(b) Inheritance
- Syllabus
- 2024
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The genome is all the DNA of an organism; a gene is one section of DNA whose base sequence codes for a specific protein.
| Scale | Meaning |
|---|---|
| genome | the organism's complete genetic material: coding and non-coding DNA |
| gene | a particular DNA sequence that provides the instructions for one polypeptide or protein |
| protein | the product whose structure and function can contribute to a characteristic |
A genome is not one gene, and a gene does not directly code for a whole visible characteristic: it codes for a protein that can influence phenotype.
A cell nucleus contains chromosomes; each chromosome is a long DNA molecule carrying many genes at specific positions called loci.
| Level | Relationship |
|---|---|
| nucleus | contains the cell's chromosomes |
| chromosome | one long, coiled DNA molecule associated with proteins |
| gene | a section of that chromosome's DNA |
| allele | an alternative version of a gene at the same locus |
Genes are not separate objects floating beside chromosomes. They are sequences within chromosome DNA, and different chromosomes carry different sets of genes.
DNA consists of two nucleotide strands coiled into a double helix and held together by complementary base pairs.
| Base on one strand | Complementary base |
|---|---|
| adenine, A | thymine, T |
| thymine, T | adenine, A |
| cytosine, C | guanine, G |
| guanine, G | cytosine, C |
Base pairing is specific: A pairs with T and C pairs with G. The two strands are not identical; their sequences are complementary.
RNA is a single-stranded nucleic acid that contains uracil instead of thymine; mRNA carries a copied genetic message from DNA to a ribosome.
| Feature | DNA | RNA |
|---|---|---|
| strands | two, coiled as a double helix | one |
| base unique to molecule | thymine, T | uracil, U |
| sugar | deoxyribose | ribose |
| typical role here | stores genetic information | carries or helps decode a protein-making message |
When writing an RNA sequence, pair A in the DNA template with U, not T. RNA is not simply one detached strand of the original DNA molecule.
Protein synthesis has two linked stages: transcription copies a gene into mRNA, then translation decodes the mRNA to assemble amino acids.
| Stage | Place and mechanism |
|---|---|
| transcription | in the nucleus, DNA unwinds; complementary RNA bases form an mRNA copy of one strand |
| message transport | mRNA leaves the nucleus and binds to a ribosome |
| translation | the ribosome reads mRNA codons; tRNA anticodons pair with them |
| assembly | each tRNA delivers a specific amino acid; amino acids join in the coded order to form a polypeptide |
A codon is a three-base sequence on mRNA; an anticodon is the complementary triplet on tRNA. Transcription makes RNA, while translation makes a polypeptide.
An allele is an alternative version of the same gene, produced by a difference in the DNA base sequence at that gene's locus.
| Term | Example relationship |
|---|---|
| gene | a DNA section involved in a characteristic such as a pigment protein |
| allele | one version may code for a functional protein; another version may code for an altered protein |
| diploid genotype | an individual normally carries two alleles of the gene, one inherited from each parent |
Gene and allele are not synonyms: the gene names the inherited instruction, while alleles are alternative forms of that instruction.
A genotype is an allele combination; a phenotype is the observable outcome produced by genotype and, often, environment.
| Term | Precise meaning |
|---|---|
| dominant | expressed in the phenotype with one or two copies |
| recessive | expressed only when no dominant allele is present |
| homozygous | two identical alleles, such as AA or aa |
| heterozygous | two different alleles, such as Aa |
| genotype | the alleles an organism has |
| phenotype | the characteristic that is expressed |
Dominant does not mean common, stronger or better. A heterozygote carries a recessive allele even when the dominant phenotype masks it.
In codominance, both different alleles in a heterozygote are fully expressed in the phenotype.
| Genotype pattern | Phenotype pattern |
|---|---|
| two identical alleles | the corresponding single form is expressed |
| two codominant alleles | both products or characteristics are present together |
| example: C^R C^W cattle | both red and white hairs occur, producing roan |
Codominance is not blending into an intermediate allele and neither allele masks the other. Use distinct superscripts rather than dominant/recessive capitalisation when helpful.
A polygenic characteristic is controlled by several genes, each often contributing a small effect to the phenotype.
| Genetic control | Typical outcome |
|---|---|
| single gene with few alleles | a small number of distinct categories |
| many genes with additive effects | many possible allele combinations and continuous variation |
| polygenes plus environment | a broad range, as in human height |
Polygenic means many genes influence one characteristic, not one gene has many alleles and not many genes each control unrelated characteristics.
A monohybrid cross follows the inheritance of one gene. Separate parental alleles into gametes, then combine one allele from each parent.
| Step | Example: Aa × Aa |
|---|---|
| 1 parental genotypes | Aa and Aa |
| 2 possible gametes | A or a from each parent |
| 3 offspring genotypes | AA, Aa, Aa, aa |
| 4 genotype ratio | 1 AA : 2 Aa : 1 aa |
| 5 phenotype ratio, complete dominance | 3 dominant : 1 recessive |
Gametes carry one allele, not two. A Punnett square shows probabilities for each fertilisation event; it does not guarantee that four actual offspring match its four boxes.
A pedigree records phenotype and sex across generations, allowing inheritance patterns and possible genotypes to be inferred.
| Symbol or clue | Interpretation |
|---|---|
| square / circle | male / female |
| shaded | individual shows the stated phenotype |
| horizontal line | parents; vertical line |
| unaffected parents with an affected child | supports a recessive allele; both parents must be carriers |
| affected heterozygote with unaffected partner | can produce affected and unaffected children if the allele is dominant |
Infer genotypes from all relatives, not shading alone. An unaffected person can carry a recessive allele, whereas an affected recessive individual must be homozygous recessive.
First derive the probability of each genotype or phenotype from the parental cross; multiply probabilities for independent events such as phenotype and sex.
| Question type | Operation |
|---|---|
| one offspring has recessive phenotype from Aa × Aa | P(aa) = 1/4 |
| one offspring is male and recessive | 1/2 × 1/4 = 1/8 |
| all four offspring are male | (1/2)^4 = 1/16 |
| at least one of several offspring | use the complement when simpler: 1 − P(none) |
Each birth is a new independent event: earlier children do not change the next child's genetic probability. Add mutually exclusive alternatives; multiply independent requirements.
Human body cells normally contain 23 chromosome pairs. Females have XX and males have XY as the sex-chromosome pair.
| Cell | Autosomes | Sex chromosomes | Total |
|---|---|---|---|
| female body cell | 44 | XX | 46 |
| male body cell | 44 | XY | 46 |
| egg | 22 | X | 23 |
| sperm | 22 | X or Y | 23 |
X and Y are only one chromosome pair, not all of a person's chromosomes. An egg always contributes X; a sperm contributes X or Y.
Meiosis gives every egg an X chromosome, while approximately half of sperm carry X and half carry Y; random fertilisation therefore gives equal probabilities of XX and XY.
| Cross | Maternal X gamete | Maternal X gamete |
|---|---|---|
| paternal X gamete | XX, female | XX, female |
| paternal Y gamete | XY, male | XY, male |
The fertilising sperm determines whether the zygote is XX or XY. A 1:1 probability does not require every small family to contain equal numbers of girls and boys.
Mitosis divides one diploid parent cell into two diploid daughter cells with identical sets of chromosomes.
| Before and after | Chromosome information |
|---|---|
| before division | DNA replicates so every chromosome has a copied chromatid |
| during mitosis | copied chromatids separate to opposite ends |
| after cytokinesis | two cells form, each with the same chromosome number and genetic information as the parent |
DNA replication doubles the amount of DNA temporarily, not the chromosome number of the resulting daughter cells. Mitosis does not halve chromosome number.
Because mitosis preserves genetic information, it supplies genetically identical cells for growth, repair, cloning and asexual reproduction.
| Role | How mitosis contributes |
|---|---|
| growth | increases cell number |
| repair and replacement | replaces damaged, dead or worn cells |
| cloning | repeatedly copies a selected genotype |
| asexual reproduction | produces offspring from one parent without gamete fusion |
| embryo growth | increases cell number after a zygote forms |
Mitosis can contribute to both growth and reproduction, but it does not itself fuse gametes or create the genetic variation associated with meiosis and sexual reproduction.
Meiosis divides one diploid cell twice to produce four genetically different haploid cells, each with half the original chromosome number.
| Feature | Meiosis | Mitosis |
|---|---|---|
| divisions | two | one |
| products from one cell | four | two |
| chromosome number | halved; haploid | maintained; usually diploid |
| genetic similarity | products differ | products are genetically identical except mutation |
| role | gamete formation | growth, repair and asexual reproduction |
Meiosis does not make four identical diploid cells. Homologous chromosomes and alleles are assorted into different gametes, creating variation.
Each parent produces genetically varied gametes by meiosis, and fertilisation is random: any one sperm may fuse with any one egg.
| Source | Contribution to offspring variation |
|---|---|
| meiosis | produces gametes with different allele combinations |
| two parents | contribute alleles from different genomes |
| random fertilisation | combines one of many possible paternal gametes with one of many possible maternal gametes |
Fertilisation restores the diploid number; it does not deliberately choose advantageous gametes. The randomness of which gametes meet creates new genotype combinations.
Human diploid cells contain 46 chromosomes in 23 pairs; haploid gametes contain 23 unpaired chromosomes.
| Event or cell | Chromosome number |
|---|---|
| body cell before gamete formation | 46, diploid |
| egg or sperm after meiosis | 23, haploid |
| zygote after fertilisation | 46, diploid |
| daughter body cells after mitosis | 46 each, diploid |
Diploid means two sets and haploid means one set. A human gamete has 23 chromosomes, not 23 pairs; fertilisation combines two haploid sets.
Variation within a species may be caused by inherited alleles, environmental conditions, or an interaction between both.
| Cause | Example and mechanism |
|---|---|
| genetic | blood group depends on inherited alleles |
| environmental | a scar results from an individual's experience |
| both | height depends on many genes plus nutrition and health |
Environmental variation is not inherited through DNA, although parents may shape offspring environments. A genetically influenced feature can still be modified by environment.
A mutation is a rare, random change in genetic material. A mutation in DNA can create a new allele and may be inherited if it enters a gamete lineage.
| Location | Possible consequence |
|---|---|
| body cell | passed to daughter cells by mitosis but normally not to offspring |
| cell producing gametes | may be present in a gamete and inherited after fertilisation |
| gene sequence | may alter a protein, or may have no phenotypic effect |
Organisms do not mutate because they need a trait. Mutations occur randomly with respect to usefulness; selection acts afterward on inherited variation.
A changed DNA base sequence can alter mRNA codons, the amino-acid sequence, protein folding and function, and therefore phenotype.
| Causal link | What can change |
|---|---|
| 1 DNA | one or more bases are substituted, inserted or deleted |
| 2 transcription | mRNA base sequence or codons may differ |
| 3 translation | different tRNA molecules may deliver different amino acids |
| 4 protein | amino-acid order can change folding, active-site shape or stability |
| 5 phenotype | altered protein activity can change a characteristic |
A DNA change does not alter phenotype directly; its effect is mediated through gene expression and protein function.
Most mutations have no phenotypic effect, some make a small difference, and only rarely does one have a large effect.
| Outcome | Why it can occur |
|---|---|
| no effect | mutation is in non-coding DNA, or a changed codon specifies the same amino acid |
| little effect | amino-acid substitution does not greatly change protein shape or activity |
| significant effect | a critical amino acid, reading frame, active site or stop signal is altered |
Mutation does not always mean disease and it is not automatically beneficial. Its effect depends on where the change occurs and on the environment.
Mutagens increase the incidence of DNA mutations. Examples include ionising radiation and particular chemicals.
| Mutagen group | Examples in scope |
|---|---|
| ionising or damaging radiation | gamma rays, X-rays and ultraviolet radiation |
| chemical mutagens | chemicals in tobacco smoke |
| consequence | DNA damage raises mutation probability; affected cells may malfunction or divide uncontrollably |
A mutagen raises risk; it does not guarantee a particular mutation or phenotype. Mutations remain individual DNA changes, not purposeful responses to exposure.
Natural selection changes allele frequencies when inherited variation causes some individuals to survive and reproduce more successfully than others.
| Stage | Darwinian explanation |
|---|---|
| 1 | mutation and sexual reproduction create inherited variation |
| 2 | environmental pressures create competition or differential survival |
| 3 | individuals with advantageous phenotypes are more likely to survive |
| 4 | survivors reproduce and pass advantageous alleles to offspring |
| 5 | over many generations those alleles and phenotypes become more common |
Individuals do not evolve during life and organisms do not acquire a useful allele because they need it. Populations evolve across generations as inherited variants differ in reproductive success.
A resistance mutation may already exist in a bacterial population. Antibiotic exposure kills susceptible bacteria but resistant bacteria survive and reproduce.
| Selection step | Population change |
|---|---|
| variation | rare mutations create resistant bacteria before or during population growth |
| antibiotic pressure | susceptible bacteria die; resistant bacteria survive |
| reproduction | survivors divide rapidly and pass resistance DNA to descendants |
| repeated exposure | the proportion of resistant bacteria rises, making infection harder to control |
The antibiotic does not teach an individual bacterium to become resistant. Overuse increases selection pressure and removes competitors, favouring resistant lineages.