Key Terms
Genotype: The genetic makeup of an organism; the combination of alleles.
Phenotype: The observable physical or biochemical characteristics of an organism; expressed traits resulting from the genotype.
Mendel's Contributions
Gregor Mendel: Conducted experiments with pea plants in the mid-1800s, laying the foundation for genetics.
Mendel’s Laws:
Law of Segregation: Two alleles for a trait segregate during gamete formation (meiosis) and reunite during fertilization.
Law of Independent Assortment: Different traits assort independently of each other during gamete formation.
Punnett Squares
A grid used to predict the genotypes and phenotypes of offspring from genetic crosses.
Example: A cross between two heterozygous black-coated dogs (Bb) yields:
Genotypic Ratio: 1 BB : 2 Bb : 1 bb
Phenotypic Ratio: 3 Black : 1 Brown
Types of Genetic Traits
Mendelian Traits: Traits governed by a single gene (e.g., fur color) and unaffected by environmental factors.
Complex Traits: Traits influenced by multiple genes and environmental factors (e.g., height, skin color).
Pleiotropy: A single gene affects multiple traits (e.g., a single gene influencing both coat color and head shape in dogs).
Polygenic Traits: Traits controlled by multiple genes (e.g., human skin color).
Codominance: Both alleles are expressed equally in the phenotype (e.g., AB blood type).
Incomplete Dominance: The phenotype is a blend of the two traits (e.g., red and white flowers produce pink offspring).
Epistasis: One gene's allele affects the expression of another gene (e.g., Labrador retriever coat color).
Environmental Influence
External and internal environments can affect genetic expression leading to variations in phenotype such as temperature sensitivity in Siamese cats' fur coloration.
Genetic Disorders
Cystic Fibrosis: A Mendelian disorder with genotypes LL (normal) vs. ll (affected). The probability of offspring with cystic fibrosis when two heterozygous individuals mate is 25%.
Application of Genetics in Disease
Understanding genetic contributions to human diseases (e.g., heart disease, diabetes) can lead to personalized medicine and preventive measures via genetic testing and intervention strategies.
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