Meiosis, Genetics & Inheritance
Download PDFTopics Covered in This Guide
- D2.1 Meiosis — chromosome behaviour in meiosis I and II, crossing over at chiasmata, independent assortment, genetic variation
- D2.2 Inheritance — Mendel’s laws, monohybrid and dihybrid crosses, sex-linkage, codominance (ABO), incomplete dominance
- D2.3 Gene Pools & Speciation — allele frequency, Hardy-Weinberg principle (qualitative), allopatric and sympatric speciation
- MCQ Practice — styled like real IB Paper 1 questions
- Exam Alerts — the exact traps that cost marks in D2 questions
Aligned to IB Biology 2025 syllabus — D2.1 Meiosis — D2.2 Inheritance — D2.3 Speciation
Jump to section: Meiosis · Inheritance Patterns · Gene Pools & Speciation · MCQ Practice · Exam Strategy
Section 1: Meiosis (D2.1)
Overview
Meiosis is a specialised form of cell division that produces four genetically unique haploid cells from one diploid parent cell. It occurs in the gonads (testes and ovaries in animals) and is the basis of sexual reproduction.
Meiosis consists of two successive divisions — Meiosis I and Meiosis II — each with its own prophase, metaphase, anaphase, and telophase.
Meiosis at a Glance
| Division | What Separates | Starting Ploidy | Ending Ploidy |
|---|---|---|---|
| Meiosis I (reductional) | Homologous chromosomes | (but chromosomes still double-stranded) | |
| Meiosis II (equational) | Sister chromatids | (single-stranded chromosomes) |
After meiosis I, the chromosome number is halved. After meiosis II, the chromatids are separated — the outcome mirrors a mitotic division of a haploid cell.
DNA Replication Before Meiosis
Before meiosis begins, the cell undergoes a normal S phase of interphase — DNA is replicated so that each chromosome now consists of two identical sister chromatids joined at the centromere. This replication is essential; it provides the material for crossing over.
Exam Alert: DNA replication occurs once before meiosis begins, not before each division. There is no S phase between meiosis I and meiosis II. A common exam trap asks which event separates the two phases — the answer is that there is only a brief interkinesis, with no DNA replication.
Meiosis I — Reductional Division
The key distinction of meiosis I is that homologous chromosomes (not sister chromatids) are separated.
Prophase I
This is the longest and most complex phase of meiosis. Several critical events occur:
- Chromosomes condense and become visible under a light microscope.
- Homologous chromosomes pair up — each pair of homologues comes together in a process called synapsis, forming a bivalent (a tetrad of four chromatids: two from each homologue).
- Crossing over occurs — non-sister chromatids of homologous chromosomes exchange corresponding segments of DNA at points called chiasmata (singular: chiasma).
- The nuclear envelope breaks down.
- Spindle fibres form and begin attaching to centromeres.
Crossing Over — Key Terms
| Term | Definition |
|---|---|
| Bivalent | A pair of synapsed homologous chromosomes (4 chromatids total) |
| Chiasma (pl. chiasmata) | The physical point where crossing over has occurred between non-sister chromatids |
| Crossing over | The exchange of corresponding DNA segments between non-sister chromatids of homologous chromosomes |
| Non-sister chromatids | A chromatid from one homologue paired with a chromatid from the other homologue |
Metaphase I
- Bivalents (pairs of homologous chromosomes) align along the metaphase plate (cell equator).
- Spindle fibres from opposite poles attach to the centromeres of each homologue in a bivalent.
- The orientation of each bivalent is random — this is the physical basis of independent assortment.
Anaphase I
- Homologous chromosomes are pulled to opposite poles by spindle fibres.
- Sister chromatids remain joined at their centromeres — they do not separate yet.
- Each pole now has a haploid set of chromosomes, but each chromosome is still double-stranded (two chromatids).
Telophase I and Cytokinesis
- Nuclear envelopes may reform around each haploid set.
- Cytokinesis divides the cell into two haploid cells.
- The cells enter a brief interkinesis — there is no DNA replication.
Meiosis II — Equational Division
Meiosis II is essentially a mitotic division of the two haploid cells produced by meiosis I.
| Phase | Key Events |
|---|---|
| Prophase II | Chromosomes recondense; spindle fibres reform; nuclear envelope breaks down |
| Metaphase II | Individual chromosomes (each with two chromatids) align at the equator |
| Anaphase II | Sister chromatids separate — pulled to opposite poles |
| Telophase II | Nuclear envelopes reform; cytokinesis produces four haploid cells |
The final result: four haploid cells, each genetically unique.
Sources of Genetic Variation in Meiosis
Meiosis generates genetic variation through three mechanisms:
Three Sources of Variation
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Crossing over (Prophase I) — segments of DNA are exchanged between homologous chromosomes, creating new combinations of alleles (recombinant chromosomes). Multiple chiasmata can form per bivalent.
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Independent assortment (Metaphase I) — the orientation of each bivalent at the metaphase plate is random and independent of all other bivalents. For an organism with chromosome pairs, there are possible chromosome combinations in the gametes. For humans (): possible combinations from independent assortment alone.
-
Random fertilisation — any gamete from one parent can fuse with any gamete from the other parent, multiplying the variation further.
Significance for IB: When an exam question asks about the “significance of meiosis”, the expected answer centres on the generation of genetic variation (through crossing over and independent assortment) and the maintenance of chromosome number across generations (halving chromosome number in gametes so fertilisation restores the diploid number).
Meiosis Stages — Full Summary Diagram
Section 2: Inheritance Patterns (D2.2)
Key Terminology
Before working through genetic crosses, master the vocabulary — IB mark schemes are precise about these terms.
Essential Genetics Vocabulary
| Term | Definition |
|---|---|
| Gene | A heritable unit of information; a specific sequence of DNA that codes for a polypeptide or functional RNA |
| Allele | A variant form of a gene, occupying the same locus on homologous chromosomes |
| Locus | The specific position of a gene on a chromosome |
| Genotype | The alleles present in an organism (e.g., , ) |
| Phenotype | The observable/measurable characteristics of an organism |
| Homozygous | Both alleles at a locus are the same (e.g., or ) |
| Heterozygous | The two alleles at a locus differ (e.g., ) |
| Dominant | An allele whose effect is expressed in both heterozygous and homozygous conditions |
| Recessive | An allele whose effect is only expressed in the homozygous condition |
| Codominance | Both alleles are fully expressed in the heterozygote — both phenotypes are visible simultaneously |
| Incomplete dominance | The heterozygote shows an intermediate phenotype between the two homozygotes |
| Carrier | A heterozygous individual who carries a recessive allele but does not express the associated phenotype |
Mendel’s Laws
Law of Segregation (Monohybrid Inheritance)
Each individual carries two alleles for each gene. During gamete formation, the two alleles segregate so that each gamete carries only one allele.
This is the basis of monohybrid crosses. Alleles are written as letters: dominant allele as upper case (), recessive allele as lower case ().
Law of Independent Assortment (Dihybrid Inheritance)
The alleles of two different genes assort into gametes independently of one another, provided the genes are on different (non-homologous) chromosomes.
This is the basis of dihybrid crosses. Note that genes on the same chromosome (linked genes) do not independently assort — this is a key HL concept.
Monohybrid Cross — Worked Example
Example: Pea seed colour (yellow dominant over green )
Cross: heterozygous yellow () × heterozygous yellow ()
Step 1 — Parental genotypes:
Step 2 — Gametes produced by each parent:
Parent 1 gametes: or
Parent 2 gametes: or
Step 3 — Punnett square:
Step 4 — Genotype ratio:
Step 5 — Phenotype ratio: yellow : green =
(Both and produce yellow phenotype; only produces green phenotype.)
Testcross
A testcross crosses an individual of unknown genotype with a homozygous recessive individual (). The ratio of offspring phenotypes reveals the unknown genotype.
| Unknown Genotype | Cross | Offspring Ratio |
|---|---|---|
| Homozygous dominant () | All dominant phenotype (all ) | |
| Heterozygous () | 1 dominant : 1 recessive () |
Exam Alert — Testcross Language: IB mark schemes require you to state the testcross organism is homozygous recessive, not just “recessive”. The distinction matters because the term “recessive” alone could imply heterozygous. Always write: “crossed with a homozygous recessive individual.”
Dihybrid Cross — Worked Example
Example: Pea seed colour () and seed shape ( round dominant over wrinkled)
Cross: double heterozygote × double heterozygote ()
Gametes for each parent (using FOIL or a 4×4 Punnett square):
Each parent produces four gamete types: , , , in equal proportions.
Expected phenotype ratio from :
This 9:3:3:1 ratio is the hallmark of a dihybrid cross with two independently assorting genes, each showing simple dominance.
Punnett square (4×4):
Count the phenotypes: 9 with at least one and one (yellow round), 3 with but (yellow wrinkled), 3 with but at least one (green round), 1 with and (green wrinkled).
Codominance — ABO Blood Groups
ABO blood groups are controlled by the gene with three alleles: , , and .
- and are codominant to each other — both alleles are fully expressed
- is recessive to both and
ABO Blood Group Genotypes and Phenotypes
| Phenotype (Blood Type) | Possible Genotypes |
|---|---|
| A | or |
| B | or |
| AB | (codominance — both A and B antigens present) |
| O | (homozygous recessive — no A or B antigens) |
ABO Cross Example
A mother has blood type A (genotype ) and a father has blood type B (genotype ). What blood types are possible in their children?
Punnett square:
| (AB) | (B) | |
| (A) | (O) |
Possible offspring blood types: A, B, AB, and O — all four types are possible (each with probability 1/4).
Incomplete Dominance
In incomplete dominance, the heterozygote shows a phenotype intermediate between the two homozygous phenotypes. Neither allele is dominant or recessive.
Example: Snapdragon flower colour
- = red flowers
- = white flowers
- = pink flowers (intermediate)
Exam Alert — Codominance vs Incomplete Dominance:
- Codominance: Both allele products are fully expressed — you can detect both simultaneously (e.g., type AB blood has both A and B antigens; a roan cow has both red and white hairs)
- Incomplete dominance: The heterozygote shows a blend/intermediate phenotype not seen in either homozygote (e.g., pink snapdragons from red × white cross)
These are frequently confused on Paper 1. The key question is: “Can you detect both original phenotypes in the heterozygote?” If yes → codominance. If no, and you see a blend → incomplete dominance.
Sex-Linked Inheritance (X-linked Traits)
In humans, the sex chromosomes are (larger, gene-rich) and (smaller, fewer genes). Genes located on the X chromosome but not on the Y chromosome are called X-linked (or sex-linked).
Because males have only one X chromosome (hemizygous), they express X-linked recessive traits whenever the allele is present on their single X chromosome — there is no second X to “mask” a recessive allele.
Notation for X-linked genes:
- = dominant allele (e.g., normal blood clotting)
- = recessive allele (e.g., haemophilia)
- = homozygous dominant female (normal)
- = heterozygous carrier female (normal phenotype, carries recessive allele)
- = affected female (recessive phenotype)
- = normal male
- = affected male (hemizygous — only one X allele)
X-linked Haemophilia Cross
A carrier female () × normal male ()
Gametes: Female produces and ; Male produces and
Punnett square:
| (normal female) | (carrier female) | |
| (normal male) | (haemophiliac male) |
Phenotype ratio: 1 normal female : 1 carrier female : 1 normal male : 1 haemophiliac male
Key point: 1/2 of all sons will be affected; 0 daughters will be affected (but 1/2 will be carriers). Haemophilia is more common in males because males only need one copy of the recessive allele.
IB Exam Language for Sex-linkage: When asked to explain why X-linked recessive conditions are more common in males, the expected answer is: males are hemizygous for X-linked genes — they have only one copy of the X chromosome and therefore express any allele on it, whether dominant or recessive. Do not simply write “boys only have one X chromosome” without explaining the hemizygous consequence.
Pedigree Analysis
IB often presents a pedigree chart (family tree diagram) and asks you to determine the mode of inheritance.
Pedigree Clues — Mode of Inheritance
| Observation | Likely Conclusion |
|---|---|
| Trait skips generations | Recessive |
| All affected individuals have at least one affected parent | Dominant |
| More affected males than females | X-linked recessive |
| Affected father has all affected daughters, no affected sons | X-linked dominant |
| Unaffected parents have affected child | Recessive (both parents are carriers) |
| Male-to-male transmission present | Autosomal (NOT X-linked — Y is required for male-to-male) |
Section 3: Gene Pools & Speciation (D2.3) HL
Gene Pools and Allele Frequency
A gene pool is the total set of all alleles of all genes present in a population at a given time.
Allele frequency is the proportion of a particular allele among all alleles of that gene in the population.
Example: In a population of 100 diploid individuals, if 60 carry the allele out of 200 total alleles: allele frequency of
Hardy-Weinberg Principle (Qualitative)
The Hardy-Weinberg principle states that allele and genotype frequencies in a population remain constant from generation to generation in the absence of evolutionary influences.
Hardy-Weinberg Equilibrium Conditions (MARGE)
A population is in Hardy-Weinberg equilibrium only if all of the following conditions are met:
- Mating is random (no sexual selection)
- Allele frequencies are not altered by mutation
- Random genetic drift is negligible (population is very large)
- Gene flow does not occur (no migration in or out)
- Evolution is not occurring (no natural selection)
Real populations virtually never meet all five conditions, so Hardy-Weinberg equilibrium is a theoretical baseline.
IB Requirement for D2.3: The IB 2025 syllabus requires a qualitative understanding of Hardy-Weinberg — you should know what the principle states and what conditions are required, but you are not required to perform calculations using the Hardy-Weinberg equations (; ) at SL. HL students should be aware of the equations and what each term represents, but the primary exam demand is explaining the conditions and significance.
Speciation
Speciation is the evolutionary process by which new species arise. A species is a group of organisms that share common characteristics and can interbreed to produce fertile offspring.
Reproductive isolation is the key mechanism — once populations can no longer exchange genes, they diverge.
Allopatric Speciation
Allopatric speciation occurs when a population is divided by a geographical barrier (mountain range, ocean, river), creating two isolated sub-populations.
Process:
- Original population is split by a geographic barrier.
- Gene flow between populations ceases.
- Each sub-population is subject to different selection pressures, mutations, and genetic drift.
- Over time, allele frequencies diverge.
- Populations accumulate enough genetic differences that, if brought back together, they can no longer interbreed → reproductive isolation is complete → two species.
Example: Darwin’s finches on the Galápagos Islands — ancestral finches colonised different islands; geographical isolation led to divergence in beak morphology and feeding behaviour.
Sympatric Speciation
Sympatric speciation occurs within the same geographical area — no physical barrier separates the populations. It is less common in animals but well-documented in plants and insects.
Mechanisms include:
- Polyploidy — a sudden multiplication of chromosome sets (common in plants). An allopolyploid organism (with chromosome sets from two different species) cannot reproduce with either parent species → instant speciation.
- Ecological specialisation — subpopulations exploit different resources in the same area, reducing gene flow between them (e.g., insects specialising on different host plants).
Example: Many crop plants (wheat, cotton) arose through allopolyploidy.
| Feature | Allopatric Speciation | Sympatric Speciation |
|---|---|---|
| Geographic barrier | Required | Not required |
| Gene flow interrupted by | Physical separation | Reproductive/ecological isolation |
| Common in | Animals and plants | Primarily plants (polyploidy); some insects |
| Speed | Gradual (thousands of generations) | Can be rapid (polyploidy can be near-instantaneous) |
Exam Alert — Speciation Definitions: IB mark schemes award marks for precision. “Allopatric” = geographic isolation. “Sympatric” = same area, no geographic barrier. Simply writing “isolation” without the qualifier will lose marks. Always specify the type of isolation.
Section 4: MCQ Practice (IB Paper 1 Style)
Question 1. Which of the following events occurs during prophase I of meiosis but NOT during prophase of mitosis?
A. Chromosomes condense and become visible.
B. The nuclear envelope breaks down.
C. Homologous chromosomes pair and crossing over occurs.
D. Spindle fibres begin to form.
Reveal answer
C — Synapsis (pairing of homologous chromosomes) and crossing over at chiasmata are exclusive to prophase I of meiosis. Options A, B, and D occur in both prophase I of meiosis and prophase of mitosis.
Question 2. In a population of rabbits, the allele for brown coat () is dominant over the allele for white coat (). Two brown rabbits are crossed and produce 3 brown offspring and 1 white offspring. What are the genotypes of the parent rabbits?
A.
B.
C.
D.
Reveal answer
C — A 3:1 phenotype ratio (3 brown : 1 white) is the hallmark of a cross between two heterozygotes (). The offspring genotypes are 1 : 2 : 1 , giving the 3 brown : 1 white phenotype ratio. Option D () would give a 1:1 ratio; option B () would give all brown (no white offspring possible).
Question 3. A woman with type AB blood and a man with type O blood have children. Which of the following blood types is POSSIBLE for their children?
A. Type O
B. Type AB
C. Type A
D. Neither A nor B can be produced
Reveal answer
C — The mother with type AB has genotype . The father with type O has genotype . Possible gametes: mother produces and ; father produces only . Offspring genotypes: (type A) and (type B). Type A and Type B are both possible. Type O (requiring ) and Type AB (requiring ) cannot be produced. The answer is C (Type A is possible).
Question 4. Haemophilia is an X-linked recessive condition. A non-haemophiliac woman whose father had haemophilia marries a non-haemophiliac man. What is the probability that their first son will have haemophilia?
A. 0 (impossible)
B. 1/4
C. 1/2
D. 1 (certain)
Reveal answer
C — The woman’s father had haemophilia (), so she must have received from him. Since she is unaffected, she is a carrier (). Her husband is normal (). The cross produces , , , in equal proportions. Among sons, half will be (normal) and half will be (haemophiliac). The probability that their first son has haemophilia is 1/2.
Question 5. Which of the following is NOT a condition required for a population to be in Hardy-Weinberg equilibrium?
A. No migration into or out of the population
B. Random mating within the population
C. Large population size
D. High rate of mutation at the gene locus in question
Reveal answer
D — A high mutation rate would alter allele frequencies, violating Hardy-Weinberg equilibrium. Hardy-Weinberg requires the absence of mutation (or at least mutation rates so low they do not measurably alter allele frequencies). Options A, B, and C (no migration, random mating, large population size) are all required conditions for equilibrium.
Question 6. A new species of plant arose when a hybrid formed between two different species underwent chromosome doubling (polyploidy). This is an example of which type of speciation?
A. Allopatric speciation due to geographic isolation
B. Allopatric speciation due to reproductive isolation
C. Sympatric speciation
D. Adaptive radiation
Reveal answer
C — Polyploidy-driven speciation occurs without geographic separation — the new species arises within the same area as both parent species. This is the definition of sympatric speciation. Allopatric speciation (A, B) requires a geographic barrier. Adaptive radiation (D) refers to rapid diversification of one ancestral species into many niches, which is a pattern — not a mechanism of speciation.
Quick Recall — All Sections
Try to answer without scrolling up:
- What separates during anaphase I of meiosis versus anaphase II?
- What is the phenotype ratio expected from a monohybrid cross of two heterozygotes?
- Why are X-linked recessive conditions more common in males than females?
- Name the two types of speciation and their key distinguishing feature.
- State two conditions required for Hardy-Weinberg equilibrium.
Reveal answers
- Anaphase I: homologous chromosomes separate (sister chromatids remain joined). Anaphase II: sister chromatids separate (same as mitotic anaphase).
- 3:1 (3 dominant phenotype : 1 recessive phenotype).
- Males are hemizygous for X-linked genes — they have only one X chromosome and will express any allele (dominant or recessive) present on it. There is no second X allele to mask a recessive allele.
- Allopatric — populations separated by a geographic barrier; Sympatric — speciation within the same geographic area (no physical barrier), typically via polyploidy or ecological specialisation.
- Any two from: random mating, no mutation, large population size (no genetic drift), no migration (no gene flow), no natural selection.
Section 5: Exam Strategy
Top Mistakes on D2 Questions
-
Confusing what separates in meiosis I vs meiosis II. In meiosis I: homologous chromosomes separate. In meiosis II: sister chromatids separate. A diagram question showing double-stranded chromosomes moving apart = meiosis I. Single-stranded = meiosis II or mitosis.
-
Forgetting to show all gamete types in a dihybrid cross. For parents, there are four gamete types (, , , ). Students often write only two gametes. In a 4×4 Punnett square, you must list all four.
-
Writing “dominant” instead of “codominant” for ABO blood groups. is not dominant over — they are codominant. Saying ” is dominant and is recessive” is factually incorrect.
-
Confusing incomplete dominance with codominance. Use the test: can you detect both original phenotypes in the heterozygote? If yes (e.g., roan cattle have both red and white hairs) → codominance. If the heterozygote is a blend (e.g., pink snapdragons) → incomplete dominance.
-
Failing to use notation correctly for X-linked alleles. Always write X-linked alleles as superscripts on X: and , not simply or . The IB mark scheme requires the X to appear in the genotype.
-
Confusing allopatric and sympatric speciation. “Allopatric” = geo (geographic) separation. “Sympatric” = same place, reproductive/ecological isolation.
Genetic Cross Method for IB Exams:
Always show your working in four explicit steps:
- State parental genotypes
- State gametes for each parent
- Complete the Punnett square
- State genotype ratio then phenotype ratio
The IB mark scheme awards marks at each step. Even if your final ratio is wrong due to a counting error, you can earn marks for correctly stating gametes and setting up the Punnett square.
Fast-Recall Checklist — D2 Key Facts
- Meiosis I separates homologous chromosomes (); Meiosis II separates sister chromatids ()
- Crossing over: exchange of DNA between non-sister chromatids of homologous chromosomes at chiasmata in prophase I
- Independent assortment: random orientation of bivalents at metaphase I
- Monohybrid Aa × Aa → 3:1 phenotype ratio
- Dihybrid AaBb × AaBb → 9:3:3:1 phenotype ratio
- ABO: and codominant; recessive to both
- X-linked recessive: males more commonly affected (hemizygous)
- Testcross: unknown genotype × homozygous recessive
- Hardy-Weinberg: stable allele frequencies require no mutation, random mating, large population, no migration, no selection
- Allopatric speciation: geographic barrier; Sympatric speciation: same area (polyploidy/ecological)
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