Best accounts for the results of the splice mutation

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Reference no: EM132510157

Genomic DNA from a child with pyruvate kinase defi¬ciency 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 electrophore¬sis and compared to the RT-PCR products from normal reticulocytes (control). The results are shown below. Which of the following mechanisms best accounts for the results of the splice mutation?

(A) Exon skipping

(B) Frameshift mutation

(C) Missense mutation

(D) Trinucleotide expansion

(E) Two-codon deletion

Reference no: EM132510157

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