Genetic factors that affect development

Question 1

What is a genetic predisposition?

Answer 1

Being born with a vulnerability to a certain condition

Question 2

What are the 8 disorder you need to know

Answer 2

1. cystic fibrosis
2. huntingtons disease
3. brittle bones disease
4. PKU
5. klinefelters disease
6. downs syndrome
7. colour blindness
8. duchenne muscular dystrophy

Question 3

what is cystic fibrosis?

Answer 3

When a defective protein is produced that causes your lungs become clogged with thick, sticky mucus.

Question 4

What causes cystic fibrosis?

Answer 4

A faulty recessive gene

Question 5

What is brittle bones disease?

Answer 5

a genetic mutation that causes a lack of collagen in bones and increases risk of injuries and broken bones.

Question 6

What is PKU?

Answer 6

when a child cannot consume phenylalanine (amino acid) in foods such as eggs, meat and milk. If consumed, it causes a build up harmful substances that cause brain damage.

Question 7

What is huntingtons disease

Answer 7

a neurodegenerative genetic disorder caused by a faulty dominant gene. This causes damage to nerve cells in brain.

Question 8

what are some effcts of huntingtons disease

Answer 8

• fidgety movements e.g twitcing
• changes in personality e.g aggressive, anti-social
• mood swings
• depressed
• memory loss

Question 9

What is Klinfelters syndrome

Answer 9

males born with extra X chromsome

Question 10

what are the effects of klinefelters syndrome

Answer 10

• small testicles
• small penis
• lack of testosterone
  -lack of pubic hair
• slow in developing milestones e.g walking
• learning difficulties
• delayed communication
  -passive personality

Question 11

What is downs syndrome

Answer 11

born with an extra chromosome (21),
causes learning difficulties, hearing, visual and heart problems

Question 12

What is colour blindness (CONDITION)

Answer 12

caused by an abnormality in retina, causes either no perception of colour or diffculties distinguishing between colours.

Question 13

What is duchenne muscular dystrophy (CONDITION)

Answer 13

caused by a genetic mutation in the X chromosome, which prevent the body from producing a vital muscle protein called dystrophin which is used for grwoing and repairing muscles. it weakens muscles and heart msucles. it affects gross motor skills so may need a wheelchair.