Cystic Fibrosis Genetics and Function

The video discusses cystic fibrosis, an autosomal recessive disorder caused by mutations in the CFTR gene on chromosome 7. It explains the function of the CFTR gene, which is transcribed into mRNA and translated into a protein that acts as a chloride channel in epithelial cells. The video highlights the Delta F508 mutation, which prevents the CFTR protein from reaching the plasma membrane, leading to thick mucus buildup and associated health issues. The genetic inheritance of cystic fibrosis is also covered, emphasizing the need for two mutated alleles for the disorder to manifest.

What type of genetic disorder is cystic fibrosis?

• Autosomal dominant

• Autosomal recessive

• X-linked dominant

• X-linked recessive

On which chromosome is the CFTR gene located?

• Chromosome 5

• Chromosome 21

• Chromosome 7

• Chromosome 11

What is the primary function of the CFTR protein?

• Transporting sodium ions

• Breaking down glucose

• Acting as a chloride channel

• Synthesizing proteins

Where does the translation of the CFTR gene occur?

• In the mitochondria

• On the rough endoplasmic reticulum

• In the cytoplasm

• In the nucleus

What happens to mucus when CFTR protein functions properly?

• It becomes thinner

• It solidifies

• It remains unchanged

• It becomes thicker

What is the result of the delta F508 mutation in the CFTR gene?

• Improved lung function

• Absence of CFTR protein in the plasma membrane

• Increased chloride transport

• Enhanced mucus thinning

What is the consequence of thick mucus in cystic fibrosis patients?

• Improved digestion

• Increased energy levels

• Enhanced breathing

• Clogging of airways

How many mutated copies of the CFTR gene are needed for cystic fibrosis to manifest?

• One

• Two

• Three

• Four

What does a carrier of cystic fibrosis have in terms of CFTR alleles?

• Two mutated alleles

• Two normal alleles

• No CFTR alleles

• One normal and one mutated allele

What must occur for an individual to be affected by cystic fibrosis?

• Receive two normal alleles

• Receive no alleles

• Receive one mutated allele from each parent

• Receive one mutated allele from one parent