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Note : To answer this question, you will need to understand all the steps of tra

ID: 97026 • Letter: N

Question

Note: To answer this question, you will need to understand all the steps of transcription and translation; it is recommended that you draw yourself a figure that organizes the various numbers provided in the problem.
Cystic fibrosis is an autosomal recessive disease in which the cystic fibrosis transmembrane conductance regulator (CFTR) protein is abnormal. The transcribed portion of the cystic fibrosis gene spans about 250,000 base pairs of DNA. The CFTR protein, with 1,480 amino acids, is translated from an mRNA of about 6,500 bases. The most common mutation in this gene results in a protein that is missing a phenylalanine at position 508 (F508).

How many nucleotides are translated in the CFTR protein? (please explain)

With regard to the F508 mutation: At the DNA level, what specific alteration has occurred? Show the exact change in sequence. (please explain)

Explanation / Answer

Size of wild type protein is 1480 aa, for each amino acid 3 nucleotides are required,   then no of nucleotides translated is 4440.

At DNA level there is a deletion of TTT or TTC codon at position 508 occurred which causes the deletion of phenylalanine at position 508.

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