Scientists were interested in examining the gene ABC123 in patients with disease

Question

Scientists were interested in examining the gene ABC123 in patients with disease ABC. Scientists found that the ABC123 mRNA was the normal size but was at reduced levels. ABC123 protein was the normal size but was also at reduced levels in the cell. Based on this information, what mutation most likely would lead to disease ABC? a mutation in an enhancer element 500 bp upstream of the transcription start site of ABC123 a frameshift mutation in the last ABC123 exon a nonsense mutation in an ABC123 exon a missense mutation in an ABC123 exon O Submit Request Answer

Explanation / Answer

The correct answer is a mutation in an enhancer element 500 bp upstream of the transcription start site of ABC123. Enhancer elements are the DNA regulatory sequences which help in enhnaced transcription of associated gene sequences. Other options in the questions will cause change in the protein sequence. So, option a mutation in an enhancer element 500 bp upstream of the transcription start site of ABC123 is correct.

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