Chapter 16: Genetics, Variation, and Gene Control (A-Level Biology)
Key Definitions: Cell Division and Genetics Basics
Fertilisation: The fusion of a male gamete (sperm) and a female gamete (egg) to form a
zygote.
Zygote: The diploid cell formed by the fusion of two haploid gametes during
fertilisation; it develops into an embryo.
Diploid: A cell or organism with two sets of chromosomes (2n), one from each parent.
Homologous Chromosomes: A pair of chromosomes (one maternal, one paternal) that
carry the same genes at the same loci but may have different alleles.
Haploid: A cell or organism with one set of chromosomes (n), typically gametes.
Meiosis: A type of cell division that reduces the chromosome number by half, producing
four genetically varied haploid gametes from one diploid cell.
Bivalent: A pair of homologous chromosomes joined together during prophase I of
meiosis.
Chiasma (pl. Chiasmata): The point where non-sister chromatids of homologous
chromosomes cross over and exchange genetic material during prophase I.
Crossing Over: The exchange of genetic material between non-sister chromatids of
homologous chromosomes at chiasmata, leading to recombination.
Reduction Division: The first division in meiosis (Meiosis I) where the chromosome
number is halved from diploid to haploid.
Locus (pl. Loci): The specific position of a gene on a chromosome.
Allele: An alternative form of a gene at the same locus; alleles can be dominant or
recessive.
Meiosis: Stages and Comparison with Mitosis
Meiosis consists of two divisions: Meiosis I (reduction division) and Meiosis II (similar to
mitosis).
Meiosis I:
Prophase I: Chromosomes condense; homologous chromosomes pair to form bivalents;
crossing over occurs at chiasmata.
Metaphase I: Bivalents line up at the equator; independent assortment occurs as pairs
align randomly.
Anaphase I: Homologous chromosomes separate and move to opposite poles
(centromeres intact).
Telophase I: Chromosomes reach poles; cytoplasm divides (cytokinesis); nuclear
envelope may reform briefly.
Meiosis II:
Prophase II: Chromosomes condense again (if nuclear envelope reformed).
Metaphase II: Chromosomes line up at the equator.
Anaphase II: Centromeres split; sister chromatids separate to poles.
Telophase II: Chromatids (now chromosomes) reach poles; nuclear envelopes reform;
cytokinesis produces four haploid cells.
Note: In many plants, cells proceed to Meiosis II without reforming the nuclear envelope or
nucleoli after Meiosis I, allowing faster division.
Differences Between Meiosis and Mitosis:
Mitosis: Produces two genetically identical diploid cells; one division; no crossing over
or independent assortment; for growth/repair/asexual reproduction.
Meiosis: Produces four genetically varied haploid cells; two divisions; involves crossing
over and independent assortment; for sexual reproduction.
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Sources of Genetic Variation
Genetic variation arises from processes that introduce differences in alleles or gene
combinations.
Source of
Genetic How It Causes Variation Effect
Variation
Exchange of segments between Creates new allele combinations on
Crossing Over non-sister chromatids during chromosomes (recombinants), increasing
prophase I of meiosis. diversity in gametes.
Random alignment of Shuffles maternal/paternal chromosomes
Independent
homologous pairs at metaphase into gametes; for n=23 in humans, 2²³ (~8
Assortment
I of meiosis. million) possible combinations.
Changes in DNA sequence
Random Introduces new alleles; can be beneficial,
(e.g., substitution, insertion) due
Mutation neutral, or harmful; basis for evolution.
to errors or mutagens.
Combines genetic material from two parents
Random Random fusion of any sperm
unpredictably; amplifies variation in
Fertilisation with any egg.
offspring.
Key Definitions: Inheritance Patterns
Genotype: The genetic makeup of an organism (e.g., alleles like Bb).
Homozygous: Having two identical alleles for a gene (e.g., BB or bb).
Heterozygous: Having two different alleles for a gene (e.g., Bb).
Phenotype: The observable characteristics resulting from genotype and environment.
Dominant: An allele that expresses its phenotype even in heterozygous form (e.g., B for
brown eyes).
Recessive: An allele that expresses only in homozygous form (e.g., b for blue eyes).
Multiple Alleles: More than two alleles for a gene in a population (e.g., ABO blood
groups: I^A, I^B, i).
Codominant: Both alleles in a heterozygote express fully (e.g., I^A I^B gives AB blood
type).
Monohybrid Inheritance: Inheritance of one gene/trait (e.g., Mendel's pea color).
Genetic Diagrams and Punnett Squares
Genetic Diagram: A visual representation showing inheritance, including parental
genotypes, gametes, offspring genotypes/phenotypes, and ratios.
Punnett Square: A grid used to predict offspring genotypes from parental gametes in
crosses.
Rules for Genetic Diagrams:
1. State parental phenotypes and genotypes.
2. Show gametes (circle them).
3. Use Punnett square or lines to show fertilisation.
4. State offspring genotypes, phenotypes, and ratios.
5. Use standard symbols: capitals for dominant, lowercase for recessive.
F1 and F2 Generations:
F1 (First Filial): Offspring of parental (P) generation.
F2 (Second Filial): Offspring of F1 cross.
Test Cross: Cross a dominant phenotype (e.g., Bb?) with homozygous recessive (bb) to
determine genotype; 1:1 ratio if heterozygous, all dominant if homozygous.
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Monohybrid Inheritance
Advanced Inheritance Patterns
Sex Chromosomes: X and Y; females XX, males XY; determine sex.
Sex-Linked Gene: Gene on X or Y (mostly X); e.g., haemophilia on X.
Carrier: Heterozygous individual (usually female for X-linked) who has the recessive
allele but no phenotype.
Dihybrid Inheritance: Inheritance of two genes; if unlinked, 9:3:3:1 ratio (e.g., pea
shape and color: round yellow RRYY x wrinkled green rryy → F1 RrYy → F2 9 round
yellow:3 round green:3 wrinkled yellow:1 wrinkled green).
Epistasis: One gene masks another's expression (e.g., in coat color: gene for pigment
production epistatic to color gene; homozygous recessive for pigment gives albino
regardless of color alleles).
Autosomal Linkage and Crossing Over: Genes on same autosome (non-sex
chromosome) inherited together unless crossing over separates them (e.g., in fruit flies,
body color and wing size linked; crossing over produces recombinants).
Parental Type: Offspring with same allele combination as parents.
Recombinant: Offspring with new combinations due to crossing over.
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Predicting Inheritance: Dihybrid Crosses | Cambridge (CIE) A Level ...
Chi-Squared Test
The chi-squared (χ²) test is a statistical tool to determine if observed results differ significantly
from expected results (e.g., in genetic crosses) due to chance or other factors like linkage.
How It Works:
1. State null hypothesis: No significant difference between observed (O) and expected (E)
(e.g., fits 3:1 ratio).
2. Calculate χ² = Σ (O - E)² / E for each category.
3. Degrees of freedom (df) = number of categories - 1.
4. Compare χ² to critical value from table (usually at p=0.05; if χ² > critical, reject null –
significant difference).
Example: Monohybrid cross expected 3:1 (75 dominant:25 recessive). Observed: 71:29. χ² = (71-
75)²/75 + (29-25)²/25 = 0.213 + 0.64 = 0.853. df=1, critical=3.84. 0.853 < 3.84 → accept null;
fits ratio.
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Chi-squared test - Post 16 Biology (A Level, Pre-U, IB, AP Bio)
Specific Genes and Associated Conditions (A-Level Level)
TYR Gene, Tyrosinase, Albinism: TYR on chromosome 11 encodes tyrosinase, an
enzyme for melanin synthesis. Recessive mutations cause oculocutaneous albinism (lack
of pigment in skin, hair, eyes; vision issues).
HBB Gene, Haemoglobin, Sickle Cell Anaemia: HBB on chromosome 11 encodes
beta-globin for haemoglobin. Recessive mutation (glutamic acid → valine) causes sickle-
shaped RBCs; heterozygotes resistant to malaria.
F8 Gene, Factor VIII, Haemophilia: F8 on X chromosome encodes clotting factor VIII.
X-linked recessive mutations cause haemophilia A (impaired clotting, bleeding).
HTT Gene, Huntingtin, Huntington's Disease: HTT on chromosome 4 encodes
huntingtin protein (nerve cell function). Dominant mutation (CAG repeats >36) causes
neurodegenerative disease (movement/cognitive decline, onset ~40s).
Le Gene, Gibberellin, Stem Elongation: Le in peas encodes enzyme for gibberellin
(GA) synthesis, a hormone promoting stem growth. Recessive le causes dwarfism (short
stems due to low GA).
Gene Control in Prokaryotes
Beta-Galactosidase: Enzyme breaking lactose into glucose/galactose; encoded by lacZ
in lac operon.
Structural Gene: Codes for proteins/enzymes (e.g., lacZ, lacY, lacA in lac operon).
Regulatory Gene: Codes for proteins controlling structural genes (e.g., lacI for
repressor).
Operon: Cluster of structural genes with shared promoter/regulator (e.g., lac operon).
Lac Operon: In E. coli, controls lactose metabolism. Sequence of Working Principle:
1. No lactose: Repressor (from lacI) binds operator, blocking RNA polymerase from
promoter → no transcription.
2. Lactose present: Lactose binds repressor, changing shape → repressor detaches.
3. RNA polymerase binds promoter → transcribes structural genes → enzymes
produced.
4. cAMP-CAP activator binds promoter when glucose low, enhancing transcription.
Inducible Enzyme: Produced only when substrate present (e.g., beta-galactosidase in lac
operon).
Repressible Enzyme: Produced unless end-product represses (e.g., tryptophan operon).
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Lac operon- Definition, structure, Inducers, diagram
Gene Control in Eukaryotes
Transcription Factors: Proteins binding DNA to activate/repress transcription. Specific
(bind enhancers/repressors) or general (assemble at promoter). Move to nucleus, bind
sites → enable RNA polymerase.
How Gibberellin Activates Transcription of Amylase Gene
In cereal seeds (e.g., barley):
1. Gibberellin (GA) from embryo diffuses to aleurone layer.
2. GA binds receptor, degrading DELLA repressor protein.
3. Transcription factor (e.g., GAMYB) freed, binds promoter of amylase gene.
4. RNA polymerase transcribes amylase gene → amylase enzyme produced.
5. Amylase hydrolyses starch to sugars for germination energy.