An Ashkenazi Jewish 8-year-old kid is brought to the clinic after experiencing decreased pain sensitivity, poor tear formation, and orthostatic hypotension. Because of the patient's symptoms and family history, familial dysautonomia is suspected. The loss of function of the IKAP protein, which is required for the growth and survival of sensory and autonomic neurons, causes this illness. In the typical gene sequence given below, a single nucleotide substitution causes a guanine residue to be replaced by adenine at the highlighted location. Exon sequences are represented by capital letters, whereas intron sequences are represented by lowercase letters. Which of the following is the most likely effect of this mutation?

Question

An Ashkenazi Jewish 8-year-old kid is brought to the clinic after experiencing decreased pain sensitivity, poor tear formation, and orthostatic hypotension. Because of the patient's symptoms and family history, familial dysautonomia is suspected. The loss of function of the IKAP protein, which is required for the growth and survival of sensory and autonomic neurons, causes this illness. In the typical gene sequence given below, a single nucleotide substitution causes a guanine residue to be replaced by adenine at the highlighted location. Exon sequences are represented by capital letters, whereas intron sequences are represented by lowercase letters.  Which of the following is the most likely effect of this mutation?

Quizplus · Accepted Answer

Eductional Objective: Spliceosomes execute splicing by removing introns containing GU at the 5' splice site and AG at the 3' splice site. Mutations at splice sites can result in the incorrect removal of exons and the retention of introns, resulting in the production of defective proteins.

An Ashkenazi Jewish 8-Year-Old Kid Is Brought to the Clinic