BackGenetic Inheritance and Mendelian Principles: Structured Study Notes
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Genetics and Heredity
Introduction to Genetics
Genetics is the study of heredity, the process by which parents pass genes and traits to their offspring. Sexual reproduction introduces genetic diversity through mechanisms such as crossing-over, independent assortment, and mate selection.
Genotype: The genetic makeup of an organism; the set of genes it possesses.
Phenotype: The observable traits or characteristics of an organism, determined by its genotype.
Example: In pea plants, flower color (purple or white) is a phenotype determined by the genotype (PP, Pp, or pp).
Genotype Dictates Phenotype
Chromosomal Basis
The genome consists of pairs of homologous chromosomes, each carrying genes at specific locations called loci. Variants of a gene are known as alleles.
Locus: The specific location of a gene on a chromosome.
Allele: Different forms of a gene found at the same locus.
Example: The allele for white flowers (locus for flower color) may be present on one chromosome, while the allele for purple flowers is on the homologous chromosome.
Pea Plants as a Model Organism
Why Pea Plants?
Pea plants were chosen for genetic studies due to their short generation times and the ability to produce large numbers of offspring. They can undergo self-pollination or cross-pollination, making them ideal for controlled genetic experiments.
Traits studied include seed shape, seed color, flower color, pod shape, pod color, and stem height.
Gregor Mendel and His Experiments
Methodology
Gregor Mendel systematically directed pollination in pea plants and recorded the resulting offspring's phenotypes. His work laid the foundation for understanding the chromosomal basis of inheritance.
Cross-pollination involves transferring pollen from one plant to another after removing the stamen from the recipient plant.
Recording Pea Plant Phenotypes
Generational Analysis
Mendel began with true-breeding plants (P generation) and observed the F1 and F2 generations:
P Generation: True-breeding parents (e.g., purple or white flowers).
F1 Generation: All offspring had the same phenotype (e.g., all purple flowers).
F2 Generation: Offspring showed a mixture of phenotypes, typically in a 3:1 ratio.
Mendel's Four Principles
Key Principles
1. Alternative Versions of Genes: Different genotypes account for variations in traits (phenotypes).
2. Law of Dominance: If two alleles are present, only one is expressed (dominant), while the other is masked (recessive).
3. Principle of Segregation: During meiosis, homologous chromosomes (and thus alleles) are separated into different gametes.
4. Independent Assortment: Genes located on different chromosomes are inherited independently of each other.
Alternative Versions of Genes
Genotype and Phenotype Ratios
Genotype is the combination of two alleles for a specific gene. For example, the alleles for flower color can be PP (homozygous dominant), Pp (heterozygous), or pp (homozygous recessive).
Phenotype | Genotype | Ratio |
|---|---|---|
Purple | PP, Pp | 3 |
White | pp | 1 |
Law of Dominance
Dominant and Recessive Alleles
Even if alleles differ, only the dominant allele is expressed in the phenotype. The recessive allele is masked unless both alleles are recessive.
Example: For cherries, AA and Aa produce red cherries (dominant), while aa produces yellow cherries (recessive).
Law of Segregation
Gamete Formation
Gametes are haploid and contain only one set of chromosomes/genes/alleles due to the separation of homologous chromosomes during meiosis.
Homozygous: Identical alleles for a trait.
Heterozygous: Different alleles for a trait.
Self-Pollination of Heterozygous Plants
Genotype and Phenotype Distribution
Self-pollination of heterozygous plants (e.g., Pp) results in offspring with the following genotype ratios:
25% homozygous dominant (PP)
50% heterozygous (Pp)
25% homozygous recessive (pp)
Phenotype ratio: 3 purple : 1 white
Punnett Squares
Visualizing Heredity
Punnett squares are used to predict the genotypes and phenotypes of offspring from genetic crosses.
Monohybrid Cross: Involves a single gene (e.g., Gg x Gg).
Dihybrid Cross: Involves two genes (e.g., RrYy x RrYy).
Example:
Cross | Genotype Ratio | Phenotype Ratio |
|---|---|---|
YY x yy | 100% Yy | 100% yellow |
YY x Yy | 50% YY, 50% Yy | 100% yellow |
Yy x yy | 50% Yy, 50% yy | 50% yellow, 50% green |
Independent Assortment
Genetic Diversity
Each pair of homologous chromosomes lines up independently during meiosis, resulting in different combinations of maternal and paternal chromosomes in gametes.
Dihybrid Crosses: Crosses involving two genes, leading to 16 possible genotype combinations in the offspring.
Genotype | Phenotype |
|---|---|
RRYY, RRYy, RrYY, RrYy | Round, yellow |
RRyy, Rryy | Round, green |
rrYY, rrYy | Wrinkled, yellow |
rryy | Wrinkled, green |
Assortment of Alleles on the Same Chromosome
Linked Genes
Alleles on the same chromosome are likely to be inherited together, unlike alleles on different chromosomes, which assort independently. This affects genetic diversity and the outcome of dihybrid crosses.
Review of Dihybrid Crosses
Practice Problems
Set up a dihybrid cross between homozygous tall, yellow-seeded plants (TTYY) and homozygous short, green-seeded plants (ttyy). Complete the Punnett square and determine the phenotype ratio.
Allow the F1 generation to self-pollinate and complete the Punnett square for the F2 generation. Determine the phenotype ratio.
Deviations from Mendel's Rules
Complex Genetic Behavior
Incomplete Dominance: Neither allele is completely dominant; heterozygotes show an intermediate phenotype.
Codominance: Both alleles are expressed equally in the phenotype.
Multiple Alleles: More than two alleles exist for a gene, increasing possible genotypes and phenotypes.
Polygenic Inheritance: Multiple genes contribute to a single trait, resulting in continuous variation.
Nature vs. Nurture
Environmental Influence
Gene expression can be influenced by environmental conditions, demonstrating that both genetics and environment contribute to phenotype.
Summary Table: Mendelian Principles
Principle | Description | Example |
|---|---|---|
Alternative Versions of Genes | Genotypes account for trait variation | PP, Pp, pp for flower color |
Law of Dominance | Dominant allele masks recessive | Aa produces red cherries |
Law of Segregation | Alleles separate during gamete formation | Gametes carry one allele per gene |
Independent Assortment | Genes on different chromosomes assort independently | Dihybrid cross results |
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