Which mutations are detected in Factor V Leiden using PCR?

Factor V Leiden is associated with a specific mutation that affects the Factor V gene, leading to an increased risk of thrombosis. The primary mutation recognized in Factor V Leiden is the R506Q mutation, which is a substitution of arginine (R) with glutamine (Q) at position 506. This mutation disrupts the normal regulation of coagulation, making it resistant to inactivation by activated protein C.

When using PCR (Polymerase Chain Reaction) for the detection of this mutation, the test is designed specifically to identify the R506Q alteration. The other options, although they provide other forms of mutations or designations related to different genetic conditions, are not specifically relevant to Factor V Leiden. For example, A506G indicates a different type of substitution rather than the specific one found in Factor V Leiden, while C677T pertains to a distinct mutation in the methylene tetrahydrofolate reductase (MTHFR) gene, which is not related to Factor V.

Thus, the correct answer centers around the mutation (C) which refers to the Factor V Leiden condition itself, rather than specific nucleotide changes or different genetic markers. The test leverages PCR techniques to amplify and analyze the specific region of interest that contains the