What is the preferred specimen for molecular techniques for diagnosis of inherited mutations?
a. RNA extracted from peripheral mature red cells
b. RNA extracted from fresh serum
c. DNA extracted from peripheral blood white cells
d. DNA extracted from peripheral blood mature red cells
ANS: C
DNA extracted from peripheral blood (or bone marrow) white cells is the preferred specimen for molecular techniques when they are used to diagnose inherited disorders. In inherited disorders, the DNA from any cell could theoretically be used because the DNA at the molecular level will be identical regardless of cell origin. However, DNA from peripheral blood white cells is the easiest tissue to obtain. Mature red blood cells (RBCs) cannot be used because they do not have a nucleus and therefore do not have any DNA.
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