Topic B: Genetic factors that affect development

Question 1

What is cystic fibrosis?

Answer 1

A disease which causes thick, sticky mucuson the lungs and more susceptibility to chest infections and lung infections

Question 2

What causes cystic fibrosis and what % does an offspring have chance of carrying it?

Answer 2

A faulty recessive gene
Both parents must carry and child has 25% chance of inheriting

Question 3

What can help cyststic fibrorsis?

Answer 3

Drugs to control breathing and food absorption and infections
Genetic therapy to replace faulty gene
Physio therapy

Question 4

What is Brittle bone disease and what causes it?

Answer 4

Having fragile weak bones and at high risk of fracturing them
Passed from parents or genetic mutation

Question 5

What can help Brittle bone disease?

Answer 5

Physical therapy, assistive equipment and drug treatment to strengthen bones

Question 6

What is Phenylketonuria (PKU)?

Answer 6

A build up of harmful substances that damaged brain development causing learning disabilities, death and developmental delay

Question 7

Can PKU be treated and what happens to babies with high levels of phenylalanine?

Answer 7

It can’t be cured and leads to death.
A special diet immediately and medication to prevent harmful substances building up

Question 8

What can a person with PKU not do and what are the risks?

Answer 8

Can’t break down the amino acid phenylalanine which damages brain development if not
It is found in many foods; milk, eggs and meat

Question 9

What is Huntingtons Disease and what does it cause?

Answer 9

An inherited neurodegenerative genetic disorder as a result of a faulty dominant gene which causes progressive damage to nerve cells in brain

Question 10

What are the effects of huntingtons disease?

Answer 10

Mental decline, decline in muscle co ordination, awareness, perception, thinking affected and erratic behaviour

Question 11

What is Klinefelter syndrome?

Answer 11

When a male baby acquires XXY chromosomes after birth

Question 12

What does Klinefelter syndrome cause?

Answer 12

Slow in reaching milestones, delayed communication, difficulty socialising, mild learning difficulties and difficulty with literacy

Question 13

What happens to an individual with Klinefelter syndrome during puberty?

Answer 13

Testes do not increase in size, flabby body, low muscle tone, small penis, lack of body hair and difficulty with fertility

Question 14

What is down’s syndrome?

Answer 14

A genetic condition as a result of an extra chromosome

Question 15

What does Down’s syndrome cause?

Answer 15

learning disabilities, physical features affected and associated medical issues, risk when giving birth, lower life expectancy and higher levels of depression

Question 16

What is colour blindness?

Answer 16

A condition which a person cant see colour at all or can’t distinguish between colours.

Question 17

Why does colour blindness occur?

Answer 17

Genetically inherited and an abnormality in the retina

Question 18

What can cause colour blindness?

Answer 18

Ageing, medication, type 2 diabetes and multiple sclerosis

Question 19

What is Duchenne muscular dystrophy?

Answer 19

A group of inherited genetic conditions that gradually weakens muscles leading to disability

Question 20

Why does Duchenne muscular dystrophy occur?

Answer 20

Changes in genes which are responsible for the structure and function of a persons muscles therefore muscles cant repair or grow

Question 21

What does Duchenne muscular dystrophy cause?

Answer 21

Difficulty using gross and fine motor skills, weakening of heart and lungs, wheelchair, severe health problems

Question 22

What is cancer?

Answer 22

A cell disease that causes abnormal cells and uncontrollable division

Question 23

What are the risk factors of getting cancer?

Answer 23

Life style and environmental factors such as tobacco and smoking, diet, alcohol and genetic inheritance

Question 24

Will all individuals with the faulty cancer gene get cancer?

Answer 24

No, but unhealthy lifestyle will increase the risk

Question 25

What is diabetes?

Answer 25

A common chronic condition in which an individual struggles to maintain normal blood glucose levels.

Question 26

How many people approximately have diabetes in the UK?

Answer 26

1/16 people or 3.9 million

Question 27

What is high blood cholesterol?

Answer 27

A fatty substance which builds up in the blood in artery walls

Question 28

What causes high blood cholesterol?

Answer 28

Lifestyle factors such as unhealthy diet, smoking, lack of exercise or inherited condition

Question 29

What is the inherited condition responsible for high blood cholesterol?

Answer 29

familial hypercholesterolemia

Question 30

What can high blood cholesterol cause?

Answer 30

Heart complications such as heart attacks or a stroke and poor quality of living such as angina and shortness of breath

Question 31

What disorders does susceptibility to disease consist of?

Answer 31

Cancer, diabetes and high blood cholesterol

Question 32

What disorders does biological factors consist of?

Answer 32

Foetal alcohol syndrome and maternal infections during pregnancy

Question 33

What is foetal alcohol syndrome?

Answer 33

When a mother drinks alcohol during pregnancy which affects a child’s development

Question 34

What are the effects of foetal alcohol syndrome?

Answer 34

• a small head
• folds of skin between eyes and nose
• a thin upper lip
• a short nose
• poor brain development

Question 35

What is maternal infections during pregnancy?

Answer 35

When a pregnant women is exposed to Rubella (measles) or Cytomegalovirus (herpes-type viruses) and it affects the baby

Question 36

What does rubella cause on baby?

Answer 36

Impaired eyesight or hearing or a damaged heart

Question 37

What does cytomegalovirus cause on baby?

Answer 37

deafness and learning diabilites