CCEA A-Level Health and Social Care 0003
Promoting Quality Care
Communication in Health, Social Care and Early Years Settings
Health and Well-Being
Safeguarding Children
Adult Service Users
Holistic Therapies
Understanding the Physiology of Health and Illness
Applied Research
Body Systems and Physiological Disorders
Providing Services
Public Health and Health Promotion
Supporting the Family
Understanding Human Behaviour
Human Nutrition and Health
Health and Well-Being
Inherited conditions: cystic fibrosis and Huntington's disease
- 3 things to know
- AS 3
Overview
Carrier of cystic fibrosis and three effects of Huntington's disease on a person.
What you need to know
Answer each one before you reveal it.
Which gene is faulty in cystic fibrosis?
If both parents carry the cystic fibrosis gene, what is the chance in each pregnancy that the child will have the condition?
Questions from this subtopic
Each one with the model answer underneath.
- 1
What pattern of inheritance does cystic fibrosis follow?
Model answer
Cystic fibrosis follows an autosomal recessive pattern, so a child must inherit a faulty copy of the gene from both parents to have the condition.
- 2
Which gene is faulty in cystic fibrosis?
Model answer
The CFTR gene on chromosome 7 is faulty in cystic fibrosis.
- 3
If both parents carry the cystic fibrosis gene, what is the chance in each pregnancy that the child will have the condition?
Model answer
The chance is one in four, or 25%, in each pregnancy when both parents are carriers.
- 4
What is a carrier of cystic fibrosis?
Model answer
A carrier of cystic fibrosis has one faulty copy of the gene and one working copy, so the person has no symptoms but can pass the fault on.
- 5
How does cystic fibrosis affect the lungs?
Model answer
Cystic fibrosis makes mucus thick and sticky, so the airways clog and trap bacteria, causing repeated chest infections and progressive lung damage.
- 6
How does cystic fibrosis affect digestion?
Model answer
Thick mucus blocks the ducts of the pancreas, so digestive enzymes cannot reach the gut and food is poorly absorbed.
Other ways to work this
The same content, four other ways.
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