Topic B: Genetic factors that affect development Flashcards
What is cystic fibrosis?
A disease which causes thick, sticky mucuson the lungs and more susceptibility to chest infections and lung infections
What causes cystic fibrosis and what % does an offspring have chance of carrying it?
A faulty recessive gene
Both parents must carry and child has 25% chance of inheriting
What can help cyststic fibrorsis?
Drugs to control breathing and food absorption and infections
Genetic therapy to replace faulty gene
Physio therapy
What is Brittle bone disease and what causes it?
Having fragile weak bones and at high risk of fracturing them
Passed from parents or genetic mutation
What can help Brittle bone disease?
Physical therapy, assistive equipment and drug treatment to strengthen bones
What is Phenylketonuria (PKU)?
A build up of harmful substances that damaged brain development causing learning disabilities, death and developmental delay
Can PKU be treated and what happens to babies with high levels of phenylalanine?
It can’t be cured and leads to death.
A special diet immediately and medication to prevent harmful substances building up
What can a person with PKU not do and what are the risks?
Can’t break down the amino acid phenylalanine which damages brain development if not
It is found in many foods; milk, eggs and meat
What is Huntingtons Disease and what does it cause?
An inherited neurodegenerative genetic disorder as a result of a faulty dominant gene which causes progressive damage to nerve cells in brain
What are the effects of huntingtons disease?
Mental decline, decline in muscle co ordination, awareness, perception, thinking affected and erratic behaviour
What is Klinefelter syndrome?
When a male baby acquires XXY chromosomes after birth
What does Klinefelter syndrome cause?
Slow in reaching milestones, delayed communication, difficulty socialising, mild learning difficulties and difficulty with literacy
What happens to an individual with Klinefelter syndrome during puberty?
Testes do not increase in size, flabby body, low muscle tone, small penis, lack of body hair and difficulty with fertility
What is down’s syndrome?
A genetic condition as a result of an extra chromosome
What does Down’s syndrome cause?
learning disabilities, physical features affected and associated medical issues, risk when giving birth, lower life expectancy and higher levels of depression
What is colour blindness?
A condition which a person cant see colour at all or can’t distinguish between colours.
Why does colour blindness occur?
Genetically inherited and an abnormality in the retina
What can cause colour blindness?
Ageing, medication, type 2 diabetes and multiple sclerosis
What is Duchenne muscular dystrophy?
A group of inherited genetic conditions that gradually weakens muscles leading to disability
Why does Duchenne muscular dystrophy occur?
Changes in genes which are responsible for the structure and function of a persons muscles therefore muscles cant repair or grow
What does Duchenne muscular dystrophy cause?
Difficulty using gross and fine motor skills, weakening of heart and lungs, wheelchair, severe health problems
What is cancer?
A cell disease that causes abnormal cells and uncontrollable division
What are the risk factors of getting cancer?
Life style and environmental factors such as tobacco and smoking, diet, alcohol and genetic inheritance
Will all individuals with the faulty cancer gene get cancer?
No, but unhealthy lifestyle will increase the risk
What is diabetes?
A common chronic condition in which an individual struggles to maintain normal blood glucose levels.
How many people approximately have diabetes in the UK?
1/16 people or 3.9 million
What is high blood cholesterol?
A fatty substance which builds up in the blood in artery walls
What causes high blood cholesterol?
Lifestyle factors such as unhealthy diet, smoking, lack of exercise or inherited condition
What is the inherited condition responsible for high blood cholesterol?
familial hypercholesterolemia
What can high blood cholesterol cause?
Heart complications such as heart attacks or a stroke and poor quality of living such as angina and shortness of breath
What disorders does susceptibility to disease consist of?
Cancer, diabetes and high blood cholesterol
What disorders does biological factors consist of?
Foetal alcohol syndrome and maternal infections during pregnancy
What is foetal alcohol syndrome?
When a mother drinks alcohol during pregnancy which affects a child’s development
What are the effects of foetal alcohol syndrome?
- a small head
- folds of skin between eyes and nose
- a thin upper lip
- a short nose
- poor brain development
What is maternal infections during pregnancy?
When a pregnant women is exposed to Rubella (measles) or Cytomegalovirus (herpes-type viruses) and it affects the baby
What does rubella cause on baby?
Impaired eyesight or hearing or a damaged heart
What does cytomegalovirus cause on baby?
deafness and learning diabilites
