A patient is tested for the presence of the factor V Leiden mutation by PCR-RFLP. The mutation forms a recognition site for the MnlI restriction enzyme. Isolated DNA is amplified by PCR, and the resulting amplicons are cut with MnlI and separated by gel electrophoresis. Two bands are seen in the lane loaded with the patient's sample, one at 153 bp and the other at 67 bp. One band (220 bp) is seen in the normal control. Which of the following is the correct interpretation of these results?
A) Normal
B) Heterozygous mutation
C) Homozygous mutation
D) Wrong target and method performed for this disease
Correct Answer:
Verified
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