B2 - Genetic factors that affect development Flashcards
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
How is Downs syndrome caused?
- Caused by an extra chromosone
- Around 60,000 people in the Uk have it
- Higher risk of having a child with Down’s syndrome the older the mother is
What is the life expectancy of someone with Down’s syndrome?
Generally between 50 and 60 years
What are the effects of Down’s syndrome?
- Learning disabilities
- Physical features and medical issues
- Higher incidence of depression
- Hearing, visual and heart problems more common
What is colour blindness?
- True colour blindness very rare
- Some people have colour vision deficiency were they have difficulty distinguishing between certain colours
How many people in Britain have colour blindness?
2.7 million people in Britain
How is colour blindness caused?
- For the majority of people the condition is genetic caused by abnormality in the retina
- Can be caused as a result of other conditions such as diabetes and MS
What is Duchenne muscular dystrophy?
- A group of inherited conditions that gradually weaken muscles leading to disability
- It is a progressive condition which worsens over time
What causes Duchenne muscular dystrophy?
- Inherited on the female gene and only passed to male offspring
- Caused by genetic mutations on the X chromosome which prevents the body from producing a vital protein which is essential for building and repairing muscles
What age is a persons usually diagnosed with Duchenne muscular dystrophy?
Usually by the age of 5
What are the effects of Duchenne muscular dystrophy?
- By the time a person is 12, they likely will need a wheelchair
- Fine motor less affected than gross motor
- Causes severe health problems, as the muscles of the heart and lungs weaken
What is the life expectancy of someone with Duchenne muscular dystrophy?
Around 30
How many types of cancer is there?
Over 200
What is cancer?
A cell disease that results in them becoming abnormal and dividing to make even more abnormal cells
How is cancer caused?
Can be genetic risks and lifestyle risks
How many cancers can be prevented by making good lifestyle choices?
Over 40%
What is type 1 diabetes?
Early onset, insulin dependant
What is type 2 diabetes?
When it occurs later
What is diabetes?
A condition that causes a person’s blood sugar level to become to high
What is the risk of developing type 2 diabetes if you have an identical twin who’s diabetic?
90%
What can cause high blood cholesterol?
- Unhealthy diet
- Smoking
- Lack of excersise
- Genetics
What is cholesterol?
A fatty substance that is carried around the body by proteins
What can too much cholesterol cause?
- Build up in artery walls
- Can cause heart disease and other cardiovascular diseases
What causes foetal alcohol syndrome?
Mother drinking alcohol while pregnant
What symptoms would a baby born with foetal alcohol syndrome have?
- Tend to be smaller
- Have smaller heads than normal
- May have heart defects, learning difficulties and neurological problems
What may happen if a pregnant woman contracted rubella?
- Particularly dangerous in first month of pregnancy
- May may the baby born with impaired hearing or eyesight or a damaged heart
How can CMV affect a person?
- Most people have no noticeable symptoms
- If a pregnant woman contracted it, it would be passed to the baby causing congenital CMV. Can cause miscarriage, deafness, learning difficulties
What diet should a pregnant person have?
- Healthy
- Plenty of starchy foods
- High protein diet
What are the most common congenital defects?
- Heart defects
- Neural tube defects
- Down syndrome
What factors can cause congenital defects?
- Genetic
- Socio-economic
- Environmental
- Infectious diseases
