Predisposition to adult onset disease

Question 1

Mechanisms of adult onset genetic disease?

Answer 1

Single gene

Chromosomal

Mitochondrial

Multifactorial

Question 2

Single gene disorders with high penetrance

Answer 2

risk estimation easier

Question 3

Multifactorial conditions

Answer 3

a polygeneic genetic component interacting with environmental factors
– risk estimation more difficult
Risk alleles being identified for common / mutifactorial disease
predictive value of each is very small

Question 4

Principles of Ethics in Medicine

Answer 4

Respect for autonomy

Beneficence

Non-maleficence

Justice

Question 5

shared genetic heritage idea

Answer 5

Genetic disease affects families, not individuals

Discovery of a genetic disorder implies a risk for relatives

Question 6

In humans, three forms of superoxide dismutase are present

Answer 6

SOD1 is located in the cytoplasm
SOD2 in the mitochondria
SOD3 is extracellular

SOD1 and SOD3 contain copper and zinc,
SOD2 has manganese in its reactive centre.
The genes are located on chromosomes 21, 6 and 4

Question 7

SOD

Answer 7

The presence of SOD protects many types of cells from free radical damage that is important in ageing and ischaemic tissue damage

SOD also helps protect cells from DNA damage, lipid peroxidation, ionising radiation damage, protein denaturation
………….. and other forms of progressive cell degradation

Question 8

do you genetic test family members after a positive genetic result

Answer 8

What right (if any) do insurers, employers, schools, or other institutions have to ask about genetic tests?

Subject’s duty (?) to share information with relatives who may be at risk

Physician/investigator’s right/duty (?)to inform relatives at risk