Quiz 1

Question 1

Which modes of inheritance are associated with Amelognesis Imperfecta?

Answer 1

X-linked, AD, AR

Question 2

Loss of function is associated with what mode of inheritence?

Answer 2

R

Question 3

Gain of function, Haplosufficiency and Dominant Negative are associated with which mode of inheritance?

Answer 3

D.

Question 4

Which term refers to a light switch on or off? Dimmer Switch? Are these terms associated with D or R mechanisms?

Answer 4

Penetrance.
Variable Expressivity.
D.

Question 5

What is genetic heterogeneity? Example

Answer 5

Same phenotype, different genetic mechanism (e.g., AD, AR, XL).
Amelognesis Imperfecta.

Question 6

What is is clinical heterogeneity? Example?

Answer 6

Different phenotype, same gene mutation. Sickle cell anemia

Question 7

What is is allelic heterogeneity? Example?

Answer 7

Same phenotype, same gene, but different mutation of that same gene. Cystic fibrosis

Question 8

What is is locus heterogeneity? What is genetic heterogeneity?

Answer 8

Same phenotype, different gene.

Same phenotype, different genetic mechanism

Question 9

Example of gain of function?

Answer 9

Achondroplasia

Question 10

Consinguinity has MOI?

Answer 10

AR

Question 11

If horizontal transmission and full penetrance what is the MOI?

Answer 11

R

Question 12

If verical transmission and full penetrance what is the MOI?

Answer 12

D

Question 13

Lyonization is associated with MOI?

Answer 13

XL