Modes of Inheritance

Question 1

Genetic heterogeneity

Answer 1

Many different genes that are mutated as the cause of the same phenotype

Question 2

Example of genetic heterogeneity

Answer 2

Deafness

Question 3

Example of reduced penetrance

Answer 3

Huntington’s

Can tell they have gene but not when they will be affected

Question 4

Variable expressivity

Answer 4

Hard to predict how severe disease will be

Question 5

Example of variable expressivity

Answer 5

Neurofibromatosis 1 (NF1)

Same gene is mutated but can cause different presentation

Cafe au last spots or noticeable tumours