Genetics: Allele and Genotype Frequencies

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Questions and Answers

What is the definition of a population in the context of breeding?

  • A collection of individuals that may not interbreed.
  • A group of organisms of the same species that are genetically identical.
  • A group of organisms that can only breed with close relatives.
  • A group of sexually mature individuals occupying a specific space and time. (correct)

What term refers to the total alleles of all genes in a population at one time?

  • Allelic frequency
  • Genotype frequency
  • Gene pool (correct)
  • Homozygous condition

How many total alleles are present in a population of 10,000 individuals?

  • 20,000 (correct)
  • 10,000
  • 30,000
  • 5,000

What are the possible genotype combinations for a gene with a dominant (F) and recessive (f) allele?

<p>FF, Ff, ff (A)</p> Signup and view all the answers

In terms of allelic frequency, what does it mean when the total number of alleles is considered to be 1.0?

<p>It represents the proportion of one specific allele in the population. (D)</p> Signup and view all the answers

What distinguishes the heterozygous genotype in individuals?

<p>One allele is dominant and the other is recessive. (C)</p> Signup and view all the answers

Which of the following accurately describes allelic frequency?

<p>The proportion of a specific allele compared to the total alleles. (A)</p> Signup and view all the answers

What is meant by heterozygote superiority or heterozygote advantage?

<p>Heterozygous individuals are favored in areas with malaria. (A)</p> Signup and view all the answers

Which type of selection favors average individuals and eliminates extremes?

<p>Stabilising selection (A)</p> Signup and view all the answers

In which scenario is directional selection most likely to occur?

<p>When there is a shift in the optimum value needed for survival (D)</p> Signup and view all the answers

What is a key factor contributing to the frequency of alleles in a population?

<p>The environmental resistances and selection pressures (A)</p> Signup and view all the answers

What happens to individuals with the homozygous state for HbS in malaria regions?

<p>They are often selected against due to health disadvantages. (C)</p> Signup and view all the answers

When environmental temperatures are consistently around a specific norm, how does stabilising selection affect a population?

<p>It leads to a reduction of extreme phenotypes in the population. (B)</p> Signup and view all the answers

What role do environmental factors play in the selection pressures experienced by a population?

<p>They inform the optimal characteristics needed for survival. (D)</p> Signup and view all the answers

How is the gene pool of a population defined?

<p>The total of all alleles of all genes in the population. (C)</p> Signup and view all the answers

Which statement accurately reflects the concept of disruptive selection?

<p>It favors individuals at the extremes of a trait spectrum. (A)</p> Signup and view all the answers

What is the condition for allele frequencies to remain constant in a population according to the Hardy-Weinberg principle?

<p>There is random mating and no selection occurs. (A)</p> Signup and view all the answers

If the frequency of the recessive allele a is approximately 0.0063, what is the frequency of the dominant allele A?

<p>0.9937 (B)</p> Signup and view all the answers

Which equation represents the relationship between genotype frequencies in a population according to the Hardy-Weinberg principle?

<p>p^2 + 2pq + q^2 = 1.0 (A)</p> Signup and view all the answers

In a population where one person in 25,000 displays a recessive characteristic, what is the frequency of the homozygous recessive genotype aa?

<p>0.00004 (A)</p> Signup and view all the answers

What is a characteristic of individuals who are homozygous for haemoglobin-S (HbS HbS)?

<p>They have sickle cell anaemia and are significantly disadvantaged. (C)</p> Signup and view all the answers

What does the Hardy-Weinberg principle help researchers understand in populations?

<p>The frequencies of alleles and genotypes over generations. (B)</p> Signup and view all the answers

Which of the following statements about sickle cell anaemia is correct?

<p>Heterozygous individuals generally do not exhibit severe symptoms. (D)</p> Signup and view all the answers

What is the probability of obtaining a homozygous dominant genotype (AA) if the frequency of allele A is 0.9937?

<p>0.9874 (B)</p> Signup and view all the answers

What effect do environmental factors have on the frequency of alleles in a population?

<p>They do not affect the probability of a mutant allele occurring. (A)</p> Signup and view all the answers

Flashcards

Population

A group of individuals of the same species living in the same area at the same time, capable of interbreeding.

Gene pool

The total collection of all alleles for all genes within a population.

Allelic frequency

The relative frequency of a particular allele within a population.

Homozygous

An individual with two copies of the same allele for a specific gene.

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Heterozygous

An individual with two different alleles for a specific gene.

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Genotype frequency

The total number of occurrences of a particular genotype in a population.

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Genotype

The combination of alleles an individual possesses for a specific gene.

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Hardy-Weinberg Principle

The Hardy-Weinberg principle describes the stability of allele frequencies in a population across generations under specific conditions. It predicts that these frequencies remain constant in absence of disturbances like mutations, gene flow, genetic drift, non-random mating, and natural selection.

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Allele Frequency Equation (p + q = 1.0)

The equation p + q = 1.0 represents the sum of allele frequencies for a gene with two alleles. 'p' represents the frequency of the dominant allele (A), and 'q' represents the frequency of the recessive allele (a).

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Hardy-Weinberg Equation (p² + 2pq + q² = 1.0)

The Hardy-Weinberg equation, p² + 2pq + q² = 1.0, predicts the frequencies of genotypes in a population. p² represents the frequency of homozygous dominant (AA), 2pq represents the frequency of heterozygous (Aa), and q² represents the frequency of homozygous recessive (aa).

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Large Population Size (Hardy-Weinberg)

The Hardy-Weinberg principle assumes that the population is large, meaning that there are enough individuals to prevent random fluctuations in allele frequencies due to chance events. Changes due to chance are more significant in smaller populations.

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Random Mating (Hardy-Weinberg)

The Hardy-Weinberg principle assumes that mating within the population is random. This means that individuals choose mates irrespective of their genotypes. Non-random mating, such as inbreeding, can alter allele frequencies.

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No Mutations (Hardy-Weinberg)

The Hardy-Weinberg principle assumes that new mutations are not introduced into the population. Mutations can change the genetic makeup of a population by creating new alleles.

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No Gene Flow (Hardy-Weinberg)

The Hardy-Weinberg principle assumes no gene flow, meaning no exchange of alleles between populations. Migration or movement of individuals can change allele frequencies through the introduction or removal of genes.

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No Natural Selection (Hardy-Weinberg)

The Hardy-Weinberg principle assumes that there's no natural selection, meaning that all genotypes have equal survival and reproductive rates. Selection pressures can favor certain genotypes, leading to changes in allele frequencies.

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Sickle Cell Anemia

Sickle cell anaemia is a genetic disorder caused by a mutation in the gene responsible for haemoglobin production, resulting in abnormally shaped red blood cells. Individuals with sickle cell anaemia have the HbSHbS genotype.

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What is heterozygote superiority?

Heterozygote superiority occurs when the heterozygous genotype is more advantageous than either homozygous genotype.

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What is directional selection?

Directional selection favors individuals with traits that deviate from the mean in a specific direction, leading to a shift in the population's average phenotype over time.

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What is stabilising selection?

Stabilising selection favors individuals closest to the average phenotype, reducing variation and maintaining the status quo.

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What are selection pressures?

Selection pressures, such as competition for resources, predation, and disease, influence the survival and reproduction of individuals in a population, impacting allele frequencies.

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What is a gene pool?

The gene pool consists of all the alleles of all the genes present within a population at a given time.

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How do environmental factors influence evolution?

Environmental factors can act as agents of change, influencing the direction of evolution through selection pressures.

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What is disruptive selection?

Disruptive selection favors individuals at both extremes of a trait range, leading to increased diversity within a population.

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How do selection pressures affect allele frequency?

The frequency of an allele within a gene pool is influenced by selection pressures, acting on the fitness of different genotypes.

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Give an example of directional selection.

Antibiotic resistance in bacteria is an example of directional selection, where the ability to withstand antibiotics becomes advantageous and increases in frequency.

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Study Notes

Allele and Genotype Frequencies

  • Sexually mature individuals within a population can potentially breed with any other.
  • An organism's alleles can combine with any others in the population.
  • A population is a group of the same species that occupies a specific area at a specific time and can interbreed.
  • The gene pool is all the alleles from all genes in a population at a given time.
  • Allelic frequency is the number of times an allele appears in a gene pool.
  • One gene can have multiple alleles; for example, in cystic fibrosis, F is the dominant allele for normal mucus, and f is the recessive allele for thicker mucus.
  • Each individual has two alleles per gene on homologous chromosomes, thus only one pair counts towards the gene pool.
  • Possible combinations of alleles for cystic fibrosis are FF, ff, or Ff (which can be written as fF).
  • The total number of alleles in a population is always 1.0.
  • Hardy-Weinberg principle describes allele frequencies remaining constant in subsequent generations under specific conditions.

Hardy-Weinberg Principle

  • For allele frequencies to remain static, five conditions must be met:
    • No mutations
    • No allele flow in or out of population (isolated population)
    • Equal passing of all alleles to the next generation (no selection)
    • Large population size
    • Random mating within the population
  • Equation: p + q = 1.0 (where p = frequency of allele A, and q = frequency of allele a).
  • This leads to p² + 2pq + q² = 1.0 (the Hardy-Weinberg equation).

Recessive Allele Example

  • If a recessive allele causes a characteristic that occurs in 1 out of 25,000 people, the frequency of that recessive genotype (aa) is 1/25,000 (0.00004).
  • q² = 0.00004
  • q = ~0.0063 (approximately)
  • p = 1.0 - q, so p = ~ 0.9937.
  • Heterozygotes (Aa) frequency is 2pq = ~ 0.0125 (or ~125 in 10,000).

Environmental Effects on Allele Frequencies

  • Environmental changes affect the survival and thus, frequency of an allele.
  • Environmental pressures, such as competition for resources, and changes in climate, predation, and disease determine which alleles are passed.
  • Environmental factors don't create new alleles, rather they affect the frequency of existing ones.
  • Some environmental factors can affect the overall mutation rate of the gene pool.

Sickle Cell Anemia

  • Sickle cell anemia is caused by a single base substitution in DNA causing abnormal haemoglobin.

  • The HbA allele (normal haemoglobin) and HbS allele (sickled haemoglobin) are codominant.

  • HbS protects against malaria.

    • HbSHbS genotype: severe sickle cell anemia (disadvantageous).
    • HbAHbA genotype: normal hemoglobin (susceptible to malaria in malaria-prone areas, disadvantageous in such areas).
    • HbAHbS genotype: sickle cell trait (with protection against malaria that outweighs tiredness in malaria-prone regions).

Selection Pressures and Types of Selection

  • Selection pressures are environmental forces that limit a species' population (predation, competition for resources, climate changes, disease).
  • Three kinds of selection:
    • Stabilizing selection: Favors average phenotypes, reducing the extremes.
    • Directional selection: Favors one extreme, leads to changing average phenotypes as the environment changes (e.g., temperature change causing a shift in fur length).
    • Disruptive selection: Favors both extremes, potentially splitting a population into distinct groups.

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