Quiz 1 Flashcards

1
Q

Which modes of inheritance are associated with Amelognesis Imperfecta?

A

X-linked, AD, AR

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2
Q

Loss of function is associated with what mode of inheritence?

A

R

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3
Q

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

A

D.

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4
Q

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

A

Penetrance.
Variable Expressivity.
D.

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5
Q

What is genetic heterogeneity? Example

A

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

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6
Q

What is is clinical heterogeneity? Example?

A

Different phenotype, same gene mutation. Sickle cell anemia

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7
Q

What is is allelic heterogeneity? Example?

A

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

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8
Q

What is is locus heterogeneity? What is genetic heterogeneity?

A

Same phenotype, different gene.

Same phenotype, different genetic mechanism

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9
Q

Example of gain of function?

A

Achondroplasia

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10
Q

Consinguinity has MOI?

A

AR

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11
Q

If horizontal transmission and full penetrance what is the MOI?

A

R

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12
Q

If verical transmission and full penetrance what is the MOI?

A

D

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13
Q

Lyonization is associated with MOI?

A

XL

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