explain the terms gene, locus, allele, dominant, recessive, codominant, linkage, test cross, F1, F2, phenotype, genotype, homozygous and heterozygous

Topic 1 – Cell Structure

  • Prokaryotic vs eukaryotic cells – size, nucleus, organelles.
  • Key organelles: nucleus (DNA storage), mitochondria (ATP), chloroplasts (photosynthesis), endoplasmic reticulum (protein/lipid synthesis), Golgi apparatus (modification & sorting), lysosomes (digestion), vacuoles (storage), cytoskeleton (shape & transport).
  • Plasma membrane structure – phospholipid bilayer, fluid‑mosaic model, integral & peripheral proteins.
  • Cell wall in plants, fungi and bacteria – composition (cellulose, chitin, peptidoglycan) and function.

Topic 2 – Biological Molecules

  • Carbohydrates – monosaccharides, disaccharides, polysaccharides; energy storage (starch, glycogen) and structural roles (cellulose).
  • Proteins – amino‑acid structure, peptide bonds, levels of organisation, enzyme catalysis (active site, induced fit).
  • Lipids – fatty acids, triglycerides, phospholipids, steroids; role in membranes and energy storage.
  • Nucleic acids – DNA & RNA structure, nucleotides, base pairing.

Topic 3 – Enzymes

  • Enzyme structure – protein catalyst, active site specificity.
  • Factors affecting activity: temperature, pH, substrate concentration, enzyme concentration, inhibitors (competitive, non‑competitive).
  • Enzyme kinetics – Michaelis‑Menten equation, Vmax, Km.
  • Co‑enzymes & co‑factors (e.g., NAD⁺, metal ions).

Topic 4 – Cell Membranes & Transport

  • Diffusion, osmosis, facilitated diffusion, active transport (primary & secondary).
  • Transport proteins – channels, carriers, pumps.
  • Bulk transport – endocytosis (phagocytosis, pinocytosis) and exocytosis.
  • Membrane potential – ion gradients, Nernst equation, role in nerve impulse.

Topic 5 – Cell Cycle & Cell Division

  • Phases of the mitotic cycle – G₁, S, G₂, M (prophase, metaphase, anaphase, telophase) and cytokinesis.
  • Control mechanisms – cyclins, CDKs, checkpoints (G₁‑S, G₂‑M, spindle).
  • Meiosis – two successive divisions (Meiosis I & II), reductional vs equational division, formation of haploid gametes.
  • Key differences between mitosis and meiosis (chromosome number, genetic variation).

Topic 6 – Nucleic Acids & Protein Synthesis

DNA structure and replication

  • Double helix; antiparallel strands; base pairing (A–T, G–C).
  • Semi‑conservative replication – each daughter DNA contains one parental strand.
  • Key enzymes: DNA helicase, DNA polymerase (5’→3’ synthesis), primase, ligase, topoisomerase.
  • Telomeres protect chromosome ends; telomerase adds repeats in germ cells.

Transcription

  • RNA polymerase synthesises a complementary mRNA strand from DNA template.
  • In eukaryotes, primary transcript undergoes 5’ capping, poly‑A tail addition, and splicing to remove introns.

Translation

  • mRNA codons (triplets) are read by ribosomes; tRNA delivers the appropriate amino acid.
  • Polypeptide chain elongation, termination and post‑translational folding.

Topic 7 – Plant Transport

  • Water movement – cohesion‑tension theory, root pressure, transpiration pull.
  • Mineral transport – xylem (unidirectional, upward) and phloem (bidirectional, source to sink).
  • Regulation of stomatal opening (guard cells, ABA, light).

Topic 8 – Animal Transport

  • Circulatory system – heart structure, blood vessels, double circulation in mammals.
  • Blood components – plasma, red & white cells, platelets; haemoglobin function.
  • Exchange of gases and nutrients at capillaries; role of diffusion distance.

Topic 9 – Gas Exchange

  • Respiratory surfaces – lungs (alveoli), gills, skin.
  • Ventilation mechanisms – diaphragm, intercostal muscles, tidal volume.
  • Partial pressure gradients drive O₂ uptake and CO₂ removal.

Topic 10 – Infectious Disease & Immunity

  • Pathogen types – bacteria, viruses, fungi, protozoa; routes of transmission.
  • Innate immunity – physical barriers, phagocytes, inflammation, fever.
  • Adaptive immunity – B‑cell antibodies (humoral), T‑cell mediated response (cellular), memory cells, vaccination.
  • Examples of immune disorders – allergies, autoimmune disease, immunodeficiency.

Topic 11 – Respiration

  • Cellular respiration – glycolysis, link reaction, Krebs cycle, oxidative phosphorylation.
  • ATP yield (≈ 38 ATP per glucose in prokaryotes, 30‑32 ATP in eukaryotes).
  • Anaerobic pathways – lactic acid fermentation, alcoholic fermentation.
  • Regulation of respiration – substrate availability, ADP concentration, feedback inhibition.

Topic 12 – Photosynthesis

  • Overall equation: 6 CO₂ + 6 H₂O + light → C₆H₁₂O₆ + 6 O₂.
  • Light‑dependent reactions – thylakoid membranes, photosystems II & I, water splitting, ATP & NADPH formation.
  • Calvin cycle – CO₂ fixation (Rubisco), reduction, regeneration of RuBP.
  • Factors affecting rate – light intensity, CO₂ concentration, temperature.

Topic 13 – Homeostasis

  • Feedback mechanisms – negative (e.g., blood glucose regulation) and positive (e.g., oxytocin during labour).
  • Control of temperature – sweating, shivering, vasodilation/vasoconstriction.
  • Regulation of water balance – antidiuretic hormone (ADH), renal concentrating ability.

Topic 14 – Control (Nervous & Hormonal)

  • Nervous system – neuron structure, action potential generation, synaptic transmission.
  • Hormonal system – endocrine glands, hormone classification (peptide, steroid, amine), mechanisms of action.
  • Interaction between nervous and endocrine systems (e.g., hypothalamic‑pituitary axis).

Topic 15 – Evolution

  • Evidence for evolution – fossil record, comparative anatomy, molecular phylogeny.
  • Natural selection – variation, differential survival/reproduction, inheritance.
  • Speciation mechanisms – allopatric, sympatric, reproductive isolation.
  • Genetic drift, gene flow, mutation as sources of variation.

Topic 16 – Inheritance (Genetics & Inheritance)

Glossary of Key Terms

TermCambridge definition
GeneA segment of DNA that encodes a functional product (protein or RNA).
LocusThe fixed position of a gene on a chromosome.
AlleleOne of two or more alternative forms of a gene at the same locus.
Dominant alleleExpressed in both homozygous (AA) and heterozygous (Aa) genotypes.
Recessive alleleExpressed only when homozygous recessive (aa).
Codominant allelesBoth alleles are fully expressed in the heterozygote (e.g., IAIB = AB blood type).
Incomplete dominanceHeterozygote shows an intermediate phenotype (e.g., red × white snapdragon → pink).
LinkageGenes located close together on the same chromosome tend to be inherited together.
Recombination frequency (θ)θ = (Number of recombinant offspring ÷ Total offspring) × 100 % (1 % θ ≈ 1 cM).
Test crossCross of an individual of unknown genotype with a homozygous recessive (aa) to reveal the unknown genotype.
F1 generationFirst filial generation obtained by crossing the parental (P) generation.
F2 generationSecond filial generation obtained by inter‑crossing F1 individuals.
PhenotypeObservable characteristics resulting from genotype × environment interaction.
GenotypeGenetic constitution at a particular locus (e.g., AA, Aa, aa).
HomozygousTwo identical alleles at a locus (AA or aa).
HeterozygousTwo different alleles at a locus (Aa).

Monohybrid Cross (Mendelian Inheritance)

Consider a single gene with alleles A (dominant) and a (recessive).

Parental (P) crossGenotypeGametes
Parent 1AAA
Parent 2aaa

F1 generation: All offspring are Aa (heterozygous) → dominant phenotype.

F2 generation (Aa × Aa)

Aa
AAAAa
aAaaa

Genotypic ratio: 1 AA : 2 Aa : 1 aa

Phenotypic ratio (dominant : recessive): 3 : 1

Dihybrid Cross – Independent Assortment

Two unlinked genes: A/a and B/b.

ABAbaBab
ABAABBAABbAaBBAaBb
AbAABbAAbbAaBbAabb
aBAaBBAaBbaaBBaaBb
abAaBbAabbaaBbaabb

Phenotypic ratio: 9 : 3 : 3 : 1 (dominant A & dominant B : dominant A & recessive b : recessive a & dominant B : recessive a & recessive b).

Sex‑Linked Inheritance (X‑linked)

CrossGenotypes of offspringPhenotypic expectation
Colour‑blind mother (XcXc) × normal father (XY)Daughters: XcX (carriers); Sons: XcY (colour‑blind)50 % male colour‑blind, 0 % female colour‑blind
Normal mother (XX) × colour‑blind father (XcY)Daughters: X Xc (carriers); Sons: XY (normal)0 % colour‑blind in either sex; 50 % daughters carriers

Linkage & Genetic Mapping

  • Genes on the same chromosome are linked; recombination occurs only if crossing‑over separates them.
  • Parental (non‑recombinant) gametes retain the original allele combinations; recombinant gametes arise from crossing‑over.
  • Recombination frequency (θ) estimates map distance: 1 % θ ≈ 1 cM.

Example – Genes A and B are linked. Parental gametes: AB and ab. After crossing‑over, recombinant gametes Ab and aB appear at 10 % frequency.

Test Cross

  1. Cross the individual of unknown genotype with a homozygous recessive (aa).
  2. Interpret the offspring:

    • All dominant phenotype → unknown is AA (homozygous).
    • 1 : 1 ratio of dominant : recessive → unknown is Aa (heterozygous).

Non‑Mendelian Interactions

  • Incomplete dominance – heterozygote phenotype intermediate (e.g., snapdragon flower colour).
  • Codominance – both alleles expressed (e.g., ABO blood group IAIB = AB).
  • Epistasis – one gene masks the effect of another.

    • Example: In pea plants, gene A (flower colour) is epistatic to gene B (pigment production). AA bb plants are white because bb prevents pigment formation, giving a phenotypic ratio of 9 : 3 : 4 (purple : red : white).

  • Polygenic inheritance – many genes each contribute a small effect, producing a continuous distribution (e.g., human skin colour, height).

Pedigree Analysis (AO3)

  • Standard symbols: squares (male), circles (female), filled = affected, half‑filled = carrier (for recessive X‑linked).
  • Steps:

    1. Identify mode of inheritance (autosomal dominant, autosomal recessive, X‑linked dominant/recessive).
    2. Determine if the trait appears in every generation (dominant) or skips generations (recessive).
    3. Check sex distribution for X‑linked patterns.
    4. Calculate probability of a particular genotype for a given individual using the pedigree.

Sample Calculation – Recombination Frequency

In a test cross involving linked genes A and B, 200 offspring are produced. 30 are recombinant (Ab or aB).

θ = (30 ÷ 200) × 100 % = 15 % → map distance ≈ 15 cM.

Summary Checklist for Genetics Questions

  • Identify locus, alleles and their interaction (dominant, recessive, codominant, incomplete).
  • Draw correct Punnett squares for monohybrid, dihybrid, sex‑linked and linked‑gene crosses.
  • State expected F1 and F2 genotypic and phenotypic ratios.
  • Use a test cross to determine hidden heterozygosity.
  • Calculate recombination frequency and convert to centimorgans.
  • Analyse pedigrees to deduce inheritance pattern and genotype probabilities.
  • Explain epistasis, polygenic inheritance and the effect of mutations on phenotype.
  • Recall the steps of DNA → RNA → protein and the key molecular techniques (PCR, gel electrophoresis, DNA sequencing, CRISPR‑Cas9).

Suggested Diagrams (to be drawn by the learner)

  • Punnett square for a monohybrid cross (AA × aa) and the corresponding test cross (Aa × aa).
  • Dihybrid cross showing the 9 : 3 : 3 : 1 phenotypic ratio.
  • Linkage diagram with parental and recombinant gametes, indicating map distance.
  • Schematic of DNA → RNA → Protein (including transcription and translation steps).
  • Pedigree for an autosomal recessive disorder and one for an X‑linked trait.

Topic 17 – Genetic Technology

  • Recombinant DNA – cutting DNA with restriction enzymes, ligating into plasmids, transformation of bacteria.
  • Polymerase Chain Reaction (PCR) – denaturation, annealing of primers, extension by Taq polymerase; exponential amplification of a target fragment.
  • Gel electrophoresis – separation of DNA fragments by size; visualization with ethidium bromide or safe dyes.
  • DNA sequencing – Sanger method (chain‑termination) and next‑generation sequencing (NGS) basics.
  • CRISPR‑Cas9 – guide RNA directs Cas9 to a specific DNA sequence; double‑strand break repaired by non‑homologous end‑joining (knock‑out) or homology‑directed repair (knock‑in).
  • Applications: gene therapy, genetically modified crops, forensic DNA profiling, disease diagnostics.

Topic 18 – Evolution (Advanced)

  • Population genetics – Hardy‑Weinberg equilibrium, factors causing deviation (selection, mutation, migration, drift).
  • Phylogenetic trees – construction using morphological and molecular data; interpretation of branch lengths and common ancestors.
  • Speciation mechanisms revisited – reinforcement, hybrid zones, polyploidy in plants.

Topic 19 – Biodiversity & Conservation

  • Classification hierarchy – domain, kingdom, phylum, class, order, family, genus, species.
  • Conservation strategies – protected areas, captive breeding, genetic rescue, legislation (CITES).
  • Impact of human activities – habitat loss, invasive species, climate change, over‑exploitation.
  • Role of biodiversity in ecosystem stability and services.