Genetic diseases and factors

Question 1

Define Cystic fibrosis (genetic disease)

Answer 1

Caused by a faulty gene. It results in a defective protein being produced that causes lungs to become clogged with thick, sticky mucus. People have problems absorbing nourishments from foods and suffer from respiratory problems

Question 2

Define brittle bone disease

Answer 2

Developed from a genetic mutation. Are at high risk of fracturing their bones easily because their bones develop without the right amount of protein called collagen

Question 3

Define PKU (genetic disease

Answer 3

A genetic disorder that prevents a child from breaking down phenylalanine, an amino acid. If a child eats food with it in there is a build up of harmful substances in the body that damages brain development

Question 4

Define Huntington’s disease

Answer 4

An inherited neurodegenerative genetic disorder and a result of a faulty dominate gene. Affect muscle coordination and causes mental decline and behavioural changes. Personality change, slurring speech, fidgety movements and mood swings

Question 5

Define Klinefelter syndrome (genetic factor)

Answer 5

Slow in reaching milestones, baby may born with undescended testicle, poor muscle power, delayed communication, low attention span, low energy levels, lack of testosterone leading to a flabby body, low muscle tone, a reduction in calcium bones and a lack of body hair

Question 6

Define down’s syndrome

Answer 6

Occurs as a result of an extra chromosome. Causes varying levels of learning disabilities. Experience higher incidence of depression and hearing, visual or heart problems. Less likely to go out with friends because of health issues

Question 7

Define colour blindness

Answer 7

No colour perception at all. Inherited colour vision deficiency is a result of an abnormality in the retina and experience conditions such as diabetes and multiple sclerosis. Does not lead to long term health problems

Question 8

Define Duchenne muscular dystrophy

Answer 8

Caused by changes in the genes on the x chromosome responsible for the structure and functioning of a person muscles. Prevents the body from producing a muscle protein dystrophin, which is essential for building and repairing muscles. Muscles in the heart and lungs weaken.