and remains attached with the receptors on Proline-rich membrane.
How does JAK 2 works in normal human body?
JAK 2 gene is responsible for the production of JAK 2 protein, in normal condition of human body.
Mutation of JAK 2 and its effects on human body
JAK 2 Gene acts as the guide book for the production of JAK 2 enzyme, which decides the action, work and fate of the JAK 2 enzyme. So, any kind of change or mutation in the sequential base pair of JAK 2 gene, changes the whole work flow of JAK 2 enzyme.
Due to mutation in the sequence of JAK 2 gene, JAK 2 enzyme become hyperactive and causes excessive proliferation of cells, generally known as Megakaryocytes. These megakaryocytes lead to the accumulation of scar tissues in the bone marrow, which further causes Myelofibrosis.
Mutated JAK 2 causes hyper growth of blood cell constituents like, Red Blood cells, White Blood Cells, and Platelets. This disease has the clinical term of Myeloproliferative Neoplasm (MPN).
These clinically disturbed conditions lead to carcinogenesis in human body, which affects the body drastically.
When should you consult your physician?
If you are facing prolonged symptoms like
Then, you should definitely go for a medical consultation.
Treatment
Food and Drug Administration has approved Ruxolitinile drug, which checks the excessive functioning of JAK 2, thus emerging as a measure of the diseases caused by JAK 2 mutation.
For Free Consultation from the Doctor
Contact- Dr. Sonal Sharma,(MBBS, MD in Radiology)
Available: 24*7*365
Phone Number: +919212125996
Diagnosis of JAK 2 mutation in human body
JAK 2 V617F mutation results in the alteration of expression of gene and thus causing bone marrow disorders. Quantitative estimation of JAK 2 V617F defect or mutation in the nucleotide Sequence is possible by Real Time or Quantitative Polymerase Chain Reaction (PCR), and to optimize or detect the particular site of base mutations, sequence study is needful.
Sample collection
Sample should be whole blood, with EDTA
What is Quantitative-PCR?
Quantitative-PCR is a highly accurate and sensitive molecular biology technique to detect JAK-2 Mutated gene in sample, where we can detect any type of defect in the general standard gene sequence and the patient’s defective gene sequence.
Steps of Quantitative-PCR
- Extraction: Sample bloods are treated with chemicals to have extracted or separated DNA from them.
- Performing Polymerase Chain Reaction:Denaturation, Annealing, Extension or Amplification of the targeted gene of JAK-2 V617F.
- Repetition of the cycle: Total number of cycle for the process will be 40.
- Time of report: The report of diagnosis with Quantitative -PCR technique is 24 hours.
Obtaining result: The sensitivity and reproducibility of result is optimized using standards and the obtained record of amplification of concerned gene JAK-2 V617F, with whatever changes in the genetic base or mutation detected, will be analyzed by Molecular Biologist, will be followed by final medical advisory by Doctor.
Indication of Positive and Negative Result: Any kind of mutation in the concerned gene JAK-2 V617F Detected, will lead to positive result, and will be diagnosed as having Myeloproliferative Neoplasm (MPN), whereas, it will be considered negative for detection of no mutated gene sequence.
Quantitative-PCR test for JAK-2 V617F mutation detection at Ganesh Diagnostic and Imaging Centre
Ganesh Diagnostic and Imaging Centre, a renowned and leading medical diagnostic laboratory in India, is having the best and highest accurate Quantitative-PCR machine, to diagnose genetic mutation disorders in the most reliable way, reasonable price, and less time.
Book now!
Call at: 011-47-444-444, 011-47-333-333, 9811067479, 9810183948
Latest Quantitative-PCR machines used for diagnosis of Mutation in gene JAK-2 V617F are listed here:
- Truelab Quattro Real-Time Quantitative PCR Machine
- Genetix HT 96 Purifier Machine
- Genetix 32 purifier machine
- Truelab® Uno Dx Real Time Quantitative Micro Pcr Analyzer
Why to choose Ganesh Diagnostic and Imaging Centre for Real Time PCR Test to diagnose Molecular based disorders?
- NABL, NABH accredited laboratory, Specialized in Molecular Oncology tests
- 24×365 open for patients of any kind of test, with availability of expert staffs
- Free home collection of all types of samples by Expert technicians and phlebotomists.
- Master Technicians at all departments
- Doctorate (Ph.D. & MD) Scientific officers and In-charges at all departments
- 50% Discount at kind of tests of all molecular biology tests
- Online availabilityof reports for all kinds of tests.
- Extra-caring and helpful staffs
- Ambulance availability for patients 24×365 free of cost
- Free transport facility for patients who come from distant locations
Visit Ganesh Diagnostic and Imaging Centre, Pathology lab near me!
It is spread across the Delhi-NCR region to cater to your need.
Book your appointment now!
Frequently Asked Questions
1. What should be the food habits to avoid JAK-2 mutation?
People should eat fruits like Pomegranate, Blackberry, Strawberry, Boysenberry, Feijoa as they act as inhibitors of JAK-2.
2. What is JAK-2?
Janus Kinase-2 is a gene, which form JAK-2 protein responsible for the cell growth and proliferation.
3. Who discovered JAK-2?
JAK-2 was discovered by Tony Green, and he discovered the role of JAK-2 gene mutation in case of Myeloproliferative neoplasms (MPNs).
4. Is JAK-2 inherited?
Yes. According to newest studies, the mutation in JAK-2 gene can be hereditary to new generation offspring.
