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3.2Reproduction and Inheritance

Inheritance — Edexcel Linear - OL Revision Notes & Topical Questions

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The Genome, DNA, RNA and Protein Synthesis — EDEXCEL LINEAR - OL notes: Describe the structure of DNA and RNA and explain how a gene is transcribed and translated into a protein.The entirety of an organism's DNA is its genome.

  • chromosomes
  • double helix
  • complementary base pairing
  • uracil (U) replaces thymine
  • single-stranded
  • Transcription

Section 1 of 29Genome, genes and chromosomes

The entirety of an organism's DNA is its genome. A gene is a section of a DNA molecule that codes for a particular sequence of amino acids, and these sequences form proteins. Genes control our characteristics because proteins do important jobs in cells: structural proteins such as collagen in skin, enzymes and hormones.

In the nucleus the DNA double helix supercoils to form chromosomes, which are only visible during cell division.

1
Ordinary human body cells have 23 pairs of chromosomes (46 in total), the diploid number (2n).
2
One chromosome of each pair comes from each parent, and each pair is a homologous pair.
3
Genes sit at specific positions on chromosomes, which were mapped by the Human Genome Project.
4
The number of chromosomes differs between species: humans have 23 pairs, dogs 39 pairs and rice 12 pairs.

Section 2 of 29DNA structure

DNA (deoxyribonucleic acid) is the genetic material in the nucleus.

DNA structure
Double helix
It is a polymer of two strands coiled into a double helix.
Each strand has a sugar-phosphate backbone with bases attached: adenine (A), thymine (T), guanine (G) and cytosine (C).
Complementary base pairing
The strands are held together by complementary base pairing: A pairs with T and G pairs with C.
Because of this rule each strand can act as a template to build a new strand, which matters in cell division and in protein synthesis.
In exams, name the bases in full rather than relying only on the letters.

Section 3 of 29RNA structure

RNA (ribonucleic acid) is also a polynucleotide, a long chain of nucleotides.

RNA structure
Uracil (U) replaces thymine
It has adenine, guanine and cytosine, but uracil (U) replaces thymine.
Single-stranded
RNA is single-stranded, with alternating ribose sugars and phosphates and the bases projecting sideways.
Types: messenger RNA (mRNA), a copy of a gene that encodes a polypeptide; transfer RNA (tRNA),
  • which brings amino acids during protein synthesis; and ribosomal RNA (rRNA),
  • which forms part of ribosomes.
FeatureDNARNA
StrandsTwo (double helix)One
Base replacing TThymineUracil
SugarDeoxyriboseRibose

Section 4 of 29Transcription and translation

Turning a gene into a protein has two stages.

Transcription (in the nucleus):

1
Part of the DNA unwinds as hydrogen bonds between base pairs (A-T, G-C) break.
2
This exposes the template strand of the gene.
3
Free mRNA nucleotides in the nucleus pair with complementary bases on the template strand.
4
The nucleotides are joined to form a single strand of mRNA, a complementary copy of the gene.
5
The mRNA leaves the nucleus through a pore in the nuclear envelope.

Translation (in the cytoplasm, on ribosomes):

The mRNA attaches to a ribosome.
Anticodon
Free tRNA molecules each have an unpaired triplet called the anticodon at one end and a specific amino acid at the other.
Codon
The anticodon of a tRNA pairs with the complementary triplet (codon) on the mRNA, bringing its amino acid.
A second tRNA binds the next codon and a peptide bond forms between the neighbouring amino acids.
This continues until a stop codon is reached, which ends translation.
  • The finished chain is folded and modified into a protein such as an enzyme or antibody.

Alleles are alternative forms of the same gene; they differ slightly in base sequence, which is why they produce different versions of a characteristic.

Section 5 of 29Worked examples

  1. Name the base that pairs with adenine in DNA and the base that pairs with adenine in mRNA. [2]2 marks

  2. A DNA template strand reads TACGGT. Give the mRNA sequence made from it. [2]2 marks

  3. Describe the role of tRNA in translation. [3]3 marks

  4. State two differences between DNA and RNA. [2]2 marks

Section 6 of 29Alleles, genotype and phenotype

Alleles are different forms of the same gene, with small differences in base sequence.

Alleles, genotype and phenotype
Humans have two copies of each chromosome, so two alleles of each gene, one from each parent.
Alleles cause variation in inherited characteristics.
For example, the ability to taste PTC is controlled by one gene with two alleles: taster (T) and non-taster (t); PTC tastes like bitter compounds in vegetables such as cabbage and kale.

The phenotype is the observable characteristic.

Alleles, genotype and phenotype
Genotype
The genotype is the combination of alleles for a gene, written as two letters (TT, Tt, tt).
Dominant
A dominant allele (capital letter) shows in the phenotype if just one copy is present.
Recessive
A recessive allele (lower case) only shows if both alleles are recessive; if one recessive allele is present with a dominant allele it is masked.
Homozygous
An individual is homozygous if the two alleles are the same (TT homozygous dominant, tt homozygous recessive) and heterozygous if they differ (Tt).
GenotypeDescriptionPhenotype
TTHomozygous dominantTaster
TtHeterozygousTaster
ttHomozygous recessiveNon-taster

You do not have to memorise PTC. In exams you will be given an unfamiliar characteristic: use capital and lower-case letters for the alleles and always state the phenotype that matches the genotype.

Section 7 of 29Codominance

In codominance both alleles are expressed in the phenotype. Human ABO blood group is an example, with three alleles of one gene: IA, IB and IO. IA makes antigen A and IB makes antigen B; they are codominant with each other but both are dominant to IO, which makes no antigen.

GenotypeBlood group
IAIA or IAIOA
IBIB or IBIOB
IAIBAB
IOIOO

Worked idea

  • a group A parent and a group B parent can have a group O child only if they are IAIO and IBIO, since the child must inherit IO from each.
  • Their Punnett square gives a 25% chance of group O (and 25% each of A, B and AB).

Section 8 of 29Polygenic inheritance

Most characteristics result from several genes interacting, not one gene.

Polygenic
Characteristics controlled by more than one gene are polygenic.
They usually show a wide range of phenotypes rather than two options, for example human height, skin colour and weight.
Height shows a continuous range from very short to very tall.
Polygenic inheritance is hard to show with simple genetic diagrams,
  • and you are not expected to explain it with a diagram, only to know that many genes can control one characteristic.

Section 9 of 29Monohybrid inheritance and Punnett squares

Monohybrid inheritance is the inheritance of a characteristic controlled by a single gene. A Punnett square shows the possible allele combinations in offspring, from which you can work out ratios and percentage chances.

1
Write the parents' genotypes.
2
Choose a letter with an obviously different capital and lower case (Bb, Dd, Aa; avoid Cc and Ss).
3
Put each parent's alleles round the outside of the grid.
4
Fill the four boxes to show the possible offspring genotypes.

Example

  • in pea plants the tall allele T is dominant to the short allele t.
  • Crossing a pure-breeding tall plant (TT) with a short plant (tt) gives offspring that are all Tt and all tall (the F1 generation).
  • Letters for alleles should make it clear which is dominant.

Section 10 of 29Worked examples

  1. A taster (Tt) has children with a non-taster (tt). State the possible genotypes of the children. [2]2 marks

  2. A man with blood group AB and a woman with group O have a child. State the possible blood groups. [3]3 marks

  3. Explain what is meant by a heterozygous genotype. [1]1 mark

  4. Why can height not be shown in a simple Punnett square? [2]2 marks

Section 11 of 29F1 and F2 crosses in pea plants

In pea plants the tall allele T is dominant and short t is recessive.

Crossing pure-breeding TT with tt gives F1 plants that are all Tt and tall.
3:1 ratio
Crossing two F1 plants (Tt x Tt) gives the F2 generation: TT, Tt, Tt and tt, so three tall plants to one short plant, a 3:1 ratio.
The short plant shows the recessive phenotype so it must be homozygous recessive (tt).
Tt
TTTTt
tTttt

A cross between a heterozygous tall plant (Tt) and a short plant (tt) gives offspring Tt, Tt, tt, tt: a 1:1 ratio of tall to short. This is a useful test cross.

Section 12 of 29Probabilities from Punnett squares

A Punnett square shows possible allele combinations and their ratio, and the ratio can be converted to probabilities.

Probabilities from Punnett squares
In the Tt x Tt cross the ratio is 3 tall : 1 short, so the probability of a tall offspring is 3/4 or 75% and of a short offspring is 1/4 or 25%.
Each offspring is an independent event, so a 25% chance does not mean exactly one in four children will be affected.
If you are asked to use your own letters, choose a letter whose capital and lower case look obviously different.

Section 13 of 29Family pedigrees

A pedigree diagram traces a characteristic, usually a genetic disorder, through the generations of a family and helps to work out the probability that someone inherits it.

1
Males are shown as squares and females as circles.
2
A horizontal line between a male and a female shows that they have children, who are drawn beneath.
3
Affected individuals are shaded differently from unaffected ones.
4
When reading a pedigree look at whether both sexes are affected, whether every generation has affected people,
  • and whether unaffected parents have affected children.
    • (which suggests a recessive allele)

Section 14 of 29Sex chromosomes and inheritance of sex

Sex is determined by one whole chromosome pair, not by one or a few genes.

1
Females have XX and males have XY.
2
The mother can only pass on an X, while the father can pass on an X or a Y, so the father determines the sex of the child.
3
An X from each parent gives a girl; an X from the mother and a Y from the father gives a boy.
4
Sperm cells therefore determine sex.
5
A Punnett square with X and Y in place of alleles shows a 1:1 ratio of females to males, a 50% chance of each.
X (mother)X (mother)
X (father)XXXX
Y (father)XYXY

Section 15 of 29Mitosis

Mitosis is nuclear division giving rise to genetically identical cells. Most body cells are diploid, with two copies of each chromosome. Before dividing the chromosomes duplicate (forming X-shaped chromosomes), so after the cell divides each new cell still has two copies of every chromosome.

Mitosis
Each chromosome in the nucleus copies itself exactly.
The chromosomes line up along the centre of the cell and cell fibres pull them apart.
The cell divides into two, each daughter cell having a copy of each chromosome.

All body cells except gametes come from mitosis of the zygote. It is used for growth (new cells, for example when a zygote becomes an embryo), repair of damaged tissue, replacement of cells such as skin and red blood cells, and asexual reproduction, where the offspring are genetically identical to the parent.

Section 16 of 29Worked examples

  1. Two heterozygous tall pea plants are crossed. What is the probability of a short offspring? [3]3 marks

  2. A heterozygous plant is crossed with a short plant. Give the ratio of phenotypes. [2]2 marks

  3. Explain why the father determines the sex of a baby. [2]2 marks

  4. State three uses of mitosis in humans. [3]3 marks

Section 17 of 29Meiosis and haploid gametes

Meiosis is a type of nuclear division that gives cells that are genetically different.

Gametes
The chromosome number must be halved to make the new cells, the gametes, which are haploid (n): they have half the normal number of chromosomes.
If this did not happen, the chromosome number would double at every fertilisation.
Meiosis is used to make gametes (sperm, egg, pollen, ovum) and it increases genetic variation.
1
The chromosomes double themselves, as in mitosis, and line up in the centre.
2
First division: chromosome pairs separate, so each new cell gets one chromosome of each pair.
3
Second division: chromosomes line up again and are pulled apart.
4
Four haploid daughter cells (gametes) result.

Section 18 of 29Mitosis compared with meiosis

FeatureMitosisMeiosis
DivisionsOneTwo
Cells producedTwoFour
Chromosome numberStays the same (diploid)Halved (haploid)
Genetic make-upIdentical to parent cellGenetically different
Where / whyGrowth, repair, asexual reproductionMaking gametes in the reproductive organs

Exam tip

  • learn two or three differences and be specific;
    • know the reason for each type of division and the cells where it happens.

Section 19 of 29Diploid and haploid cells, random fertilisation

A diploid cell contains two complete sets of chromosomes (2n).

Nearly all human cells are diploid with 23 pairs (46 chromosomes).
Haploid
A haploid cell contains one set (n); in humans these are the gametes with 23 chromosomes and no pairs.
Meiosis makes gametes that each carry different alleles.
Fertilisation
During fertilisation any male gamete can fuse with any female gamete, so each zygote has a unique combination of alleles.
Examples of genetic variation in humans: blood group, eye colour, tongue rolling, and free or attached earlobes.

Section 20 of 29Causes of variation

Variation means differences between individuals of the same species.

1
It can be caused by genes (from random fertilisation), by the environment, or both.
2
Environmental factors include climate, diet, accidents, culture and lifestyle; for example scarring after an accident, weight gain from overeating, language and accent from where you grow up, and a plant in shade growing taller to reach light.
3
Discontinuous variation (blood group, tongue rolling, PTC tasting) is usually genetic and controlled by a single gene.
4
Continuous variation (height) is caused by genes, often polygenic, combined with the environment: tall parents give genes for height but poor diet limits growth.

Section 21 of 29Mutations

Mutations are rare, random changes in the sequence of bases in a gene or chromosome.

Mutations
They occur continuously and can be inherited.
Since the base sequence determines the amino acid sequence, a mutation in a gene may change the protein; most do not change it, or change it so slightly that the phenotype is unaffected.
There are three main types, remembering that each group of three bases (codon) codes for one amino acid:
Insertion
Insertion a new base is inserted. It changes the amino acid of the triplet where it occurs and shifts all later triplets (a knock-on effect).
Deletion
Deletion a base is removed. It also changes its own triplet and has a knock-on effect on later groups of three.
Substitution
Substitution one base is swapped for another. It changes only the amino acid of that triplet, with no knock-on effect.

Section 22 of 29Worked examples

  1. State two differences between mitosis and meiosis. [2]2 marks

  2. A human cell divides by meiosis. State the number of chromosomes in each daughter cell and explain why. [2]2 marks

  3. Explain why a substitution mutation often has less effect than an insertion. [3]3 marks

  4. Identical twins raised apart differ in height. Explain. [2]2 marks

Section 23 of 29Effects of mutations

Most mutations do not alter the protein, or alter it so slightly that its function is not changed, so most have no effect on the phenotype.

Effects of mutations
Some slightly change the shape of a protein, causing a minor effect.
Rarely, a mutation has a major effect.
If the protein shape changes, its function may change; for example, if the active site of an enzyme changes shape the substrate may no longer bind,
  • so no enzyme-substrate complex forms.

Occasionally a mutation creates a new allele and a new phenotype.

Effects of mutations
If this gives a survival or reproductive advantage, it can be passed on; for example a mutation that changes a bird's feather colour may make it more attractive to mates.
Mutations can also be harmful: sickle cell anaemia is caused by a mutation in the gene that codes for haemoglobin.

Worked reasoningsuppose a mutation replaces one base in the gene for an enzyme.

1
The triplet now codes for a different amino acid, so the chain folds slightly differently.
2
If the changed amino acid sits far from the active site, the enzyme still works and the phenotype is unchanged.
3
If it sits in the active site, the substrate no longer fits and the reaction stops, which can cause a disorder.
4
This is why the same type of mutation can be harmless in one place and serious in another.

Section 24 of 29Causes of mutations

Mutations occur spontaneously and continuously, but the rate increases with exposure to ionising radiation (gamma rays, X-rays and ultraviolet rays), which damages bonds and changes base sequences, and to chemical mutagens such as tar in tobacco smoke. A higher mutation rate can make cells cancerous, which is why these agents are linked with cancers.

Section 25 of 29Darwin's theory of evolution by natural selection

Charles Darwin proposed that evolution has occurred and that natural selection is the process that drives it. The stages are:

1
All populations show variation caused by differences in genes, which arise from mutations.
2
Some variants have characteristics that are advantageous in the environment and increase survival chances ("survival of the fittest").
3
Surviving individuals are more likely to reproduce, so they pass on their advantageous alleles to offspring.
4
Over many generations the advantageous alleles become more common in the population.

Examples are snail shell colour and peppered moth colour. Exam questions often give an unfamiliar example, so learn these four steps and apply them to whatever organism is described.

Key idea

  • natural selection acts on variation that already exists.
  • Individuals do not change their genes because they need to;
    • mutation creates new alleles at random and the environment then selects.
  • Natural selection can be contrasted with selective breeding, where humans choose which individuals reproduce.

Section 26 of 29Antibiotic resistance

Natural selection can produce bacteria that are resistant to antibiotics.

1
A random mutation gives a bacterium a new allele that codes for antibiotic resistance.
2
When the population is exposed to the antibiotic, bacteria without the allele die and those with it survive.
3
Survivors reproduce and pass the resistance allele to their offspring.
4
Over several generations the frequency of the resistance allele rises until a resistant strain exists.

A resistant population can only be treated with a different antibiotic, sometimes several, so resistance makes bacterial infections harder to control. In an exam answer include the natural selection steps: variation (mutation), increased survival, increased reproduction and increased allele frequency.

Section 27 of 29Worked examples

  1. Explain how a mutation in an enzyme gene could stop the enzyme working. [3]3 marks

  2. State two factors that increase the rate of mutation. [2]2 marks

  3. Explain how a population of bacteria becomes resistant to an antibiotic. [4]4 marks

  4. In a woodland, dark moths survive better on dark trees. Use natural selection to explain why dark moths become common. [4]4 marks

Section 28 of 29Key terms

TermMeaning
GenomeAll of an organism DNA.
GeneSection of DNA that codes for a protein.
Complementary base pairingA with T, and G with C, in DNA.
mRNAMessenger RNA; a copy of a gene carried from nucleus to ribosome.
TranscriptionMaking mRNA from a DNA gene in the nucleus.
TranslationBuilding a polypeptide at a ribosome using the mRNA code.
CodonTriplet of bases on mRNA coding for an amino acid.
AnticodonTriplet of unpaired bases on tRNA.
TermMeaning
AlleleAlternative form of a gene.
GenotypeThe combination of alleles an organism has.
PhenotypeThe observable characteristic.
DominantAllele expressed even when only one copy is present.
RecessiveAllele expressed only when two copies are present.
HomozygousHaving two identical alleles.
HeterozygousHaving two different alleles.
CodominanceBoth alleles are expressed in the phenotype.
PolygenicControlled by many genes.
TermMeaning
F1 generationOffspring of the first cross between pure-breeding parents.
F2 generationOffspring produced when F1 individuals breed with each other.
Punnett squareGrid showing possible allele combinations in offspring.
PedigreeFamily tree tracing a characteristic through generations.
Sex chromosomesX and Y; XX is female, XY is male.
MitosisNuclear division that gives genetically identical cells.
DiploidHaving two sets of chromosomes in the nucleus.
TermMeaning
MeiosisDivision giving four genetically different haploid gametes.
HaploidHaving one set of chromosomes (n).
DiploidHaving two sets of chromosomes (2n).
VariationDifferences between individuals of the same species.
MutationRandom change in DNA base sequence.
InsertionMutation adding a base.
DeletionMutation removing a base.
SubstitutionMutation swapping one base for another.
TermMeaning
Natural selectionProcess in which individuals with advantageous alleles survive and reproduce more.
EvolutionChange in the inherited characteristics of populations over many generations.
Antibiotic resistanceAbility of bacteria to survive an antibiotic, due to a resistance allele.
Ionising radiationX-rays, gamma rays and UV, which can cause mutations.
MutagenChemical or radiation that raises the rate of mutation.
Allele frequencyHow common an allele is in a population.

Section 29 of 29Exam technique

1
Writing thymine in mRNA — RNA contains uracil instead.
2
Saying translation happens in the nucleus — it happens on ribosomes in the cytoplasm.
3
Mixing up codon and anticodon — the codon is on mRNA; the anticodon is on tRNA.
4
Using only base letters — name adenine, thymine, guanine and cytosine in full.
1
Saying recessive alleles never appear — they show in homozygous recessive individuals.
2
Treating genotype and phenotype as the same — genotype is alleles, phenotype is the visible trait.
3
Using Cc or Ss as allele letters — the capital and lower case look similar.
4
Saying codominant alleles blend — both are fully expressed.
1
Writing the 3:1 ratio for a test cross — Tt x tt gives 1:1.
2
Saying a 25% chance means exactly one in four — probabilities describe each birth.
3
Thinking the mother decides the sex — only the father can pass on Y.
4
Believing mitosis halves chromosome number — it keeps it the same.
1
Saying meiosis produces two cells — it produces four.
2
Thinking variation is only genetic — environment also causes it.
3
Saying mutations are always harmful — most have no effect.
4
Forgetting that insertions and deletions shift the triplets and substitutions do not.
1
Thinking bacteria become resistant because they try to adapt — resistance arises by random mutation and selection.
2
Saying individuals evolve — populations evolve over generations.
3
Saying all mutations are harmful — many have no effect and some are beneficial.
4
Missing out "passes on the allele to offspring" in natural selection answers.

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