Topic 2- Cystic Fibrosis Flashcards
What are the 3 main systems CF affects
Respiratory - Digestive - Reproductive
The Cf allele is…
Must be from both parents (homozygous)
If a person is heterozygous for CF they…
Are a carrier but won’t have it
CF is caused by a…
Mutation in the gene that codes for CFTR protein
What is CFTR
Transports chloride ions our of cell into mucus
What does the movement of chloride ions cause in normal people
Causes water to move into mucus by osmosis, making mucus watery
What’s the problem with mutant CFTR proteins?
Much less efficient at transporting chloride ions out of cell, making mucus abnormally thick and sticky
What is the function of mucus in the respiratory system?
Prevents lung infections by trapping microorganisms
How does CF affect the respiratory system?
Cilia are unable to move mucus toward throat because it so sticky - Causes mucus to build up in airways - SA for gas exchange reduced - CF people are prone to lung infections
How does CF affect the pancreas (digestive system)
Harder to digest food so fewer nutrients absorbed
How can CF inhibit absorption
Lining of small intestine becomes abnormal thick
How can CF effect the testicles
So speed can’t reach penis
How can CF effect fertilisation
Rescues mobility of sperm
3 uses for genetic screening
1) identification of carriers
2) PGD
3) parental testing
What does identification of carriers show
Whether people without a disorder carry an allele
What is preimplantation genetic diagnostics
Involves screening an embryo before implantation
Where is they gene for CFTR
Chromosome 7
What does CFTR gene code for?
CFTR channel protein
What is CFTRs job?
(Passively) transport chloride ions across membrane cells
What 3 membrane cells does CF effect
Lungs
Pancreas
Liver
What is the purpose of transporting the chloride ions?
Water follows by osmosis, thinning the mucus
How can CF lead to lung damage
Repeated infections to the lung, as bacteria move there in mucus
Purpose of lungs?
Co2 diffuses out
How is a low pressure created in the lungs
Contracting the diaphragm & intercostal muscles