Quiz 1 Flashcards
Which modes of inheritance are associated with Amelognesis Imperfecta?
X-linked, AD, AR
Loss of function is associated with what mode of inheritence?
R
Gain of function, Haplosufficiency and Dominant Negative are associated with which mode of inheritance?
D.
Which term refers to a light switch on or off? Dimmer Switch? Are these terms associated with D or R mechanisms?
Penetrance.
Variable Expressivity.
D.
What is genetic heterogeneity? Example
Same phenotype, different genetic mechanism (e.g., AD, AR, XL).
Amelognesis Imperfecta.
What is is clinical heterogeneity? Example?
Different phenotype, same gene mutation. Sickle cell anemia
What is is allelic heterogeneity? Example?
Same phenotype, same gene, but different mutation of that same gene. Cystic fibrosis
What is is locus heterogeneity? What is genetic heterogeneity?
Same phenotype, different gene.
Same phenotype, different genetic mechanism
Example of gain of function?
Achondroplasia
Consinguinity has MOI?
AR
If horizontal transmission and full penetrance what is the MOI?
R
If verical transmission and full penetrance what is the MOI?
D
Lyonization is associated with MOI?
XL