Question

a. What effects does the W1282X mutation have on CFTR gene, CFTR expression and CFTR
protein function? (4 marks, 4-6 sentences max.).
b. What effects does the p-enhancer mutation have on CFTR gene, CFTR expression and CFTR
function? (4 marks, 4-6 sentences max.)

Answer 1

a. W1282X mutation results in cystic fibrosis because it causes the cellular mechanism and converts the initial product of a gene mRNA into a functional protien to stop making cystic fibrosis TR protien.

Ptient with cystic fibrosis lack any functional CFTR protien because their genes that encoding with the mutant one.

Agents like gentamycin which enable to the protien generating mechanism to ignore such condition in some patients but not effective in all.

b.Structural and functional analysis of human gene exhibit cis regulatory elements influencing transcription.

These includes such as enhancers,silencers,insulators,etc. The cystic fibrosis transmembrane conductance regulator gene (CFTR) when mutated causing disease cystic fibrosis.

CFTR expression

CFTR cells expressed by epithelial cells.And also exhibit by neuron cell in cns system.

CFTR function

It providing instreuction for making protien CFTR (cystic fibrosis transmembrane conductance regulator)

these CFTR providing a channel across the cell membranes and produces mucus,saliva,tears etc.