A patient is suspected to have a point mutation in the beta-globin gene that abolishes a DdeI restriction enzyme recognition site. Which molecular technique would best confirm this mutation?
- A Northern blotting
- B RFLP analysis ✓
- C RT-PCR
- D ELISA
Correct answer: B. RFLP analysis
Explanation
RFLP (Restriction Fragment Length Polymorphism) analysis detects mutations that alter restriction enzyme recognition sites. DNA is digested with the specific enzyme, electrophoresed, and probed. Loss or gain of a restriction site changes fragment sizes. Northern blotting detects RNA, RT-PCR amplifies RNA, and ELISA detects proteins.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.