Which mutations are detected in Factor V Leiden using PCR?

Factor V Leiden is a specific mutation in the prothrombin gene that leads to an increased risk of venous thromboembolism. The mutation is caused by a single nucleotide polymorphism (SNP) which results in an amino acid change, specifically from arginine (R) to glutamine (Q) at position 506 of the coagulation Factor V protein, denoted as R506Q.

PCR (polymerase chain reaction) can be used to amplify a specific segment of DNA that contains the mutation. During this process, specific primers designed to flank the mutation site enable the detection of the R506Q mutation. The FVL designation refers to the Factor V Leiden mutation, indicating its connection to the Factor V coagulation factor.

In the context of the options presented, "C. FVL" suitably captures the essence of the mutation associated with Factor V Leiden, as it is a shorthand commonly used in literature and clinical practice to refer to this particular mutation. This designation allows for the identification of the specific genetic alteration responsible for the condition and aids in the diagnosis and subsequent management of individuals at risk for thrombosis.

Understanding this terminology and the specifics of the mutation is crucial for practitioners in molecular biology and genetics, particularly in hematology