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

used to identify specific regions of the genome (loci) that are associated with quantitative traits—traits that are influenced by multiple genes and show continuous variation, such as height, weight, or yield in crops.

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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.

25
Q

QTL

A

How It Works:
Trait Measurement:
You measure the quantitative trait (e.g., plant height, milk production, disease resistance) in a population of organisms (e.g., plants, animals, or humans).

Genetic Markers:
You use genetic markers (specific known locations in the genome) that vary between individuals in the population. These markers could be SNPs (single nucleotide polymorphisms) or microsatellites.

Genotyping:
You genotype (determine the DNA sequence or marker information) of each individual in your population.

Statistical Analysis:
You analyze the relationship between the genetic markers and the measured traits. By comparing which markers are present in individuals that show higher or lower values of the trait, you can identify regions of the genome that are linked to the trait.

QTL Identification:
The regions on the chromosome that are associated with variation in the trait are called Quantitative Trait Loci (QTLs). These are the genetic regions that contribute to the variation in the quantitative trait.