A 29-year-old woman with family history of Huntington disease presents for genetic screening. Vital signs are stable (BP 118/76, HR 72, RR 14, Temp 37°C). She reports no current neurological symptoms or involuntary movements. Genetic counseling reveals three affected relatives. Her physician orders a laboratory method to detect and precisely size the expanded CAG trinucleotide repeat directly within her genomic DNA. Which technique best accomplishes this molecular analysis?
- A)Flow cytometry
- B)Western blot
- C)ELISA
- D)Northern blot
- E)Southern blotGABARITO
Explicação
Southern blotting is used to detect specific DNA sequences in a DNA sample and can be used to evaluate trinucleotide repeat expansion disorders. In this case, the test interrogates genomic DNA directly to assess the size of the CAG repeat. That makes Southern ... Ver explicação completa e trilha adaptativa →