Genetic Variation Flashcards
Define evolution
> Evolution:
The process by which populations of organisms undergo genetic changes over generations due to changes in heritable traits.
> Mechanism:
Evolution occurs through genetic variation, natural selection, and other factors that alter allele frequencies in a population.
> Outcome:
- Adaptation: Species evolve traits that better suit them to their environment.
Speciation: Over long periods, genetic changes can lead to the formation of new species.
- Extinction: Some species may disappear if they fail to adapt.
- Example – Peppered Moth: During England’s Industrial Revolution, soot darkened tree bark. Natural selection favoured dark-coloured moths as they were better camouflaged.This led to a shift in allele frequencies, increasing the prevalence of the dark moths.
> Significance:
Evolution shapes the overall genetic diversity of life and is influenced by environmental changes.
Define a population
> Population:
A group of individuals of the same species living in the same area, capable of interbreeding and producing fertile offspring.
> Gene Pool:
All the genetic material (alleles) within the population, contributing to the next generation.
> Influencing Factors:
- Environmental conditions: Temperature, habitat, and other factors can affect population size and structure.
- Resource availability: Food, water, and shelter impact population growth and survival.
> Genetic diversity:
Variation within the population helps with adaptation to environmental changes, ensuring long-term survival.
Explain why an individual organism cannot evolve
> Population-Level Process:
Evolution affects populations, not individual organisms.
> Phenotype Changes:
Individual traits or mutations do not equal evolution unless passed to offspring and spread through the population.
> Key Mechanism:
Evolution occurs when allele frequencies change within a population’s gene pool across multiple generations.
> Genotype Stability:
An individual’s genotype remains constant (except for somatic mutations, which are not inheritable).
> Mutations in Gametes:
Only mutations in reproductive cells (gametes) can be inherited and contribute to evolution.
> Natural Selection:
Acts on the variation within a population, favouring advantageous traits, but does not alter an individual’s genetic makeup during its lifetime.
Define a gene
> Gene:
A sequence of DNA that codes for a functional product (usually a protein, sometimes RNA).
> Location:
Found on chromosomes within the cell nucleus; each gene has a specific position (locus) on a chromosome.
> Basic Unit of Heredity:
Genes are passed from generation to generation, determining traits.
> Role in Variation:
Genetic variation arises from mutations or the combination of different alleles.
> Diversity:
Genetic variation contributes to differences within a population.
> Evolution:
Variation is essential for natural selection, allowing populations to evolve and adapt to their environment.
Define an allele
> Allele:
A variant form of a gene found at a specific locus on a chromosome, arising from mutation.
> Genetic Variation:
Different alleles produce variations in traits (e.g., eye colour, blood type).
> Inheritance:
Each individual has two alleles for each gene—one from each parent— which can be:
- Homozygous: Identical alleles.
- Heterozygous: Different alleles.
> Dominant vs. Recessive:
Alleles can express traits in dominant or recessive patterns, shaping the organism’s phenotype.
> Significance:
Alleles drive genetic diversity within populations, influencing evolution by providing traits that may offer a selective advantage or disadvantage.
Define a gene pool
> Gene Pool:
The total genetic information, including all alleles, present in a population.
> Genetic Diversity:
A large gene pool indicates high genetic diversity, aiding adaptation to environmental changes.
> Small Gene Pool:
Low diversity can increase vulnerability to extinction due to a reduced ability to adapt.
> Factors Affecting the Gene Pool:
- Mutations: Introduce new alleles.
- Gene Flow: Movement of genes between populations.
- Genetic Drift: Random changes in allele frequencies.
- Natural & Sexual Selection: Select for advantageous traits.
> Significance: A diverse gene pool is essential for evolution and population survival, providing more options for natural selection to act upon.
Explain what it means to have more or less variation in a population
> Genetic Variation:
The range of different alleles in a population’s gene pool, leading to diversity in traits.
> More Variation:
- High Diversity: More alleles for various traits, leading to a wider range of phenotypes.
- Adaptability: Increases the population’s ability to adapt to environmental changes or selective pressures.
- Sources: Mutation, gene flow (migration), sexual reproduction (crossing over, random fertilisation).
- Example: A diverse insect population with various colours may be more resilient to predators.
> Less Variation:
- Low Diversity: Fewer alleles, narrower phenotypic range.
- Vulnerability: Less likely to adapt to changes, more susceptible to diseases, environmental shifts.
- Causes: Genetic drift, inbreeding, bottlenecks, small population size.
- Example: A cheetah population with low genetic variation is more at risk from disease.
> Significance: Genetic variation is key to a population’s long-term survival and evolution. High variation enhances adaptability, while low variation increases the risk of extinction.
Explain what the sources of genetic variation are
> Mutations:
Random changes in DNA sequence.
Can introduce new alleles into a population.
> Causes:
DNA replication errors, mutagens (chemicals, radiation), viral insertions.
> Effect:
- Can be beneficial, neutral, or harmful, depending on how they affect fitness.
- Example: A mutation that provides a survival advantage may increase in frequency over time.
> Recombination (Crossing Over):
- Occurs during meiosis when homologous chromosomes exchange DNA segments.
- Shuffles alleles, creating new gene combinations.
- Increases genetic diversity within a population.
> Independent Assortment:
- During meiosis, chromosomes are randomly distributed to gametes.
- Leads to different combinations of maternal and paternal chromosomes.
Results in genetic variety in offspring.
> Gene Flow (Migration):
- Movement of alleles between populations due to migration and interbreeding.
- Introduces new genetic material, increasing genetic variation in the recipient population.
- Can counteract genetic drift by reintroducing lost alleles.
> Sexual Reproduction:
- Combines genetic material from two parents.
- Produces offspring with unique genetic makeups through the random fusion of gametes.
- Contributes to genetic variation in the population.
Explain the difference between sexual and asexual reproduction
> Sexual Reproduction:
- Process: Involves two parents; gametes produced through meiosis, fertilisation restores full chromosome number.
- Genetic Variation: High due to random assortment, crossing over, and random fertilisation.
- Advantages: Increases genetic diversity. Enhances adaptability and survival. Drives evolution and development of advantageous traits.
- Disadvantages: Requires more time, energy, and finding a mate. Produces fewer offspring compared to asexual reproduction.
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> Asexual Reproduction:
- Process: Involves one parent; offspring are genetically identical (clones) via mitosis.
- Genetic Variation: Low to none.
- Advantages: Rapid population growth. No mate required, faster and less energy-intensive. Useful in stable environments.
- Disadvantages: Limited genetic diversity, reducing adaptability. Higher vulnerability to environmental changes, increasing extinction risk.
Explain how sexual reproduction causes genetic variation
> Independent Assortment:
- Occurs during meiosis when homologous chromosomes are randomly distributed to daughter cells.
- Each gamete receives a different combination of maternal and paternal chromosomes.
- Leads to a variety of genetic combinations in offspring.
> Crossing Over:
- Happens in Prophase I of meiosis when homologous chromosomes pair up and exchange DNA segments.
- Creates new allele combinations in gametes, enhancing genetic diversity.
> Random Fertilisation:
- The fusion of any sperm with any egg increases genetic variation.
- Each gamete has a unique set of DNA, producing offspring with a unique genetic makeup.
Explain what happens in the cell before meiosis
> Cell Growth and Protein Synthesis
- Cell grows and synthesises proteins and organelles.
- Crucial for cell growth and readiness for DNA replication.
> DNA Replication:
- Each chromosome duplicates into two identical sister chromatids.
- Sister chromatids are joined by a centromere.
- Essential for meiosis, ensuring correct genetic material in gametes.
> Continued Growth and Protein Production:
- Cell continues to grow and produce proteins for chromosome manipulation.
- DNA replication errors are checked and repaired.
> Chromatin Condensation
- DNA-protein complex (chromatin) condenses into visible chromosomes.
Important for proper chromosome segregation during meiosis.
> Centrosome Duplication and Spindle Formation:
- Centrosomes (microtubule-organizing centers) duplicate.
- Formation of spindle apparatus to separate homologous chromosomes.
> Checkpoints Before Meiosis:
- DNA damage checked.
- Verification of presence of necessary proteins and enzymes.
- Ensures readiness for meiosis.
> Significance of Preparation Phase:
- Critical for genetic diversity.
- Reduces chromosome number by half during meiosis.
- Prevents mutations or abnormalities that could affect gametes and lead to genetic disorders.
Explain the process of crossing over
> Crossing Over:
- Exchange of genetic material between non-sister chromatids of homologous chromosomes.
- Occurs during Prophase I of meiosis.
Process
> Synapsis:
- Homologous chromosomes pair up closely, forming tetrads (two homologous chromosomes, each with two sister chromatids).
- Chiasmata: Points where chromatids overlap and intertwine.
- Genetic Exchange: At chiasmata, chromatids break and rejoin, swapping segments of DNA.
> Outcome of Crossing Over
-Genetic Recombination: New combinations of alleles on chromatids.
- Increased Genetic Variation: Chromatids are no longer identical, contributing to diversity in gametes.
> Significance
- Variation in Offspring: Gametes contain a mix of alleles from both parents.
- Evolution and Adaptation: Essential for genetic diversity, survival, and evolution of species.
- Unique Gametes: Ensures each gamete and offspring is genetically unique.
Explain the process of independent assortment
> Independent Assortment: Random orientation of homologous chromosome pairs during Metaphase I of meiosis.
> Process:
- Chromosome Pairing: Homologous chromosomes (tetrads) line up in pairs along the metaphase plate.
> Random Orientation:
Each pair’s orientation is independent of other pairs.
> Independence:
The alignment of one chromosome pair does not affect the alignment of others.
> Outcome:
Genetic Variation: Random assortment results in a diverse combination of maternal and paternal chromosomes in gametes.
> Genetic Combinations:
Leads to numerous potential genetic combinations in the resulting gametes.
> Significance:
Genetic Diversity: Crucial for producing genetically diverse offspring.
> Evolution: Contributes to variation, which is important for adaptation and evolution.
Define segregation
Segregation is the process during meiosis where paired homologous chromosomes (and later, the sister chromatids) are separated into different gametes. This ensures that each gamete receives only one allele from each gene pair, maintaining genetic diversity in the offspring.
Explain how meiosis
affects genetic variation
Random Fertilisation: Fusion of two unique gametes creates a zygote with a varied genetic makeup.
Genetic Diversity: Ensures offspring inherit unique genetic combinations.
Evolution and Adaptation: Crucial for population diversity and adaptation to environmental changes.
> Importance:
- Sexual Reproduction: Essential for generating diverse offspring.
- Species Variation: Contributes to genetic diversity within a species.
Define and explain mitosis AND meiosis
> Mitosis: Cell division for growth, repair, and asexual reproduction. Mitosis results in two identical diploid cells; important for growth.
- Stages:
Prophase: Chromatin condenses into chromosomes; nuclear envelope breaks down.
Metaphase: Chromosomes align at the cell’s equator.
Anaphase: Sister chromatids are pulled apart to opposite poles.
Telophase: Nuclear envelope reforms; cell begins to divide (cytokinesis).
> Meiosis: Produces gametes (sperm and egg) for sexual reproduction. Meiosis results in four genetically diverse haploid gametes; important for sexual reproduction and genetic variation.
Stages
- Meiosis I:
Prophase I: Homologous chromosomes pair up and may exchange genetic material (crossing over).
Metaphase I: Paired homologous chromosomes line up at the equator.
Anaphase I: Homologous chromosomes are pulled apart.
Telophase I: Two haploid cells form, each with half the chromosome number.
- Meiosis II: Similar to mitosis, but starts with haploid cells.
Prophase II: Chromosomes condense again.
Metaphase II: Chromosomes line up at the equator.
Anaphase II: Sister chromatids are pulled apart.
Telophase II: Four haploid gametes are produced.
Explain how mitosis affects genetic variation
> Mitosis does not directly affect genetic variation because:
-It produces genetically identical cells, meaning no new combinations of alleles are created.
- This is essential for growth, tissue repair, and asexual reproduction, where maintaining genetic consistency is important.
- However, mitosis can indirectly influence genetic variation in a population over time if mutations occur during DNA replication.
- Mutations introduce new alleles into the population, which can affect genetic variation across generations.
Define homologous
chromosomes
> Homologous Chromosomes: Chromosome pairs in a diploid organism that are similar in size, shape, and genetic content.
Composition
> Each homologous pair consists of:
- One Chromosome from the Mother
- One Chromosome from the Father
> Similarities: Homologous chromosomes have the same genes at the same loci, but may have different alleles.
Function: Align and pair during meiosis, facilitating processes like crossing over and independent assortment.
Define sister chromatids
> Sister Chromatids: Two identical copies of a single chromosome formed by DNA replication.
> Characteristics:
- Identical DNA Sequences: Both chromatids have the same genetic information.
- Held Together by Centromere: Structure that connects the two chromatids.
> Role in Cell Division
- Mitosis:
Separation: Sister chromatids are separated and distributed to daughter cells.
- Purpose: Ensures each daughter cell has identical genetic information.
> Meiosis I:
- Homologous Chromosomes: Sister chromatids stay together as homologous chromosomes are separated.
> Meiosis II:
- Final Separation: Sister chromatids are separated, leading to the formation of haploid gametes.
> Genetic Accuracy: Crucial for accurate distribution of genetic material during cell division.
Define a mutation
> Mutations are a permanent alteration in the base DNA sequence of an organism.
> Types of Mutations:
1. Point Mutation: Change in a single nucleotide.
2. Insertions: Addition of one or more nucleotides.
3. Deletions: Removal of one or more nucleotides.
4. Duplications: Repetition of a segment of DNA.
> Causes of Mutations:
1. Spontaneous: Errors during DNA replication.
2. Induced: Environmental factors such as radiation or chemicals.
Mutations can cause genetic variation which can lead to changes in traits or functions. Which may result in beneficial, neutral, or harmful effects on the organism.
Explain the differences
between a gametic and somatic cell
> Gametic Cells (Gametes) are reproductive cells involved in sexual reproduction (sperm in males, eggs in females). Gametes are haploid, meaning they have one set of chromosomes. In humans, we have 23 chromosomes. Gametes carry genetic information to offspring during fertilisation. Gametes are produced through meiosis. They contribute to variation through giving a combination of parental genetic material and random assortment.
> Somatic Cells are non-reproductive cells making up the tissues and organs of the body (e.g., skin, muscle, brain cells). Somatic cells are diploid, meaning they have two sets of chromosomes. In humans, 46 chromosomes (23 pairs). Somatic cells form the body’s structure, perform daily functions, and maintain homeostasis. They are produced through mitosis. Somatic cells do not contribute to genetic variation between generations; not involved in reproduction.
Explain mutation inheritance in terms of somatic and gametic cells
Somatic mutations are mutations occurring in somatic (body) cells, excluding gametes (sperm and eggs).
They are not inherited by offspring because they affect only the individual in which they occur. A somatic mutation can occur at any time during an organism’s life, like melanoma.
Gametic mutations are mutations occurring in gametic (reproductive) cells (sperm in males, eggs in females).
Gametic mutations can be inherited by offspring because they contribute to the genetic makeup of the next generation, and effectively pass on the mutation to every cell of the offspring, potentially resulting in inherited genetic disorders, like cystic fibrosis.
Explain the difference between dominant and recessive alleles
> Dominant alleles are an allele that expresses its trait in the phenotype even if only one copy is present in the genotype. Because of this, it masks the effect of a recessive allele when both are present (heterozygous condition. Bb). Typically denoted by a capital letter. E.g. Trait: Brown eyes. Genotype: Bb (where B is dominant for brown eyes, b is recessive for blue eyes). Phenotype will equal brown eyes.
> Recessive alleles are an allele that only expresses its trait in the phenotype when two recessive copies are present (homozygous condition, bb). They are masked by the presence of a dominant allele. Typically denoted by a lowercase letter.
E.g. Trait: Blue eyes. Genotype: bb (where b is recessive for blue eyes).
Phenotype will equal blue eyes, which is observable only when no dominant allele is present.
Monohybrid Inheritance
The inheritance of a single gene.