Point mutations in the human genome that result in addition or deletion of a recognition site for a restriction endonuclease can most easily be detected by

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Restriction fragment length polymorphism (RFLP) analysis involves detecting specific sequences in DNA by using restriction enzymes, which cut DNA at specific recognition sites. Changes in these sites due to point mutations can alter the pattern of DNA fragments produced, which can then be detected. Southern blot analysis is a technique used to detect specific DNA sequences in DNA samples by transferring them onto a membrane and then probing them with a specific DNA probe. When used together, these methods can effectively detect point mutations that result in the addition or deletion of restriction enzyme recognition sites, as RFLP analysis reveals changes in the DNA fragment pattern, and Southern blotting allows for the visualization of these changes.

Point Mutations in the Human Genome That Result in Addition