Genomic DNA from a child with pyruvate kinase deficiency identifies a mutation in the 3'-splice site of intron 3. The mRNA from the child's reticulocytes is used to produce cDNA. Primers flanking the exon 3/exon 4 border are used to amplify this region from the cDNA (RT-PCR). The products are separated by electrophoresis and compared to the RT-PCR products from normal reticulocytes (control). The results are shown below: Control shows 84 bp band, Patient shows 78 bp band. Which of the following mechanisms best accounts for the results of the splice mutation?
- A)Trinucleotide expansion
- B)Exon skipping
- C)Missense mutation
- D)Two-codon deletionGABARITO
- E)Frameshift mutation
Explicação
The correct answer is E. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 1. Ver explicação completa e trilha adaptativa →