2C - Cystic Fibrosis Flashcards
What Are Genetic Disorders Caused By?
A mutation that results in a differently-functioning or non-functioning protein that alters the phenotype of the individual.
What Is Cystic Fibrosis (CF)?
A genetic disorder caused by a recessive allele of the CFTR gene on chromosome 7.
What Does Cystic Fibrosis Affect?
(3 Points)
~ Respiratory system.
~ Reproductive system.
~ Digestive system.
What Does The CFTR Gene Code For?
Chlorine ion channels, which are essential for the secretion of sweat, mucus and digestive juices.
What Does A Mutation On The CFTR Gene Lead To?
Non-functional chloride channels, causing thick, sticky mucus to accumulate in the air passages, digestive tract and the reproductive system.
For A Child To Have Cystic Fibrosis, What Must They Inherit?
Two recessive alleles.
If Both Parent Are Carriers Of Cystic Fibrosis, What Is The Chance Of The Child Having Cystic Fibrosis?
25% chance.
Why Is Mucus Important In The Respiratory System?
Essential for lung health, as it traps microorganisms to prevent infections.
Why Is Cilia Important In The Respiratory System?
It is in the respiratory tract to move mucus out of the airways.
In Cystic Fibrosis, What Does Faulty Chloride Ion Channels Cause?
(2 Points)
~ Causes the mucus to become thick and sticky, preventing cilia from moving it effectively.
~ This then causes frequent lung infections and mucus build up, which can block airways and cause breathing difficulties.
What Can Help Loosen Mucus In The Airways & Improve Gas Exchange?
Physiotherapy.
What Does Cystic Fibrosis In The Digestive System Cause?
(4 Points)
~ Pancreatic duct blockage.
~ Reduced digestion.
~ Pancreatic cysts.
~ Intestinal absorption.
What Happens During A Pancreatic Duct Blockage?
Thick mucus can block the tube to the pancreas, preventing digestive enzymes from entering the small intestine.
What Happens During Reduced Digestion?
Limits the availability of key nutrients for absorption.
What Happens During Intestinal Absorption?
Thick mucus coats the intestines, obstructing the absorption of nutrients into the bloodstream.
