COMPLEX TRAITS Flashcards

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1
Q

what controls complex traits

A

: Complex traits are governed by a combination of multiple loci and environmental factors, not following simple Mendelian inheritance rules.

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2
Q

what is genetic determinism

A

Genetic determinism is the idea that genes solely determine physical characteristics or behaviors, rather than a combination of genetic and environmental factors.

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3
Q

What is an example of how genetic determinism is incorrect?

A

An example is the colorpoint locus in cats, where enzymes for coat pigmentation are temperature-sensitive, showing that environmental factors (temperature) influence phenotype.

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4
Q

PENETRANCE

A

Penetrance is the proportion of individuals with a given genotype that show the expected phenotype

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5
Q

EXPRESSIVITY

A

Expressivity is the degree to which a gene is expressed, which can be influenced by both internal and external environmental factors.

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6
Q

What is the difference between additive and non-additive gene action?

A

Additive gene action refers to effects where genes contribute equally to the phenotype, while non-additive gene action involves interactions like dominance and epistasis.

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7
Q

What is broad sense heritability?

A

Broad sense heritability is the proportion of phenotypic variation in a population that is due to genetic variation (including all genetic factors).

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8
Q

What is narrow sense heritability?

A

Narrow sense heritability is the proportion of phenotypic variation that is due to additive genetic variance, which is more useful for predicting response to selection.

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9
Q

What does QTL mapping involve

A

QTL mapping involves crossing two lines that differ in traits, correlating the phenotype to genetic markers in the offspring, and identifying markers that segregate with the trait of interest.

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10
Q

How is GWAS different from QTL mapping?

A

GWAS is used for natural populations without the need for controlled crosses, assessing many alleles at once to identify genomic regions associated with traits.

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11
Q

What is linkage disequilibrium?

A

Linkage disequilibrium refers to the degree to which one genetic variant is inherited or correlated with a nearby genetic variant in a population.

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12
Q

What is the consequence of eugenics based on genetic determinism?

A

Eugenics is a flawed concept where certain groups are prevented from reproducing to create a “fitter” population, wrongly assuming that all human traits are solely controlled by genetics.

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13
Q

What does heritability measure in genetics?

A

Heritability estimates how much of the variation in a trait is due to genetic differences, helping to distinguish genetic from environmental influences.

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14
Q

In complex traits, what increases the risk of developing a trait?

A

Having specific genetic variants increases the risk of developing a trait, but it is not a certainty.

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15
Q

What are the different APOE gene variations associated with Alzheimer’s disease (AD)?

A

E3: No specific association

E2: Reduced risk

E4: Higher risk

Additive effect: Having two copies of E4 increases risk more than having one.

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16
Q

What is the function of the APOE gene?

A

The APOE gene is involved in transporting lipids between cells and tissues.

17
Q

What are SNPs (single nucleotide polymorphisms) and their relevance?

A

SNPs are the most common type of genetic variation in DNA and can impact health.
They are used as genetic markers to locate genes associated with diseases or traits.

18
Q

What is linkage disequilibrium (LD)?

A

Linkage disequilibrium is the degree to which one genetic variant is inherited or correlated with a nearby variant in a population.

19
Q

What goes against linkage disequilibrium?

A

Recombination breaks up genetic associations, going against linkage disequilibrium.

20
Q

What are the causes of linkage disequilibrium?

A

Physical proximity on a chromosome

Selection (advantageous to keep variants together)

Population history

Genetic drift

Migration

Mutations

21
Q

Why is linkage disequilibrium important?

A

Identifies genetic variants associated with diseases or traits (GWAS)

Helps map disease-causing genes

Assists in understanding population history

Recognizes recombination hotspots that often show lower LD

22
Q

What is pleiotropy?

A

Pleiotropy occurs when a single gene influences two or more seemingly unrelated traits.

23
Q

What are the types of pleiotropy?

A

Direct pleiotropy: A gene affects multiple traits due to its role in different biological pathways.

Indirect pleiotropy: A change in one trait due to a gene causes secondary effects in other traits.

24
Q

What is the evolutionary significance of pleiotropy?

A

Constraint of evolution: Selection for or against a gene can have unintended consequences.

Adaptation: Pleiotropy can allow organisms to adapt quickly if one gene influences multiple traits.

Complexity in trait inheritance: Adds complexity to how traits are inherited and selected for, making outcomes harder to predict.