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Mendelian Genetics
Gregor Mendel's two laws: Law of Segregation: the two alleles of a gene separate during gamete formation; each gamete receives one allele. Law of Independent Assortment: alleles for different genes assort independently into gametes (when on different chromosomes). Dominant allele masks recessive allele in the heterozygote. Monohybrid cross (Aa × Aa): 1 AA : 2 Aa : 1 aa (genotype); 3 dominant : 1 recessive (phenotype). Dihybrid cross (AaBb × AaBb): 9:3:3:1 phenotype ratio.
Genotype vs. Phenotype
Genotype: the genetic constitution of an organism (e.g., Aa). Phenotype: the observable trait (e.g., brown eyes). Phenotype = genotype × environment. Penetrance: the proportion of individuals with a genotype who express the associated phenotype. Expressivity: the degree to which a phenotype is expressed.
Hardy-Weinberg Equilibrium
In a large, randomly mating population with no selection, mutation, migration, or drift: p + q = 1 (allele frequencies); p² + 2pq + q² = 1 (genotype frequencies), where p = frequency of dominant allele A; q = frequency of recessive allele a. Deviations from HWE indicate evolutionary forces acting.
Molecular Genetics
Gene: a segment of DNA encoding a functional RNA or protein. Alleles: alternative forms of a gene at the same locus. Mutation: heritable change in DNA sequence. Types: point mutations (substitution, insertion, deletion), frameshift, nonsense, missense, splice-site. Epigenetics: heritable changes in gene expression without DNA sequence change (methylation, histone modification).
Glossary
Frequently Asked Questions
Law of Segregation (First Law): the two alleles of each gene separate during meiosis so each gamete receives only one allele per gene. Law of Independent Assortment (Second Law): alleles for different gene pairs assort independently into gametes — holds when genes are on different chromosomes (not linked). These laws predict: monohybrid cross (Aa × Aa) → 3:1 phenotype ratio; dihybrid cross (AaBb × AaBb) → 9:3:3:1. Modern exceptions: incomplete dominance, codominance, epistasis, linkage, pleiotropy, and polygenic inheritance all modify simple Mendelian ratios.
Genotype: the specific alleles an organism carries (e.g., Bb = heterozygous for brown eye gene). Phenotype: the observable trait expressed (e.g., brown eyes). Same genotype can give different phenotypes depending on environmental conditions (phenotypic plasticity). Same phenotype can arise from different genotypes (genetic heterogeneity). Penetrance: the fraction of individuals with a specific genotype who express the expected phenotype (complete penetrance = 100%; incomplete penetrance means some carriers don't show the trait). Expressivity: the degree of trait expression — variable expressivity means different carriers show different severity.
Hardy-Weinberg equilibrium predicts genotype frequencies in a population with no evolutionary change: p² (homozygous dominant AA) + 2pq (heterozygous Aa) + q² (homozygous recessive aa) = 1, where p = frequency of allele A and q = frequency of allele a (p+q = 1). Conditions: large population; random mating; no selection; no mutation; no gene flow. Real populations deviate from HWE due to these evolutionary forces. Deviation from HWE is detectable by chi-square test. Used to: estimate carrier frequency (2pq) from disease frequency (q²); detect selection or non-random mating; analyze population structure in forensics.
Point mutations (single base changes): synonymous (silent) — codon changes but same amino acid; missense — different amino acid; nonsense — premature stop codon → truncated protein. Frameshift mutations: insertions or deletions not in multiples of 3; shift reading frame → abnormal protein sequence from mutation point onward. Splice-site mutations: disrupt intron/exon boundary → abnormal mRNA splicing. Copy number variants (CNVs): duplications or deletions of larger segments. Chromosomal rearrangements: translocations, inversions, amplifications. Effects range from silent to lethal depending on location and nature. Mutations in tumor suppressor genes (TP53, RB1) or oncogenes (RAS, EGFR) drive cancer.