Name and compare two molecular methods used to detect mutations associated with sickle cell disease

What will be an ideal response?


Answer: Two molecular methods that detect the mutation associated with sickle cell disease are Southern blot analysis and PCR. Southern blot: Restriction endonucleases cut the chromosomal DNA of the suspected sickle patient at a specific nucleotide base to produce smaller fragments of DNA. A probe specific for the gene responsible for SCD (HBB gene) is applied and targeted to the specific sequence. If the aberrant gene is present, it will show up as a band on 2D-gel. (Qualitative: present or absent.)
PCR: Similar procedure to Southern blot analysis, but at the end, the targeted DNA sequence is amplified a billionfold.

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