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A2 Biology Revision Checklist
Name……………………………………………………..
1
Index
Unit 4
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Populations and ecosystems
Investigating populations
Variation in population size
Competition
Predation
Human populations
Energy and ATP
Overview of photosynthesis
The light-dependent reaction
The light-independent reaction
Factors affecting photosynthesis
Glycolysis
Link reaction and Krebs cycle
Electron transport chain
Anaerobic respiration
Food chains and food webs
Energy transfer between trophic levels
Ecological pyramids
Agricultural ecosystems
Chemical and biological control of agricultural pests
Intensive rearing of domestic livestock
The carbon cycle and global warming
The nitrogen cycle
Succession and Conservation of habitats
Monohybrid inheritance
Sex inheritance and sex linkage
Allelic frequencies and population genetics
Selection and speciation
Unit 5
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Sensory reception
Nervous control
Control of heart rate
Role of receptors
Coordination
Neurones
The nerve impulse
Passage of an action potential and its speed
Synaptic transmission
Muscle contraction
Principles of homeostasis
Regulation of body temperature
Hormones and the regulation of blood glucose
Diabetes and its control
Control of the oestrous cycle
Genetic control of protein structure and function
Polypeptide synthesis – transcription and splicing / translation
Gene mutation
Totipotency and cell specialisation
Regulation of transcription and translation
Producing DNA fragments
In vivo / in vitro cloning
Use of recombinant DNA technology
Gene therapy
Locating and sequencing genes
Screening for clinically important genes
Genetic fingerprinting
2
3
Unit 4 – Populations and environment
*(page numbers from Biology A2 book by Glenn Toole, Susan Toole)
Populations
Populations and ecosystems (pages 4-5)
Done 
A population is all the organisms of one species in a habitat. Populations of different species form a
community.
Within a habitat a species occupies a niche governed by adaptation to both biotic and abiotic
conditions.
Can you answer the questions?
What is meant by the terms ‘environment’, ‘biotic’, ‘abiotic’ and ‘biosphere’?
What is an ecosystem?
What is meant by the terms ‘population’, ‘community’ and ‘habitat’?
What is a niche?
Notes
Investigating populations (pages 6-9)
Done 
candidates should
• carry out experimental and investigative activities, including appropriate risk management
• consider ethical issues arising when carrying out fieldwork, particularly those relating to the
organisms involved and their environment
• analyse and interpret data relating to the distribution of organisms, recognizing correlations and
causal relationships
• appreciate the tentative nature of conclusions that may be drawn from such data.
Random sampling with quadrats and counting along transects to obtain quantitative data.
The use of percentage cover and frequency as measures of abundance.
The use of mark–release–recapture for more mobile species.
Can you answer the questions?
What factors should be considered when using a quadrat?
How is a transect used to obtain quantitative data about changes in communities along a line?
How is the abundance of different species measured?
How can the mark-release-recapture method be used to measure the abundance of mobile
species?
Notes
4
Variation in population size (pages 10-12)
Done 
Population size may vary as a result of
• the effect of abiotic factors
• interactions between organisms: interspecific and intraspecific competition and predation.
Human population size and structure, population growth rate, age-population pyramids, survival
rates and life expectancy.
• interpret growth curves, survival curves and age-population pyramids
• calculate population growth rates from data on birth rate and death rate.
• relate changes in the size and structure of human populations to different stages in
demographic transition.
Competition (pages 13-16)
-
The effects of interspecific competition on population size
-
Competing to the death
-
Effects of abiotic and biotic factors on population size
Predation (pages 17-19)
-
Effect of predator–prey relationship on population size
-
Example - The Canadian lynx and the snowshoe hare
Human populations (pages 20-23)
-
Factors affecting the growth and size of human populations
-
Factors affecting birth rates / Factors affecting death rates / Population structure / Survival rates
and life expectancy
-
The demographic transition of the human population
Done 
Done 
Done 
Can you answer the questions?
What factors determine the size of a population?
Which abiotic factors affect the size of a population?
How do each of these factors influence population size?
What is intraspecific competition?
What factors do different species compete for?
What is interspecific competition?
How does interspecific competition influence population size?
What is predation?
How does the predator–prey relationship affect the population size of the predator and prey?
How does the human population growth curve differ from that of most other organisms?
What factors affect the growth and size of human populations?
Notes
5
Energy and ATP (pages 28-31)
Done 
How ATP stores energy
Synthesis of ATP from ADP and phosphate
Roles of ATP as the immediate source of energy for biological processes.
Overview of photosynthesis (pages 32-34)
Done 
Site of photosynthesis - Structure of the leaf
Structure and role of chloroplasts in photosynthesis
The light-independent and light-dependent reactions in a typical C3 plant.
The light-dependent reaction (pages 35-37)
Done 
The light-dependent reaction in such detail as to show that
• light energy excites electrons in chlorophyll
• energy from these excited electrons generates ATP and reduced NADP
• the production of ATP involves electron transfer associated with the electron transfer chain in
chloroplast membranes
• photolysis of water produces protons, electrons and oxygen.
The light-independent reaction (pages 38-40)
Done 
The light-independent reaction in such detail as to show that
• carbon dioxide is accepted by ribulose bisphosphate (RuBP) to form two molecules of glycerate
3-phosphate (GP)
• ATP and reduced NADP are required for the reduction of GP to triose phosphate
• RuBP is regenerated in the Calvin cycle
• Triose phosphate is converted to useful organic substances.
Factors affecting photosynthesis (pages 41-44)
Done 
Effect of light intensity on the rate of photosynthesis
Effect of carbon dioxide concentration on the rate of photosynthesis
Effect of temperature on the rate of photosynthesis
- Measuring photosynthesis
Can you answer the questions?
What is energy and why do organisms need it?
How does ATP store energy?
How is ATP synthesised?
What is the role of ATP in biological processes?
How is the plant leaf adapted to carry out photosynthesis?
What are the main stages of photosynthesis?
How is ATP made during the light-dependent reaction?
What is the role of photolysis in the light-dependent reaction?
How are chloroplasts adapted to carry out the light-dependent reaction?
How is the carbon dioxide absorbed by plants incorporated into organic molecules?
What are the roles of ATP and reduced NADP in the light-independent reaction?
What is the Calvin cycle?
What is meant by the concept of limiting factors?
How can photosynthesis be measured?
Notes
6
Glycolysis (pages 50-52)
Done 
Energy yields from glycolysis:
glycolysis takes place in the cytoplasm and involves the oxidation of glucose to pyruvate with a
net gain of ATP and reduced NAD
Link reaction and Krebs cycle (pages 53-55)
Done 
pyruvate combines with coenzyme A in the link reaction to produce acetylcoenzyme A
The significance of the Krebs cycle
- Coenzymes in respiration
• in a series of oxidation-reduction reactions the Krebs cycle generates reduced coenzymes and
ATP by substrate-level phosphorylation, and carbon dioxide is lost
• acetylcoenzyme A is effectively a two carbon molecule that combines with a four carbon
molecule to produce a six carbon molecule which enters the Krebs cycle
Electron transport chain (pages 55-57)
Done 
The electron transport chain and the synthesis of ATP
- Sequencing the chain
synthesis of ATP by oxidative phosphorylation is associated with the transfer of electrons down
the electron transport chain and passage of protons across mitochondrial membranes.
Anaerobic respiration (pages 58-60)
Done 
Glycolysis followed by the production of ethanol or lactate and the regeneration of NAD in
anaerobic respiration.
Production of ethanol in plants and some microorganisms
Energy yields from anaerobic and aerobic respiration
- Investigating where certain respiratory pathways take place in cells
Can you answer the questions?
Where does glycolysis fit into the overall process of respiration?
What are the main stages of glycolysis?
What are the products of glycolysis?
What is the link reaction?
What happens during the Krebs cycle?
What are hydrogen carrier molecules and what is their role in the Krebs cycle?
Where does the electron transport chain take place?
How is ATP synthesised in the electron transport chain?
What is the role of oxygen in aerobic respiration?
How is energy released by respiration in the absence of oxygen?
How is ethanol produced by anaerobic respiration?
How is lactate produced by anaerobic respiration?
Notes
7
Food chains and food webs (pages 64-66)
Done 
Producers / Consumers / Decomposers / Food chains / Food webs
Energy transfer between trophic levels (pages 67-69)
Done 
Energy losses in food chains
Calculating the efficiency of energy transfers
Ecological pyramids (pages 70-72)
Done 
Pyramids of number / Pyramids of biomass / Pyramids of energy
Agricultural ecosystems (pages 73-75)
Done 
Comparison of natural and agricultural ecosystems
- Energy input
- Productivity
Chemical and biological control of agricultural pests (pages 76-79)
Done 
Biological control / Integrated pest-control systems / How controlling pests affects productivity
• the use of natural and artificial fertilisers
• the use of chemical pesticides, biological agents and integrated systems in controlling pests on
agricultural crops
Intensive rearing of domestic livestock (pages 80-83)
Done 
Features of intensive rearing of livestock
- Economic and environmental issues concerned with intensive food production
Can you answer the questions?
How does energy enter an ecosystem?
How is energy transferred between the organisms in the ecosystem?
What is meant by the terms: ‘trophic level’, ‘food chain’, ‘food web’, ‘producer’, ‘consumer’ and
‘decomposer’?
How is energy lost from the ecosystem?
What percentage of energy is transferred from one trophic level to the next?
How is energy lost along a food chain?
Why do most food chains have no more than five trophic levels?
How is the percentage efficiency of energy transfers calculated?
What are the different types of ecological pyramid?
What are the relative merits and disadvantages of each?
What is an agricultural ecosystem?
How do natural and agricultural ecosystems differ?
What is meant by productivity?
How is net productivity calculated?
What are pests and pesticides?
What are the features of an efficient pesticide?
How are biological agents used to control pests?
What is integrated pest management?
How does rearing animals intensively increase the efficiency of energy conversion?
Notes
8
Chemical elements are recycled in ecosystems.
Microorganisms play a key role in recycling these elements.
Nutrient cycles
Done 
The role of microorganisms in the carbon and nitrogen cycles in sufficient detail to illustrate the
processes of saprobiotic nutrition, ammonification, nitrification, nitrogen fixation and
denitrification
The carbon cycle and global warming (pages 88-94)
Done 
The importance of respiration, photosynthesis and human activity in giving rise to short-term
fluctuation and long-term change in global carbon dioxide concentration.
The roles of carbon dioxide and methane in enhancing the greenhouse effect and bringing about
global warming.
analyse, interpret and evaluate data relating to evidence of global warming and its effects on
• the yield of crop plants
• the life-cycles and numbers of insect pests
• the distribution and numbers of wild animals and plants.
The nitrogen cycle (pages 95-101)
Done 
Stages of cycle: Ammonification / Nitrification / Nitrogen fixation / Dentrification
The environmental issues arising from the use of fertilisers. Leaching and eutrophication.
Can you answer the questions?
Where does carbon enter the living component of an ecosystem?
Where does carbon enter the non-living component of an ecosystem?
What role is played by saprobiotic organisms in the carbon cycle?
What is the greenhouse effect?
Which are the major greenhouse gases and where do they come from?
Why is the production of greenhouse gases increasing?
How do greenhouse gases contribute to global warming?
What are the consequences of global warming?
How is nitrogen recycled in ecosystems?
What is the role of saprobiotic microorganisms in this recycling?
What do you understand by the terms ‘ammonification’, ‘nitrification’, ‘nitrogen fixation’ and
‘denitrification’?
Where does nitrogen enter the living component of an ecosystem?
Where does nitrogen enter the non-living component of an ecosystem?
Why are fertilisers needed in agricultural ecosystems?
How do natural and artificial fertilisers differ?
How do fertilisers increase productivity?
What are the main environmental effects of using nitrogen fertilisers?
What is meant by ‘leaching’ and ‘eutrophication’?
Notes
9
Succession and Conservation of habitats (pages 104-110)
Done 
Succession from pioneer species to climax community.
At each stage in succession, certain species may be recognised which change the environment
so that it becomes more suitable for other species.
The changes in the abiotic environment result in a less hostile environment and changing
diversity.
Conservation of habitats frequently involves management of succession.
Candidates should be able to
• use their knowledge and understanding to present scientific arguments and ideas relating to
the conservation of species and habitats
• evaluate evidence and data concerning issues relating to the conservation of species and
habitats and consider conflicting evidence
• explain how conservation relies on science to inform decision-making.
Can you answer the questions?
What changes occur in the variety of species that occupy an area over time?
What are meant by the terms succession and climax community?
How can managing succession help to conserve habitats?
What is conservation?
How can managing succession help to conserve habitats?
Inheritance and selection
Studying inheritance (pages 112-114)
Done 
Genotype and phenotype Genes and alleles
Monohybrid inheritance (pages 115-117)
Crosses Inheritance of pod colour in peas
- Determining genotypes
Sex inheritance and sex linkage (pages 118-120)
Co-dominance / Multiple alleles and a dominance hierarchy
Allelic frequencies and population genetics (pages 125-127)
Species exist as one or more populations.
The concepts of gene pool and allele frequency.
The Hardy-Weinberg principle. The conditions under which the principle applies.
Candidates should be able to calculate allele, genotype and phenotype frequencies from
appropriate data and from the Hardy-Weinberg equation, p2 + 2pq + q2 = 1 where p is the
frequency of the dominant allele and q is the frequency of the recessive allele.
Candidates should understand that the Hardy-Weinberg principle provides a mathematical
model which predicts that allele frequencies will not change from generation to generation.
Selection (pages 128-131)
Done 
Differential reproductive success and its effect on the allele frequency within a gene pool.
Directional and stabilising selection.
10
Speciation (pages 132-133)
Done 
Geographic separation of populations of a species can result in the accumulation of difference in
the gene pools. The importance of geographic isolation in the formation of new species.
Can you answer the questions?
What are meant by the terms ‘genotype’ and ‘phenotype’?
What are dominant, recessive and co-dominant alleles?
What are multiple alleles?
How are genetic crosses represented?
How is a single gene inherited?
How is sex determined genetically?
What is sex linkage?
How are sex linked diseases such as haemophilia inherited?
How does co-dominance affect the inheritance of characteristics?
How do multiple alleles affect inheritance?
How are blood groups in humans inherited?
What are meant by the terms ‘gene pool’ and ‘allelic frequency’?
What is the Hardy–Weinberg principle?
How does reproductive success affect allele frequency within a gene pool?
What is selection?
What environmental factors exert selection pressure?
What are stabilising and directional selection?
What is speciation?
What is geographical isolation?
How can geographical isolation lead to the formation of new species?
Notes
11
Unit 5 – Control in cells and in organisms
Coordination
Sensory reception (pages 142-143)
Done 
Stimulus and response / Taxes / Kineses / Tropisms
Nervous control (pages 144-146)
Done 
Nervous organisation
The spinal cord - Importance of reflex arcs
Control of heart rate (pages 147-149)
Done 
The autonomic nervous system e.g. Control of heart rate
- Control by chemoreceptors
- Control by pressure receptors
Role of receptors (pages 150-152)
Done 
Structure and function of a Pacinian corpuscle
Receptors working together in the eye
- Rod cells
- Cone cells
Can you answer the questions?
What are a stimulus and a response?
What is the advantage to organisms of being able to respond to stimuli?
What are taxes, kineses and tropisms?
How does each type of response increase an organism’s chances of survival?
How does a simple reflex arc work?
What roles do sensory, intermediate and motor neurones play in a reflex arc?
How do reflex arcs prevent damage to the body?
What is the autonomic nervous system?
How does the autonomic nervous system control heart rate?
What role do chemical and pressure receptors play in the process?
What are the main features of sensory reception?
What is a Pacinian corpuscle and how does it work?
How do receptors work together in the eye?
Notes
12
Coordination (pages 153-160)
Done 
Chemical mediators / Plant growth factors / Control of tropisms by IAA
- Discovering the role of IAA in tropisms
Neurones (pages 150-152)
Done 
The structure of neurones / The structure of a myelinated motor neurone.
The nerve impulse (pages 161-167)
Done 
The establishment of a resting potential in terms of differential membrane permeability,
electrochemical gradients and the movement of sodium and potassium ions.
Passage of an action potential and its speed (pages 168-173)
Done 
Changes in membrane permeability lead to depolarisation and the generation of an action
potential. The all-or-nothing principle.
The nature and importance of the refractory period in producing discrete impulses
Factors affecting the speed of conductance: myelination and saltatory conduction; axon
diameter; temperature.
Synaptic transmission (pages 174-179)
Done 
The detailed structure of a synapse and of a neuromuscular junction.
Explain: unidirectionality / temporal and spatial summation / inhibition.
The sequence of events involved in transmission across a cholinergic synapse and across a
neuromuscular junction.
Predict and explain the effects of specific drugs on a synapse. (Recall of the names and mode of
action of individual drugs will not be required)
Can you answer the questions?
What is a neurone?
What is the structure of a myelinated motor neurone?
What are the different types of neurone?
What is resting potential?
How is resting potential established in a neurone?
What is an action potential?
How does an action potential pass along an unmyelinated axon?
How does an action potential pass along a myelinated axon?
What factors affect the speed of conductance of an action potential?
What is the refractory period?
What is its role in separating one impulse from the next?
What is meant by the all-or-nothing principle?
What is a synapse?
What functions do synapses perform?
How is information transmitted across a synapse?
Notes
13
Muscle contraction (pages 184-191)
Done 
Gross and microscopic structure of skeletal muscle. The ultrastructure of a myofibril.
The roles of actin, myosin, calcium ions and ATP in myofibril contraction.
The roles of calcium ions and tropomyosin in the cycle of actinomyosin bridge formation. (The
sliding filament theory of muscle contraction)
The role of ATP and phosphocreatine in providing the energy supply during muscle contraction.
The structure, location and general properties of slow and fast skeletal muscle fibres.
Can you answer the questions?
What are the gross and microscopic structure of a skeletal muscle?
What is the ultrastructure of a myofibril?
How are actin and myosin arranged within a myofibril?
What evidence supports the sliding filament mechanism of muscle contraction?
How does the sliding filament mechanism cause a muscle to contract and relax?
Where does the energy for muscle contraction come from?
Notes
Principles of homeostasis (pages 194-195)
Done 
The importance of homeostasis
Control mechanisms / Coordination of control mechanisms
Regulation of body temperature (pages 196-201)
Done 
Mechanisms of heat loss and gain
Regulation of body temperature in ectotherms
Regulation of body temperature in endotherms
- Conserving and gaining heat in response to a cold environment
- Losing heat in response to a warm environment
- Comparing heat gain and loss in ectotherms and endotherms
- Role of the hypothalamus in temperature regulation
Hormones and the regulation of blood glucose (pages 202-205)
Done 
The role of the pancreas in regulating blood glucose
Regulation of blood glucose
- Blood glucose and variations in its level
- Insulin and the β cells of the pancreas
- Glucagon and the α cells of the pancreas
- Role of adrenaline in regulating the blood glucose level
- Hormone interaction in regulating blood glucose
Diabetes and its control (pages 206-208)
Done 
Types of sugar diabetes
- Control of diabetes
- Effects of diabetes on substance levels in the blood
14
Can you answer the questions?
What is homeostasis?
What is the importance of homeostasis?
How do control mechanisms work?
How are control mechanisms coordinated?
What are the main ways in which heat is gained and lost in organisms?
How is body temperature regulated in ectotherms?
How is body temperature regulated in endotherms?
How is body temperature regulated in mammals?
How do hormones work?
What is the role of thepancreas in regulating blood glucose?
What factors infl uence blood glucose concentration?
What are the roles of insulin, glucagon and adrenaline in regulating blood glucose?
What are the two main types of diabetes and how do they differ?
How can each type of diabetes be controlled?
Notes
The principles of feedback mechanisms (pages 212-214)
Done 
Negative feedback
Positive feedback
- Control of blood water potential
Control of the oestrous cycle (pages 215-217)
Done 
Hormonal control of the menstrual cycle
- The oestrous cycle in pigs
Can you answer the questions?
What is negative feedback?
How does it help to control homeostatic processes?
How does it differ from positive feedback?
Which hormones are involved in the control of oestrous cycles?
How do these hormones interact in the control of the human menstrual cycle?
How are different forms of feedback loop involved in this control?
Notes
15
Genetic control of protein structure and function (pages 220-223)
Done 
The genetic code as base triplets in mRNA which code for specific amino acids.
The genetic code is universal, non-overlapping and degenerate.
The structure of molecules of messenger RNA (mRNA) and transfer RNA (tRNA).
Compare the structure and composition of DNA, mRNA and tRNA.
Polypeptide synthesis – transcription and splicing / translation (pages 224-229)
Done 
Transcription as the production of mRNA from DNA. The role of RNA polymerase.
The splicing of pre-mRNA to form mRNA in eukaryotic cells.
Translation as the production of polypeptides from the sequence of codons carried by mRNA.
The role of ribosomes and tRNA.
Gene mutation (pages 230-233)
Done 
Gene mutations might arise during DNA replication. The deletion and substitution of bases.
Gene mutations occur spontaneously. The mutation rate is increased by mutagenic agents.
Some mutations result in a different amino acid sequence in the encoded polypeptide. Due to
the degenerate nature of the genetic code, not all mutations result in a change to the amino acid
sequence of the encoded polypeptide.
The rate of cell division is controlled by proto-oncogenes that stimulate cell division and tumour
suppressor genes that slow cell division. A mutated proto-oncogene, called an oncogene,
stimulates cells to divide too quickly. A mutated tumour suppressor gene is inactivated, allowing
the rate of cell division to increase.
Can you answer the questions?
What is the genetic code and what are its main features?
What is the structure of ribonucleic acid (RNA)?
What are the structure and the role of messenger RNA (mRNA)?
What are the structure and the role of transfer RNA (tRNA)?
How is pre-messenger RNA produced from DNA in the process called transcription?
How is pre-messenger RNA modified to form messenger RNA?
How is a polypeptide synthesised during the process of translation?
What are the roles of messenger RNA and transfer RNA in translation?
What is a gene mutation?
How do deletion and substitution of bases result in different amino acid sequences in
polypeptides?
Why do some mutations not result in a changed amino acid sequence?
What are the causes of gene mutations?
How is cell division genetically controlled?
Notes
16
Totipotency and cell specialisation (pages 236-239)
Done 
Totipotent cells are cells that can mature into any body cell.
During development, totipotent cells translate only part of their DNA, resulting in cell
specialisation.
In mature plants, many cells remain totipotent. They have the ability to develop in vitro into whole
plants or into plant organs when given the correct conditions.
Totipotent cells occur only for a limited time in mammalian embryos. Multipotent cells are found
in mature mammals. They can divide to form only a limited number of different cell types.
Totipotent and multipotent stem cells can be used in treating some genetic disorders.
Regulation of transcription and translation (pages 240-243)
Done 
Transcription of target genes is stimulated only when specific transcriptional factors move from
the cytoplasm into the nucleus.
The effect of oestrogen on gene transcription
Small interfering RNA (siRNA) as a short, double-strand of RNA that interferes with the
expression of a specific gene.
Can you answer the questions?
What are totipotent cells?
Which types of cells are totipotent in plants and animals?
How do cells lose their totipotency and become specialised?
How can totipotent stem cells be used to treat human disorders?
How does oestrogen affect gene transcription?
What is small interfering RNA?
How does it affect gene expression?
Notes
17
Producing DNA fragments (pages 246-248)
Done 
Fragments of DNA can be produced by
• conversion of mRNA to cDNA, using reverse transcriptase
• cutting DNA at specific, palindromic recognition sequences using restriction endonucleases
• the polymerse chain reaction (PCR).
In vivo gene cloning – the use of vectors (pages 249-253)
Done 
In vivo cloning. The use of restriction endonucleases and ligases to insert a gene into vectors,
which are then transferred into host cells. The identification and growth of transformed host cells
to clone the desired DNA fragments. The importance of “sticky ends”.
Gene markers
- Antibiotic-resistance markers
- Fluorescent markers
- Enzyme markers
In vitro gene cloning – the polymerase chain reaction (pages 254-255)
Done 
In vitro cloning. The use of the polymerase chain reaction (PCR) to clone directly.
The relative advantages of in vivo and in vitro cloning.
The use of recombinant DNA technology to produce transformed organisms that benefit
humans.
Use of recombinant DNA technology (pages 256-261)
Done 
Genetic modification – how and why it’s done.
- Examples of genetically modified microorganisms
- Examples of genetically modified plants
- Examples of genetically modified animals
Gene therapy (pages 262-266
Done 
The use of gene therapy to supplement defective genes.
Treatment of cystic fibrosis using gene therapy
- Delivering cloned CFTR genes
Treatment of severe combined immunodeficiency using gene therapy
- Effectiveness of gene therapy
- Risks and benefits of gene therapy
Locating and sequencing genes (pages 267-270)
Done 
The use of labelled DNA probes and DNA hybridisation to locate specific genes.
- Gel electrophoresis
Once located, the base sequence of a gene can be determined by: restriction mapping and
DNA sequencing.
Screening for clinically important genes (pages 271-275)
Done 
Many human diseases result from mutated genes or from genes that are useful in one context
but not in another, e.g. sickle cell anaemia.
DNA sequencing and the PCR are used to produce DNA probes that can be used to screen
patients for clinically important genes. The use of this information in genetic counselling, e.g. for
parents who are both carriers of defective genes and, in the case of oncogenes, in deciding the
best course of treatment for cancers.
18
Genetic fingerprinting (pages 276-279)
Done 
An organism’s genome contains many repetitive, non-coding base sequences. The probability of
two individuals having the same repetitive sequences is very low.
The technique of genetic fingerprinting in analysing DNA fragments, that have been cloned by
PCR, and its use in determining genetic relationships and in determining the genetic variability
within a population.
Genetic fingerprinting - Extraction – Digestion – Separation – Hybridisation – Development
Uses of genetic fingerprinting: Forensic science / Medical diagnosis / Plant and animal breeding
Can you answer the questions?
How is complementary DNA made using reverse transcriptase?
How are restriction endonucleases used to cut DNA into fragments?
What is the importance of ‘sticky ends’?
How can a DNA fragment be inserted into a vector?
How is the DNA of the vector introduced into host cells?
What are gene markers and how do they work?
What is the polymerase chain reaction?
How does the process work?
How has genetic modification of organisms benefited humans?
What roles have genetically modified microorganisms, plants and animals played in the
beneficial use of recombinant DNA technology?
What is cystic fibrosis?
What is the cause of cystic fibrosis?
How can gene therapy be used in the treatment of cystic fibrosis?
What is the difference between germ-line and somatic-cell gene therapy?
How are DNA probes and DNA hybridisation used to locate specifi c genes?
How can the exact order of nucleotides on a strand of DNA be determined?
What is restriction mapping, how does it help to determine the sequence of nucleotides in a
gene?
How can DNA probes be used to screen patients for gene mutations?
What role does genetic counselling play in the process?
What is genetic fingerprinting?
How is genetic fingerprinting carried out?
How are the results interpreted?
For what purposes is it used?
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