B2 - Genetic factors that affect development Flashcards
(53 cards)
What does predisposition mean?
The possibility you will develop a certain condition
What does genetic predisposition mean?
You inherit the possibility to develop a certain condition from one or both of your biological parents
Does genetic predisposition of a condition give you a certainty that you will get it?
No
What is cystic fibrosis caused by?
A faulty gene
Is cystic fibrosis a recessive or dominant condition?
Recessive
What is a recessive condition?
A condition that both parents have to have the genes for to get it
What is a dominant condition?
A condition that only one parent has to have the genes for to develop it
What is the chance a child will be born with Cystic fibrosis if both parents have the gene?
1/4
What is cystic fibrosis?
A defective protein being produced that can cause the lungs to become clogged with thick, sticky mucus
What do people with CF have problems with?
- Absorbing nourishment from food
- Respiratory and chest infections
What is the life expectancy if you have CF?
In the past, it was a very short life expectancy, but it has increased due to new technology
What are treatments for CF?
- Physiotherapy to help clear mucus from lungs
- Drugs to help control breathing, infections and absorb food
- Special diet
What is brittle bone disease caused by?
May be passed from parents but can also be from a genetic mutation
What is brittle bone disease?
When a child is at high risk of fracturing or breaking bones because there bones develop without the right amount or type of collagen
What are treatments for brittle bone disease?
- Physiotherapy
- Assistive equipment
- Drug treatments
- These strengthen the bones
What is PKU
- Genetic disorder that prevents a child from breaking down phenylalanine, an amino acid found in many foods
- If the person eats food with that amino acid in it causes a build up of harmful substances in the body damaging brain development
- All babies are screened for this at birth using a heel prick test
What are treatments for PKU?
- Special diet
- Medication
- To prevent buildup
What would untreated PKU result in?
Severe learning disability and death
At what age does Huntingtons disease normally develop?
Any age but often between ages of 35 and 55
What is Huntington’s disease?
- Inherited neurodegenerative disorder
- Causes progressive damage to certain nerve cells in the brain
- Perception, awareness, thinking and judgement affected
What are the symptoms of Huntington’s disease?
- Problems with muscle coordination
- Mental decline
- Behavioural changes
- Earliest signs hardly noticeable
- As the disease progresses, psychiatric conditions may develop and problems with feeding
- During later stages, the person is increasingly dependant on others for care and support
What causes Kleinfelter syndrome?
- Around 1 in 600 boys will be born with the condition
- Caused by an extra chromosome and is not inherited as its acquired after conception
What are signs of Kleinfelter syndrome in babies?
- Slow in reaching milestones
- May be born with undescended testicales
- Poor muscle power
- Delayed communication
- Passive personality
What are physical and cognitive effects of Kleinfelter syndrome?
- May have mild learning difficulties
- Low energy llevels
- Extra growth spurts
- Testes do not increase in size
- May be a lack of testosterone (causing low muscle tone, flabby body and reduction of calcium in bones)
- Small penis
- May be issues with libido and fertility
