(b) Inheritance

Syllabus
2024
Topic
Level

Learning objectives

3.14Genome and genesUnderstand that the genome is the entire DNA of an organism and that a gene is a section of a molecule of DNA that codes for a specific protein.3.15Chromosomes and genesUnderstand that the nucleus of a cell contains chromosomes on which genes are located.316B DNA structureDescribe a DNA molecule as two strands coiled to form a double helix, the strands being linked by a series of paired bases: adenine (A) with thymine (T), and cytosine (C) with guanine (G).317B RNA structureUnderstand that an RNA molecule is single stranded and contains uracil (U) instead of thymine (T).318B Protein synthesisDescribe the stages of protein synthesis including transcription and translation, including the role of mRNA, ribosomes, tRNA, codons and anticodons.3.19AllelesUnderstand how genes exist in alternative forms called alleles which give rise to differences in inherited characteristics.3.20Genetic terminologyUnderstand the meaning of the terms: dominant, recessive, homozygous, heterozygous, phenotype, and genotype.321B CodominanceUnderstand the meaning of the term codominance.3.22Polygenic inheritanceUnderstand that most phenotypic features are the result of polygenic inheritance rather than single genes.3.23Monohybrid inheritanceDescribe patterns of monohybrid inheritance using a genetic diagram.3.24Interpreting family pedigreesUnderstand how to interpret family pedigrees.3.25Monohybrid cross probabilitiesPredict probabilities of outcomes from monohybrid crosses.3.26Sex chromosomesUnderstand how the sex of a person is controlled by one pair of chromosomes, XX in a female and XY in a male.3.27Sex determination at fertilisationDescribe the determination of the sex of offspring at fertilisation, using a genetic diagram.3.28Mitosis and identical diploid cellsUnderstand how division of a diploid cell by mitosis produces two cells that contain identical sets of chromosomes.3.29Roles of mitosisUnderstand that mitosis occurs during growth, repair, cloning and asexual reproduction.3.30Meiosis and haploid gametesUnderstand how division of a cell by meiosis produces four cells, each with half the number of chromosomes, and that this results in the formation of genetically different haploid gametes.3.31Random fertilisation and variationUnderstand how random fertilisation produces genetic variation of offspring.3.32Human diploid and haploid chromosome numbersKnow that in human cells the diploid number of chromosomes is 46 and the haploid number is 23.3.33Variation within a speciesUnderstand that variation within a species can be genetic, environmental, or a combination of both.3.34MutationUnderstand that mutation is a rare, random change in genetic material that can be inherited.335B DNA mutations and phenotypeUnderstand how a change in DNA can affect the phenotype by altering the sequence of amino acids in a protein.336B Effects of genetic mutationsUnderstand how most genetic mutations have no effect on the phenotype, some have a small effect and rarely do they have a significant effect.337B MutagensUnderstand that the incidence of mutations can be increased by exposure to ionising radiation (for example, gamma rays, x-rays and ultraviolet rays) and some chemical mutagens (for example, chemicals in tobacco).3.38Darwin’s theory of evolution by natural selectionExplain Darwin’s theory of evolution by natural selection.3.39Antibiotic resistanceUnderstand how resistance to antibiotics can increase in bacterial populations, and appreciate how such an increase can lead to infections being difficult to control.

Distinguish a genome from a gene

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.

Locate genes on chromosomes

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.

Build the DNA double helix

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.

Compare RNA with DNA

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.

Translate a gene into a protein

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.

Relate genes and alleles

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.

Use core genetic terminology

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.

Recognise codominance

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.

Explain polygenic inheritance

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.

Construct a monohybrid genetic diagram

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.

Interpret a family pedigree

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.

Calculate monohybrid probabilities

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.

Identify human sex chromosomes

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.

Determine sex at fertilisation

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.

Use mitosis to copy diploid cells

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.

Connect mitosis to its biological roles

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.

Use meiosis to make varied haploid gametes

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.

Explain variation from random fertilisation

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.

Track human chromosome numbers

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.

Separate genetic and environmental variation

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.

Define mutation precisely

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.

Trace a DNA mutation to phenotype

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.

Judge the possible effects of mutations

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.

Identify mutagens

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.

Explain evolution by natural selection

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.

Explain antibiotic resistance by selection

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.