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What mutation is detected in 95% of pts with polycythemia vera?

User Ircbarros
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Final answer:

The JAK2V617F mutation is detected in 95% of patients with polycythemia vera. It leads to the abnormal proliferation of red blood cells in the bone marrow.

Step-by-step explanation:

The mutation that is detected in 95% of patients with polycythemia vera is JAK2V617F mutation.

Polycythemia vera is a rare bone marrow disease characterized by the overproduction of red blood cells. The JAK2V617F mutation occurs in the JAK2 gene, which plays a role in regulating blood cell production. This mutation leads to the abnormal proliferation of red blood cells, causing polycythemia vera.

Let's take an example to understand how this mutation is detected. Polymerase chain reaction (PCR) is used to amplify and detect the JAK2V617F mutation. The DNA from the patient's blood sample is isolated and subjected to PCR with specific primers that target the mutated region of the JAK2 gene. If the mutation is present, the PCR amplification will yield a specific DNA fragment that can be visualized and confirmed.

User Zafer Onay
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