Question 15 - Cystic fibrosis is transmitted as a(n): X-linked recessive gene autosomal recessive gene autosomal...

Question 15 - Cystic fibrosis is transmitted as a(n):

	X-linked recessive gene
	autosomal recessive gene
	autosomal dominant gene
	chromosomal defect

Expert Solution

Cystic fibrosis is an autosomal recessive disorder. This disorder occurs because of the mutation in CFTR gene. Normally CFTR gene instructs to make protein called cystic fibrosis transmembrane conductance regulator. This channel protein helps to transport Cl^- ions in and out of the cell, which helps the water movement in tissue necessary for production of thin, freely flowing mucus. This mucus helps to lubricate and protect the lining of different systems like digestive, organs as well as air passage. It also regulates the transport of positively charged ions like Na⁺ across the cell membrane.

mutation in CFTR gene leads to deformation of CFTR protein, leading to mucus build up, which persistently leads to infection inside the body ( e.g., lung infection).
Cystic fibrosis is an autosomal recessive disorder means the CFTR gene is located on an autosome ( other than sex chromosome.) . That's why it is not X linked or Y linked. This genetic condition appears when individual receives two copies of defective autosomal CFTR gene. So the condition recessive. If a child has cystic fibrosis , that means he is homozygous for cystic fibrosis disorder.

gladiator answered 8 months ago

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