The Cystic Fibrosis Trans membrane Conductance Regulator (CFTR) protein is a chl

Question

The Cystic Fibrosis Trans membrane Conductance Regulator (CFTR) protein is a chloride (Cl-) facilitated transporter made up of 1480 amino acids and whose gene is located on the long arm of chromosome 7. In healthy humans, the protein is found in the plasma membranes of the cells that line the lungs, allowing the movement of Cl-. In people with cystic fibrosis, no functional CFTR is made. a. The CFTR gene is approximately 82, 500 bp long. However, CFTR mRNA isolated from the cytoplasm is only 6, 500 nucleotides in length. Please explain what happened to the missing 76,000 bp in the NORMAL gene. b. A variety of mutations can lead to a defective CFTR protein and the disease. For each listed mutation, describe why this leads to a nonfunctional protein. i. Insertion of a U nucleotide at position 3905. ii. Codon 542 is changed from GGA to UGA.

Explanation / Answer

every DNA CONSISTS OF A SILENT AREA THAT MEANS NOT CARRY ANY GENETIC MESSAGE that part is called intron and the part carry genetic information is called exon...so in that case introns get excised/spliced and exons form the gene...that's why there is a difference of nnucleotides number

b)I) insertion of "u" leads to total change of that original frame upon which a protein can get translated that's why there is defective formation of the protein

ii)UGA is a stop codon it can't sense any protein & protein synthesis process get terminated & that's why there defect in formation in that particular protein

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