Which CFTR mutation is the most prevalent among patients with Cystic Fibrosis?

Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It's an inherited disease caused by a defective gene that can be passed from generation to generation. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices.
The ΔF508 mutation is a deletion of three nucleotides that results in the loss of the phenylalanine at the 508th position in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. This mutation leads to the production of a CFTR protein that is misfolded. As a result, the protein is not properly transported to the cell surface, where it is needed to help control the movement of salt and water in and out of cells. This leads to the thick and sticky mucus characteristic of cystic fibrosis. The ΔF508 mutation is the most common cause of cystic fibrosis worldwide, accounting for about 70% of CFTR mutations in patients globally. Other mutations listed, such as G551D, R117H, and N1303K, are also found in the CFTR gene of cystic fibrosis patients but are much less common compared to ΔF508.
Problem:
Which CFTR mutation is the most prevalent among patients with Cystic Fibrosis?
A) G551D
B) R117H
C) ΔF508
D) N1303K

[@GeneticsLessons]

Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It's an inherited disease caused by a defective gene that can be passed from generation to generation. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices.
The ΔF508 mutation is a deletion of three nucleotides that results in the loss of the phenylalanine at the 508th position in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. This mutation leads to the production of a CFTR protein that is misfolded. As a result, the protein is not properly transported to the cell surface, where it is needed to help control the movement of salt and water in and out of cells. This leads to the thick and sticky mucus characteristic of cystic fibrosis. The ΔF508 mutation is the most common cause of cystic fibrosis worldwide, accounting for about 70% of CFTR mutations in patients globally. Other mutations listed, such as G551D, R117H, and N1303K, are also found in the CFTR gene of cystic fibrosis patients but are much less common compared to ΔF508.

[@studiouspsycho1516]

Nice information ✨

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[@studiouspsycho1516]

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[@GeneticsLessons]

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[@citybricksofficial]

Sir, please solve this question in one of your videos including the step.
Q1
The number of chromosomes present in a human skin cell is 4 more than the number of chromosome present in the sporogenous cell of a Wheat plant.Also the number of chromosomes in the endosperm of a wheat plant is 3 more than the number of chromosomes present in the cheek cells of a Goat. The number of chromosomes in the ovum of a goat is 2 less than the number of chromosomes present in a female European honey bee's skin cell. The Primary spermatocyte of a elephant has 40 chromosomes more than that of the chromosomes present in the photoreceptor cells of Male European honey bee.If the number of chromosome present in a root cell of Arabidopsis Thaliana is 4 less than the half number of chromosomes present in the spermatozoa of Elephant then determine the number of Chromosome present in the male gamete of Arabidopsis Thaliana.

[@GeneticsLessons]

I will show a solution - but bees does not have "skin cells" - they have exoskeleton made of porous chitin (protein) it is noncellular - so I have to replace it with some other tissue in order to solve this problem, so as not to be a laughing stock.

[@GeneticsLessons]

I have solved the problem - will make a video today or tomorrow.

[@GeneticsLessons]

Ok will upload in 10 minutes.

[@GeneticsLessons]

here is a solution: czcams.com/video/B2Koqx-WPWE/video.html

[@citybricksofficial]

@@GeneticsLessons Thank you very much. It helped me a lot