Question 1
A substitution at the final nucleotide of exon 6 is synonymous when assessed against the reference coding sequence. Patient cDNA sequencing nevertheless shows exon 5 joined directly to exon 7. Genomic testing confirms that exon 6 has normal copy number. Which molecular mechanism reconciles the DNA and RNA findings?
Show answer & explanation
Correct answer: C - Disruption of exon recognition during pre-mRNA splicing