Gregor Mendel: Monk and naturalist who established principles of heredity using pea plants.
Characteristics Studied: Flower color (purple vs. white), seed shape, etc.
Inheritance Theory: Developed through quantitative analysis of offspring ratios from specific crosses.
Key Concepts:
Law of Segregation: Two alleles for each character segregate during gamete formation.
Genotypic Ratio: Mendel found a 3:1 ratio in F2 generation for dominant vs. recessive traits.
Probability Laws: Genetics problems can be solved using probability rules (similar to games of chance).
Example: Predicting offspring ratios using Punnett squares.
Genetic Crosses:
Monohybrid Crosses: One trait. Predicts 3:1 ratio in F2.
Dihybrid Crosses: Two traits. Predicts 9:3:3:1 ratio in F2.
Beyond Mendelian Genetics: Many traits do not follow simple dominant/recessive patterns.
Polygenic Inheritance: Traits controlled by multiple genes (e.g., skin color, height).
Pleiotropy: One gene affecting multiple traits (e.g., sickle-cell disease).
Epistasis: One gene affects the expression of another.
Mendelian Patterns in Humans: Some human traits follow Mendelian inheritance (e.g., albinism, cystic fibrosis).
Pedigrees: Used to trace inheritance of traits in families.
Calculating Risks: Predicting genotype probabilities based on family history (e.g., cystic fibrosis risk).
Independent Assortment: Genes on different chromosomes assort independently during gamete formation.
Testcross: Cross between an individual with unknown genotype and a homozygous recessive individual to determine genotype of the former.
Plant Examples: Mendel used true-breeding plants to analyze traits orderly to see ratios of traits.
Monohybrid Cross - 3:1 ratio (F2 generation).
Dihybrid Cross - 9:3:3:1 ratio (F2 generation).
Testcross Outcome: Helps determine unknown genotype based observed offspring phenotypes.
Genotype: The genetic makeup (PP, Pp, pp).
Phenotype: Observable trait (purple or white flowers).
Homozygous: Organism with identical alleles.
Heterozygous: Organism with different alleles.
Chromosomes: Structures made of DNA and proteins that contain genes.
Chromosomal Theory of Inheritance: Genes are located on chromosomes and segregate during meiosis.
Sex Chromosomes: X and Y chromosomes determine sex in many organisms.
X-Linked Traits: Traits carried on the X chromosome; often affect males more as they have only one X.
Linkage: When genes are located close together on the same chromosome, they tend to be inherited together.
Recombination Frequency: Calculated to determine how far apart genes are on a chromosome, often expressed in units of map distance.
Aneuploidy: Abnormal number of chromosomes due to nondisjunction during meiosis.
Examples: Down syndrome (trisomy 21), Turner syndrome (monosomy X).
Mutations: Changes in chromosome structure can lead to gene duplications, deletions, inversions, and translocations.
These mutations can impact an organism's phenotype and can cause genetic disorders.
Gene: A segment of DNA that encodes for a protein.
Allele: Different forms of a gene.
Phenotype: Observable characteristics resulting from genotype.
Genotype: Specific allele combinations an organism carries.
Karyotype: A display of the complete set of chromosomes in an organism.
Nondisjunction: Failure of homologous chromosomes to separate properly during cell division.