Biology 1

Mendelian Genetics and Beyond

Introduction to Genetic Models

  • Every trait is controlled by a single gene model proposed by Mendel.
  • Traits represented by letters, e.g., dominant allele 'A' and recessive allele 'a'.
  • Only two alleles exist in the population for a particular trait.
    • Example: Normal pigmentation (A) vs. Albinism (a).
    • Dominant relationship:
    • Inherit 'A': Normal coloration.
    • Inherit 'aa': Albinism phenotype.

Albinism in Animals

  • Albinism observed across various animal species.
  • Recessive phenotype: Shows albinism only if genotype is 'aa'.
  • Dominant phenotype: Exhibits normal coloration if at least one dominant allele is present.

Limitations of Mendel's Rules

  • Many traits do not strictly follow Mendelian genetics.
  • Mendel's laws remain useful for fundamental inheritance understanding and Punnett square applications.
  • Need to explore non-Mendelian inheritance types for complexity.

Polygenic Inheritance

  • Many human traits (e.g., skin color, hair color, eye color, height) are governed by multiple genes.
  • Phenotypic differences arise from cumulative effects of several alleles:
    • Continuous variation observed in a normal distribution (bell curve).
    • Most people exhibit average traits, with fewer at extremes (very tall or very short).
Examples of Polygenic Traits
  • Height: Wide range indicating multiple gene interactions.
  • Skin Color: Also polygenic, showing a spectrum of pigmentation.
  • Eye Color: Controlled by multiple genes, but fewer combinations than height or skin color.

Melanin and Coloration

  • Color produced by melanin:
    • No melanin: Gray/blue eyes.
    • Low melanin: Green/hazel eyes.
    • High melanin: Dark brown eyes.
  • Variations arise due to genetic combinations affecting melanin production.

Pleiotropy

  • A single gene can influence multiple phenotypic traits.
  • Example: Cystic fibrosis arises from a single gene mutation affecting a protein responsible for salt ion transport, impacting:
    • Respiratory system.
    • Reproductive system.
    • Digestive system.
  • Pleiotropy vs. Polygenic Inheritance:
    • Polygenic: Many genes influence one trait.
    • Pleiotropy: One gene influences many traits.

Dominance and Lethal Alleles

  • Some dominant alleles lead to lethal homozygous conditions, e.g., achondroplasia (dwarfism).
  • Example: Manx gene in cats (tailless cats).
    • Taillessness (T) is heterozygous. Homozygous (TT) is lethal.

Multiple Alleles in Populations

  • A gene may have more than two alleles present in the population.
    • Each individual has two alleles for any given gene (diploid).
    • Example: Fruit flies with multiple eye color alleles, despite having only two alleles in one organism.

Blood Types as a Case Study

  • Human blood types illustrate multiple alleles and codominance.
    • Three alleles: A, B, and O.
    • A and B are codominant, O is recessive (represented as 'i').
Genotypes and Phenotypes in Blood Types
  1. Type A: Genotypes AA or Ai.
  2. Type B: Genotypes BB or Bi.
  3. Type AB: Must be genotype AB (express both sugars).
  4. Type O: Genotype ii (homozygous recessive).

Blood Compatibility and Transfusions

  • Blood type compatibility is crucial for safe transfusions:
    • Example: Type A has anti-B antibodies; transfusion from type B would trigger an immune response and attack resulting in possibly fatal clots.
    • Type O as the universal donor: Lacks surface antigens, hence not recognized as foreign.

Incomplete Dominance and Codominance

  • Incomplete Dominance: There is a blending of traits.
    • Example: Snapdragons produce red, white, or pink flowers from homozygous red (RR), homozygous white (WW), and heterozygous (RW).
    • In F2 generation: Phenotypic ratio 1:2:1.
  • Codominance: Both traits expressed simultaneously.
    • Example: Cattle with red and white fur; heterozygous phenotype is roan (both red and white displayed).

Conclusion

  • Understanding these genetic concepts beyond Mendelian rules is essential for comprehending the complexity of inheritance patterns in various organisms.