Multifactorial Inheritance Flashcards

1
Q

4 characteristics of complex traits?

A

1) aggregate in families 2) do not follow simple Mendelian inheritance 3) due to variants in multiple genes and non-genetic factors 4) no simple relationships in the population

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2
Q

A ____ heritability implies that differences among individuals with respect to a trait in a population can be attributed to differences in the genetic make-up.

A

high

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3
Q

_____ is indicated when there is an increased risk to relatives, but there is no consistent pattern of inheritance within families.

A

Multifactorial inheritance

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3
Q

Give an example of incomplete penetrance.

A

Type I diabetes and MHC

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4
Q

Multifactorial inheritance

A

When there is an increased risk to relatives, but there is no consistent pattern of inheritance within families.

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4
Q

Give an example of an allele-linked heterogeneity disease.

A

cystic fibrosis

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5
Q

Give an example of a variation due to the presence of phenocopies.

A

Thalidomide-induced limb malformation vs. genetically-induced

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6
Q

Presence of phenocopies

A

Individuals who have the disease or trait for reasons that are not primarily genetic even though clinical presentation mimics the more genetic version

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7
Q

Who are studied to try to determine genetic vs. environmental causes of variation in traits?

A

twins (monozygotic vs dizygotic)

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8
Q

The _______ of a trait is the proportion of total variance in a trait that is due to variation in genes.

A

heritability

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8
Q

Incomplete penetrance

A

not everyone with predisposing variant develops disease

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10
Q

A low heritability does not imply that _____ is not important.

A

environment

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12
Q

A high heritability does not imply that _____ are not important.

A

non-genetic factors

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13
Q

Give an example of a locus-linked heterogeneity disease.

A

Alzheimer’s Disease

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15
Q

The heritability of a trait is the proportion of total variance in a ____ that is due to variation in ____.

A

trait; genes

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16
Q

Give an example of variable expressivity.

A

Maturity Onset Diabetes in the Young (MODY)

17
Q

Variable expressivity

A

no two individuals with the same genetic variant have exactly the same disease characteristics

18
Q

Simple Mendelian diseases are generally ______ characterized by inheritance patterns.

A

single-gene disorders

19
Q

Heterogeneity

A

The “same” disease can be caused by different alleles at one location or by alleles at different locations in the genome

20
Q

Complex traits demonstrate one or more of the following:

A

1) incomplete penetrance 2) variable expressivity 3) heterogenicity 4) Presence of phenocopies