Penetrance and expressivity Flashcards

1
Q

Not all patients with the same gene mutation (i.e. genotype) exhibit the same degree of observable characteristics (i.e. phenotype). TRUE/FALSE

A

TRUE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

The proportion of a population of individuals who carry a disease-causing allele who express the related disease phenotype.

i.e. describes ‘how likely’ it is that a condition will develop

A

Penetrance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

The extent to which a genotype shows its phenotypic expression in an individual.

i.e. describes the ‘severity’ of the phenotype

A

Expressivity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What factors can affect penetrance and expressivity

A

Modifier genes
Environmental factors
Allelic variation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Give examples of conditions with incomplete penetrance

A

retinoblastoma and Huntington’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Give an example of a condition which has 100% or complete penetrance

A

achondroplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

give an example of a condition with a high level of expressivity

A

neurofibromatosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q
A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly