APBIO

Heredity and Evolution

Heredity Questions Darwin Couldn’t Answer

  • Heredity Mechanism: Darwin pondered how heredity operates, contemporaneously while Gregor Mendel explored similar inquiries.

    • Jemules Theory:

      • Darwin proposed the existence of "jemules," tiny particles produced by body parts, believed to transfer traits during reproduction.

      • Limitations: Initial thoughts questioned if a trait could transfer fully (e.g., amputated parents leading to offspring without limbs).

      • Mixing: Jemules were thought to mix from parents leading to averages in traits (e.g., height).

      • Critique: Short + Tall parent theory failed, demonstrating extremes do not necessarily result in an average child.

  • Mendel's Findings:

    • Mendel's work laid foundational insights into heredity, though he and Darwin never collaborated.

  • Coin Flip Experiment:

    • Outcomes questioned fairness using Chi-Square tests (X²).

      • Observational data showed frequencies and required considerations on significance.

    • Chi-Square Analysis:

      • Defined as:

        • X² = Σ (O - E)² / E

        • Degrees of Freedom (DF) = outcomes - 1.

        • Goodness of fit assessed based on critical value and p-values to evaluate null hypothesis regarding observed vs. expected results.

Mendel and Punnett Squares

  • Mendel’s Experiment:

    • Used pea plants with male and female reproductive organs.

      • Pollen, containing two sperm cells, was manipulated to study trait inheritance (e.g., using artificial pollination).

    • Dominant and Recessive Traits:

      • Identified genotypes and phenotypes through experimentation.

      • Punnett Squares:

        • Introduced by Reginald Crundall Punnett to mathematically predict offspring traits.

        • Dominant alleles represented with capital letters, recessive with lowercase (e.g., RR for red, rr for white).

  • Genotypic and Phenotypic Ratios:

    • F1 generation showcases heterozygous traits; ratios of offspring determined from parental stock.

  • Characteristics:

    • Zygotes defined as diploid cells from fusing gametes.

    • Types of dominance:

      • Homozygous Dominant (AA), Homozygous Recessive (aa), Heterozygous (Aa).

  • Variability in Traits:

    • Recognizes lethal alleles and their consequences on f1 generation.

Mendel’s Rules

  • Law of Dominance: One dominant allele masks the effect of a recessive allele.

  • Law of Segregation: States two alleles for a trait separate during formation of gametes.

  • Law of Independent Assortment: Traits are inherited independently if they are situated on different chromosomes.

  • Violations of Mendel’s Claims:

    • Examples include incomplete dominance (traits blend) and codominance (both traits are expressed).

    • Blood Types: Exhibits co-dominance with A, B, AB, O classification.

  • Polygenic Traits: Traits influenced by multiple alleles, e.g., height and skin color, often exhibiting environmental influences but not altering the genetic equation.

Meiosis and Gametes

  • Meiosis:

    • Resulting from formation of gametes (sperms and eggs), contributing to genetic diversity, in contrast to mitosis which creates identical cells.

    • Chromosomal Count:

      • Humans have 46 chromosomes; gametes contain 23 chromosomes.

    • Reduction Division: Chromosomes split from diploid (46) to haploid (23).

  • Stages of Meiosis:

    • Includes prophase, metaphase, anaphase, and telophase, with meiosis resulting in unique combinations of genetic material from independent assortment and crossing over events.

  • Nondisjunction: A failure in chromosome separation resulting in genetic disorders.

Heredity in Evolution

  • Punnett Squares in Populations:

    • A method to predict allele distribution in successive generations, allowing for estimation of dominant and recessive traits in the gene pool.

  • Hardy-Weinberg Principle:

    • Establishes conditions for gene frequency stability and factors causing evolution if these criteria are violated (e.g., mutation, selection, migration).

  • Understood Equations: For allele and genotype frequencies used to clarify population equilibrium.

  • Genetic Drift:

    • Random shifts in allele frequency, leading to evolutionary changes over generations.

Meiosis Mistakes and Genetic Disorders

  • Karyotyping: Images of chromosomes used to identify genetic abnormalities.

  • Common Disorders:

    • Down Syndrome: Trisomy 21; Patau Syndrome: Trisomy 13; Edwards Syndrome: Trisomy 18.

  • Risks: Correlation between maternal age and incidence of chromosomal disorders.

Pedigrees and Genetic Mapping

  • Pedigree Analysis: Used to trace inheritance patterns using squares (males) and circles (females), distinguishing traits across generations.

  • Reproductive Isolation: Framework for understanding speciation processes, whether pre-zygotic or post-zygotic, based on various biological barriers.

  • Speciation Types:

    • Allopatric (geographical isolation) vs. Sympatric (reproductive isolation without geography).

Conclusion

  • Speciation Mechanism:

    • Defined species based on interbreeding capabilities, emphasizing genetic variations’ roles in evolution and adaptation.

    • Importance of isolation in driving evolutionary divergence and facilitating the emergence of new species over time.

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