2324 S6 Summer Exam Final Concept List
2324 S6 Summer Exam Final Concept List
2324 S6 Summer Exam Final Concept List
The summer examination will follow the general format of the BAC examination with a ‘guided
exercise (46 marks), a ‘synthesis exercise’ (29 points) and a mini-essay (20 points) with a further 5
marks being allocated for the quality of the English, writing and presentation.
Part 1 Cells
1. Recall the cell cycle and what happens in interphase, mitosis and cytokinesis
https://www.youtube.com/watch?v=0dMLBzaIcsc mitosis
- Interphase: replicating of absolutely everything
3. Describe mitosis at the cellular level. One cell divides to produce two genetically identical
cells.
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4. DNA replication occurs during interphase in mitosis to effectively double the amount of
chromosomal material present
5. DNA replication occurs during interphase in meiosis also to effectively double the amount of
chromosomal material present, although instead of resulting in two cells with a diploid
number in each cell, it results in four cells, each with a haploid number in each cell
6. Recall the cell cycle and what happens in interphase, meiosis and cytokinesis
- Meiosis I is very similar to mitosis. The only differences are:
o In Prophase, crossing over occurs.
o Mother’s and father’s chromatids line up very randomly at equator.
o Decondensing doesn’t happen in Telophase.
- Meiosis II is almost the same, it just doesn’t have interphase, so the genetic material is
halved in the end:
- In Prophase, crossing over doesn’t happen again.
7. Draw and label diagrams of meiosis, explaining what happens in each stage: interphase
1/prophase 1/metaphase 1/anaphase 1/telophase 1 interphase 2/prophase 2/metaphase
2/anaphase 2/telophase 2.
https://www.youtube.com/watch?v=Uyf03tEjdvE
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- Occurs when homologous pairs get pulled apart wrong by the spindle fibres in anaphase.
- If it happens in M1, it causes aneuploidy in all 4 daughter cells (2 trisomy, 2 monosomy)
- If it happens in M2, only half of the daughter cells are affected (1 trisomy, 1 monosomy)
14. Mutations: Polyploidy: definition and causes: Explain in detail how genetic mutations give
rise to polyploidy. Be able to illustration how these occur naturally such as in tetraploids and
how they occur naturally or artificially to make triploids which are sterile. What is he
advantage to the produce of breeding organisms that are sterile ?
- Polyploidy: condition where there is an alteration to the number of a complete set of
chromosomes.
- Caused by failure of cytokynesis during Telophase 1: results in only 2 daughter cells.
- It can also occur in Telophase 2, but the result is the same.
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15. Mutations: Gene: sickle cell anemia the result of possessing both sickle cell alleles which
cause disruption in the beta-chain of haemoglobin by changing just one amino acid in the
entire Beta chain of 146 amino acids. This results in the formation of a long linear chain
given the cells which have both alleles a ‘sickle’ shape
16. Be aware of the concept of heterozygous advantage regarding the sickle cell allele = in
malarial areas carriers of the sickle cells allele are less likely to contract malaria
- When a single copy of a disease allele doesn't result in a disease but instead is good for the
person or organism that carries it, we say that allele has a heterozygote advantage.
- One example is sickle cell trait, which protects against malaria in heterozygotes, but
causes a deadly disease in homozygotes.
17. On-going DNA repair and maintenance in cells: example of a ‘thymine dimer’ . . . associated
with exposure to UV light
- A thymine dimer is when a pair of adjacent thymine bases abnormally chemically bond to
each other in DNA. Can happen because of UV radiation, and it is repaired when a
nuclease enzyme cuts out the damaged area & removes it.
18. Be aware of methods used to detect genetic abnormalities in a foetus : amniocentisis and
choronic villus sampling
- Amniocentesis: technique in which a sample of amniotic fluid containing foetal cells is
withdrawn and centrifuged. Cells that it contains are grown on a culture dish and
subsequently a karyotype is established. Cannot be done until the 14th to 16th week of
pregnancy. Risk of spontaneous abortion 0.5-1% higher
- Chorionic villus sampling: procedure in which a small amount of the placenta is removed.
Done during 10th to 12th week of pregnancy. Risko of spontaneous abortion 1-2% higher.
- Harmony test: blood test at 10 weeks.
19. Know what a karyotype and karyogram are and be able to interpret same
- Karyotype: set of chromosomes. Karyogram: a diagram or photograph of the
chromosomes of a cell, arranged in homologous pairs and in a numbered sequence
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24. Describe the structure of DNA and RNA and the differences between them.
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- 2 strands of DNA unwind from each other, and each acts as a template for synthesis of a
new, complementary strand
26. Describe and interpret an experiment to show that DNA is reproduced semi-conservatively.
27. What is PCR ? Describe the process of PCR. What is it used for ?
- PCR (polymerase chain reaction) is used to replicate trace amounts of DNA (eg from a
crime scene) so that they can be studied.
- Materials: DNA/RNA sample, DNA primers, DNA polymerase, nucleotide solution.
- Step 1: Denaturation. Sample is heated to at least 94℃ which breaks the hydrogen bonds
and makes the DNA single stranded.
- Step 2: Annealing. The mixture is cooled to 50-60℃, allowing the primers and
polymerase to bind to the DNA along with the nucleotides.
- Step 3: This heating and cooling down process is repeated 35-40 times, doubling the
amount of DNA every time.
28. Explain how electrophoresis can be used to separate strands of DNA (charge and acidic
nature)
- The buffer solution used in gel electrophoresis has charged ions which allow current to
flow through the gel. DNA fragments are negatively charged, so as the charge moves
through them, they move towards the + electrode.
- Buffer solution is also used to keep the samples at appropriate pH levels to preserve their
charge or structure. Most buffer solutions are at pH 8.6, but it ranges a lot (~3-10)
29. Describe the function of each of the following in DNA replication:
- DNA helicase: unzips the DNA by breaking H-bonds
- Replication fork/bubble: the point that is currently unzipping. In eukaryotes, there can be
multiple origin points to speed up the process because DNA is linear and long.
- DNA polymerase III: Builds complementary DNA strand and proofreads after.
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- DNA polymerase I: Removes RNA primers and replaces them with DNA once pol III is
done (elongation).
- Leading strand: DNA pol II can only move along the DNA in the 5’ to 3’ direction, and
DNA is antiparallel, so one side is facing the wrong way. Leading strand is going towards
the fork.
- Lagging strand: going away from the fork. DNA pol III kind of does a bit in the right way,
jumps way back and does another bit. These bits of DNA that the pol made are called
Okazaki fragments.
- RNA primase: lays down a primer so DNA pol III knows where to begin.
- Exonuclease: proof reads and removes/repairs unusual DNA structures
- DNA ligase: joins Okazaki fragments together.
30. Know and apply the Law of Segregation -Mendel I (tt x TT)
- Character Traits Exist in Pairs that Segregate at Meiosis. At gamete formation, the two
alleles at a gene locus segregate from each other; each gamete has an equal probability of
containing either allele
31. Know and apply the Law of Independent Assortment – Mendel II (ttHh x Tthh)
- Genes do not influence each other with regard to the sorting of alleles into gametes, they
get sorted independently
32. Know the exceptions to independent assortment (ie linkage including sex linkage)
- Linkage is an exception because since linked genes do not separate in meiosis (except in
crossing over) they are not independent
- Sex linkage is inherited differently because X and Y chromosomes have different loci (X
has more)
33. Describe and explain the differences between transcription in pro- and eukaryotes.
- The RNA processing takes place in the cytoplasm for prokaryotic transcription and in the
nucleus for eukaryotic transcription.
- There is only one type of RNA polymerase enzyme in prokaryotic transcription, and it
helps to synthesise all the other types of RNA in the cells
34. Describe the differences between DNA replication and transcription.
- Replication creates identical DNA strands, while transcription converts DNA into
messenger RNA (mRNA).
35. Describe the process of translation in eukaryotes including the following:
- After transcription the mRNA leaves the nucleus and attaches to a ribosome.
The importance of the codon each codon codes for a particular amino acid
The importance of the start codon - Makes the reading of the mRNA start
The importance of the stop codon(s) - Stops the translation. Without, we would make too
much of a polypeptide (cancer).
The idea of degenerate codons - Codons that are mutated or do not work.
36. Write the sequence of nucleotides on a DNA template strand from the complementary bases
on the coding strand.
37. Write the sequence of nucleotides on an mRNA strand from the complementary bases on the
coding strand.
38. Describe the symptoms of sickle cell anaemia and explain these on a molecular and genetic
level.
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- Paleness
- Fatigue
- Yellow eyes/skin
- Fever
- Breathlessness
- Rapid heart rate
- Delayed growth and puberty
- Ulcers on lower legs in teenagers and adults
- Jaundice
- Bone pain
- Attacks of abdominal pain
39. Explain what is meant by a point mutation including substitution, addition and deletion of
bases and how these can lead to
Non-sense mutations: STOP codon; premature termination of polypeptide
- Mis-sense mutations: the altered codon still codes for an amino acid but not the correct
one.
- Same sense mutations: the altered codon codes for the same amino acid.
- Frameshift mutations: occur when the number of nucleotides inserted or deleted is not a
multiple of 3.
40. Describe the genetic causes and symptoms of the following genetic diseases:
- Turner’s syndrome (aneuploidy) = only 1 X chromosome in females
Lack of sexual development and infertility
Short
Broad based neck
- Down’s syndrome (aneuploidy) = trisomy 21
Short
Heart defects
Intestinal problems
Mental Retardation
Shorter palate
Longer tongue
- Kleinfelter’s syndrome (aneuploidy) = XXY chromosomes
Small testes
Breast enlargement
Taller than average
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Reduced libido
Poor erections
Fatigue
Infertility
Osteoporosis
Depression
41. Describe the causes of mutations including:
- UV: the base pairs cytosine and thymine pair with other cytosine and thymine instead
guanine and adenine, respectively. These mismatches form bulges that tend to bend the
DNA.
- Radioactivity: directly affects DNA structure because it has enough energy to remove
electrons from atoms and change the chemical composition of the DNA.
- X rays: ionizing radiation. Breaks DNA sequences and leads to chromosome
rearrangement.
- Chemical mutagenic agents: some act as base analogs and are mistakenly used when new
DNA is synthesized, some react directly with DNA causing structural changes.
- Tobacco smoke: carcinogens bind to DNA and cause changes in the sequence.
42. Interpret a karyogram to determine chromosomic mutations, gender and genomic mutations)
43. Understand the importance of mitochondrial DNA and how mutations in it can lead to
abnormalities, and even infertility
- Regulates cellular metabolism (produces ATP)
- MT DNA mutations are often inherited. Mutations at high levels cause mitochondrial
dysfunction, which has consequences on ATP levels and other cellular processes
44. Describe the purpose of identical twin studies in genetics.
45. Be able to interpret family/pedigree trees and adjudicate on whether a trait is (i) dominant or
recessive and (ii) autosomal or sex-linked
46. Describe and explain the following sex linked diseases including interpretation and
explanation of family/pedigree trees:
- Red-green colour blindness: X-linked.
- Haemophilia: X-linked – causes a mutation in the gene that codes for the making of blood
clots.
- Duchenne’s muscular dystrophy: X-linked – causes weak and degenerating muscles.
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47. Recall the structure of a phospholipid molecule with hydrophilic ‘head’ and a hydrophobic
‘tail’
49. Understand what is meant by the “Fluid Mosaic Model” when applied to cell membranes
50. Discuss the functions of the cell membrane and be able to elaborate on how it is able to carry
out these functions
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- Keeps wanted things in, unwanted out and allows transport of them (bilayer)
- Plays a role in cell signaling and communication (glycocalyx)
- Gives the cell structure (cholesterol)
51. Distinguish between diffusion, facilitated diffusion and active transport and be able to give
examples
- During passive diffusion, a molecule simply dissolves in the phospholipid bilayer, diffuses
across it, and then dissolves in the aqueous solution at the other side of the membrane
- facilitated diffusion: with help of proteins
- active transport: uses energy to transport molecules across the plasma membrane. This uses
energy from ATP. They also use pumps to get molecules in or out of the cell. And it takes
advantage of concentration or electrochemical gradients
52. What governs the rate of transfer of molecules across a cell membrane eg concentration
gradient, molecular size, electric charge
- Oxygen carbon dioxide and most lipids use simple diffusion
- Carbs, amino acids, nucleosides, and ions (polar molecules) use facilitated diffusion
- Active transport is usually associated with accumulating high concentrations of molecules,
for example the uptake of glucose in intestines or sodium/potassium pumps
53. Be able to describe how ‘secondary active transport’ enables, for example, glucose to be
accumulated in concentrations up to 30,000 times greater than that found in the lumen of the
gut.
- Primary active transport directly uses a source of chemical energy (e.g.) ATP) to move
molecules across a membrane against their gradient. Secondary active
transport (cotransport), on the other hand, uses an electrochemical gradient – generated by
active transport – as an energy source to move molecules against their gradient, and thus
does not directly require a chemical source of energy such as ATP.
54. Know about actional potentials, threshold and nerve impulse travel as well as the role of
inhibitors
- All over the neuron’s cell membrane there are proteins called Sodium/Potassium Pumps.
- When the neuron is at rest, these pumps are taking 3 Sodium ions from inside the cell and
bringing the outside, and at the same time taking 2 Potassium ions from the outside in.
- Since the ratio is 2:3 there is an electrical imbalance - the outside is +, the inside is –
- 1: Cell at rest
- 2: When the stimulus arrives, the Sodium channels open and Sodium ions flood in from the
outside back into the cell. This makes the voltage shoot up from -70 all the way to 40. Next
the Na chamber closes back up
- 3: The Potassium channels open and K ions flood from the inside out, which makes the
voltage go way down and balance out the cell again. Then the. Channel closes again
- 4: However, a bit too many K ions leave and the voltage overshoots a bit
- 1: Voltage balances out again and the cell is at rest.
- The calcium channels open and calcium ions flood in. Then they close again
- The calcium ions push the vesicles that contain the neurotransmitters down to the bottom
of the knob and since the membranes of the vesicles and of the cell are the same
(phospholipid bilayer) they kind of fuse.
- This makes the neurotransmitters free in the synaptic cleft and they drift across it to the
receptor site of the sodium channels on the post synaptic knob
- An action potential (number of neurotransmitters) must be reached for the conformational
change to happen. This opens the sodium channels.
- Sodium ions flood into the cell, generating an electrical impulse that then travels down the
cell.
- Post synaptic neuron depolarises. For example, acetylcholine (neurotransmitter) gets
broken down by acetylcholinesterase so that the sodium channels close and it doesn't keep
generating a conformational change (if the pain neurotransmitters stayed there forever,
you'd be in pain forever)
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56. Be aware of nerve poisons such are curare, strychnine, batrachotoxin, tetrodotoxin and botox
and their mode of action on the brain and mind
- An agonist is a drug that binds to the receptor producing a similar response to the original
chemical.
- An antagonist is a drug that binds to the receptor and fully stops anything from happening.
Competitive: reversible, non-competitive: irreversible
- Curare (first paralytic used in anesthesia) binds to acetylcholine receptors and causes skeletal
muscle paralysis. Competitive antagonist.
- Strychnine (pesticide/raticide) Inhibits glycine receptors in the spinal cord, brain stem, and
higher centers. It increases neuronal activity and excitability, leading to increased
muscular activity. Competitive antagonist.
- Batrachotoxin (skin of dart poison frogs) binds to and irreversibly opens the sodium
channels of nerve cells and prevents them from closing. The neuron can no longer send
signals and this results in paralysis. Agonist.
- Tetrodotoxin (found in pufferfish and other fish) blocks the sodium pump, so the
propagation of nerve impulses. This stops action potential from ever generating and
causes muscle paralysis or death. Noncompetitive antagonist.
- Botox (protein made from botulinum toxin that temporarily paralyzes muscles) inhibits the
release of acetylcholine. antagonist
57. Be aware of various psychoactive drugs including alcohol, nicotine, opiates, cocaine,
cannabis and MDMA and their mode of action on the brain and mind
-
58. Be aware of the issues of addiction that surround the use of psychoactive drugs
Part 4: Evolution
65. Recount some of the critical evidence that can be used to support the theory of natural
selection as proposed by Darwin
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- Homologous structures
- The existence of vestigial structures, for example the appendix, which used to be for
digesting tough herbivorous food such as the bark of a tree. Other examples are
goosebumps, which were to make hair stand up and insulate better, and wisdom teeth,
which were to make eating hard food easier (raw plants, nuts, tough meat)
- Biogeographical patterns, for example birds who lost the ability to fly because it became
unnecessary when there was no predators.
- The universality of the genetic code – (almost) all living organisms use the same genetic
code.
- Gene sequence comparisons
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Part 5: Ecology
68. Understand the language of ecology. Be familiar with the terms population, community,
ecosystem, biome, biosphere, habitat, niche, competition, inter- and intra-specific interactions
- Ecology: the study of organisms and their environments and the interactions between them
- Population: a group of individuals of the same species living in a habitat
- Community: an interacting group of different species in a common location
- Ecosystem: a community of living organisms
- Biome: large environment generally characterized by various abiotic factors
- Biosphere: region of earth that encompasses all living organisms
- Habitat: natural home or environment of an organism
- Niche: position of a species within an ecosystem
- Competition: relationship between two organisms that strive for the same resources in the
same place.
- Interspecific interactions: between different species
- Intraspecific: between the same species
69. The notions of food chains and food webs
- Food chain: sequence of transfer of food from organism to organism
- Food web: complex network of food chains
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72. Explain the thinking behind why there are usually only four or five trophic levels in a food
chain – because of the loss of energy between each level
73. There are different types of competition and species interactions including symbiosis,
predator-prey, commensalism, parasitism as seen with N fixing bacteria, mychoriza, gut
bacteria, insects and plants during pollination.
- Symbiosis: close prolonged association between species. Mutualistic: beneficial to both.
Parasitic: not.
- Commensalism: one organism benefits, the other doesn’t
- Mycorrhizae: symbiotic relationship between plant roots and fungi
- Bees and flowers: mutualistic
74. Be familiar with various concepts of population growth – exponential, S-curve (carrying
capacity) linear; predator prey – model human population growth
75. More organisms are born than there are the resources to support them and from this we have
the term carrying capacity of an ecosystem. Be able to describe this term.
- Carrying capacity is the maximum population size that an ecosystem can support.
76. In terms of the management of the earth’s resources be aware of the idea that in the eyes of
some, something that is owned by everyone is potentially looked after by no-one; be able to
use the concept of “The Tragedy of the Commons” to support this idea
- Unregulated use of commonly held resources by self-interested individuals will inevitable
lead to the ruin of those resources
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