Cystic fibrosis

Question 1

Cystic fibrosis

Answer 1

Autosomal recessive disorder that creates defective channel proteins in cell membranes

Question 2

Symptoms of cystic fibrosis

Answer 2

Difficulties in breathing, digestion, reproduction due to build up of salt inside a cell that leads to thick mucus build up

Question 3

Nature of mutation

Answer 3

3 bases deletion of the CFTR gene on chromosome 7

Question 4

Screening for CF

Answer 4

Target DNA isolated, gone through PCR and electrophoresis, normal allele produced fragments of 98 bp while mutant allele produces fragment of 95 bp

Question 5

CF on female puberty and fertility

Answer 5

Delays in puberty, irregular periods, or absence of periods can lead to failure in ovulation. Thichker vaginal mucus which makes it harder for sperm to reach egg in the fallopian tube.

Question 6

CF on male puberty and fertility

Answer 6

Delay in puberty, The majority of men are infertile due to vas deferens missing or blocked. Healthy sperm is unable to travel through vas deferens to become semen.

Question 7

CF on the body

Answer 7

Clubbed fingers, nasal polyps, sinusitis, sticky mucus in lungs, inflammation of bile ducts in liver, earlier thinning of bones

Question 8

Impact of mutation on protein

Answer 8

Missing phe
Defective membrane transport protein