Genetics and Inheritance Patterns
Patterns of Inheritance
Mendel's Experiments
- Gregor Mendel (1822-1884) conducted groundbreaking work in genetics from a monastery garden in the Czech Republic.
- Key Points of Mendel's Research:
- Started studying pea plants in 1856.
- Chose pea plants due to their ability to self-pollinate, short generation time, large offspring numbers, and true breeding characteristics.
Key Vocabulary
- Character: A heritable feature (e.g., flower color, eye color).
- Trait: Each variant of a character (e.g., purple or white flowers).
Mendel's Observations
- Monohybrid Crosses:
- For instance, crossing purple and white flower traits resulted in offspring (F1 Generation) that were all purple.
- When F1 plants were self-pollinated, F2 Generation exhibited a 3:1 ratio of purple to white flowers.
- Dominant and Recessive Traits:
- Purple flower color (dominant) masked the expression of white flower color (recessive).
- Publication of his work in 1866 emphasized the inheritance of discrete "heritable factors" (now termed genes).
Patterns of Variation
- Continuous Variation: Characteristics show a range (e.g., human height).
- Discontinuous Variation: Characteristics appear in distinct forms (e.g., flower colors).
Laws of Inheritance
Learning Goals
- Examine the relationship between genotypes and phenotypes.
- Learn to use Punnett squares for predicting inheritance outcomes.
- Understand Mendel's laws of segregation and independent assortment.
- Explore methods of test crosses.
Genetics Terms
- Gene: Mendel's heritable factor governing a character (e.g., flower color).
- Alleles: Alternative versions of genes that determine traits (e.g., purple and white flower alleles).
- Genotype: The allelic makeup of an organism (e.g., TT, Tt, or tt).
- Phenotype: The expressed traits of an organism (e.g., purple or white flowers).
- Dominant Allele: Expressed if present; represented by uppercase letters.
- Recessive Allele: Masked by dominant allele; represented by lowercase letters.
Types of Genotypes
- Homozygous: Both alleles are the same (e.g., TT or tt).
- Heterozygous: Two different alleles (e.g., Tt).
Types of Crosses
- Monohybrid Cross: Parents differ in one trait (e.g., flower color).
- Dihybrid Cross: Parents differ in two traits.
- Punnett Square: A tool to predict genotype and phenotype ratios from genetic crosses.
Rules of Probability in Genetics
- Rule of Multiplication: Used to find the probability of multiple independent events occurring together.
- Rule of Addition: Used when considering the chance of an event occurring in various ways.
Mendel's Laws
Law of Segregation
- Three key rules:
- Each individual possesses two alleles for any character (one from each parent).
- Dominant alleles mask recessive alleles; homozygous dominance and heterozygosity show identical phenotypes.
- During gamete formation, alleles segregate so that each gamete carries one allele.
Law of Independent Assortment
- States that alleles for different traits segregate independently during gamete formation, applies to genes on different chromosomes.
Genetic Examples
- Frequency of Dominant Traits: Dominant traits are not necessarily more common in populations (e.g., polydactyly).
- Test Cross: Used to determine if an organism with a dominant phenotype is homozygous or heterozygous by crossing it with a homozygous recessive.
Extensions of the Laws of Inheritance
Advanced Concepts
Incomplete Dominance
- Heterozygote displays a phenotype that is intermediate (e.g., flower colors).
Codominance
- Both alleles are expressed (e.g., ABO blood types).
Multiple Alleles
- Genes exist in more than two variants (e.g., ABO blood group).
Polygenic Inheritance
- A character influenced by multiple genes leads to continuous traits (e.g., skin color).
Sex-Linked Genes
- Located on sex chromosomes, causing males (XY) to express traits with only one copy (hemizygous). Females (XX) require two copies for recessive traits.
Human Sex-Linked Disorders
- Commonly affect males due to the presence of only one X chromosome. Notable examples include hemophilia, color blindness, and Duchenne muscular dystrophy.
Summary
- Mendel proposed that alleles behave in dominant and recessive patterns, segregating into gametes independently. The existence of codominance and incomplete dominance exemplifies that phenomena can vary beyond simple Mendelian inheritance.
- Understanding these principles is crucial in genetics, facilitating predictions about inheritance patterns and traits.