A patient with suspected cystic fibrosis has a point mutation that abolishes a restriction enzyme recognition site. Which technique would best identify this specific mutation by analyzing the size of DNA fragments produced after enzymatic digestion?

• A ELISA
• B qRT-PCR
• C FISH
• D RFLP analysis ✓

Explanation

RFLP analysis uses restriction enzymes to cut DNA into fragments. D mutation abolishing a restriction site alters fragment sizes, which are visualized on a gel. qRT-PCR quantifies RNA expression levels. FISH detects chromosomal abnormalities, and ELISA detects proteins.

Reference: Thompson and Thompson Genetics in Medicine, 8th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.