Module 6

  1. How can a gene mutation occur?
    • Change in sequence of base pairs of DNA
    • substitution, deletion or insertion
  2. What is a point mutation?
    When only one nucleotide is affected
  3. What are the affects of a mutation?
    • No effect - no effect because normally functioning proteins are still synthesised ~ silent mutation, or new amino acid has similar properties to the normal one
    • Damaging - phenotype of organism negatively affected
    • ~ protein no longer synthesised/functional 
    • Beneficial - useful protein synthesised that results in a benefit
  4. What causes mutations?
    • Spontaneously during DNA replication
    • As a result of mutagens:
    • -free radicals
    • -radiation e.g X-Rays 
    • -viruses e.g insert viral DNA into a genome changing base sequence
  5. What types of mutations can occur and what are their effects?
    • Silent ~ do not change any proteins or the activity of proteins synthesised
    • -no effect on organism's phenotype
    • -can occur in non-coding regions (introns), or code for same/similar amino acid
    • -may change primary structure of protein but overall structure is the same
    • Nonsense ~ result in a stop codon instead of coding codon
    • -results in shortened protein
    • -usually non-functional 
    • Missense ~ incorrect amino acid(s) incorporated
    • -could be silent, beneficial or harmful
    • -conservative mutation when new amino acid has similar properties to original
    • -non-conservative mutation when new amino acid has different properties to original
  6. What types of chromosome mutations can happen?
    • Deletion: a section of chromosome breaks off & is lost within cell
    • Duplication: sections get duplicated
    • Translocation: section of one chromosome breaks off and joins another non-homologous chromosome
    • Inversion: section breaks off, is reversed, & joins back on
  7. What four types of gene regulation are there?
    • Transcriptional: genes turned on or off
    • Post-transcriptional: mRNA modified regulating translation and therefore the proteins produced
    • Translational: translation can be stopped or started
    • Post-translational: proteins modified after synthesis
  8. Give three examples of transcriptional control
    • Chromatin remodelling
    • Histone modification
    • Lac operon
  9. Explain chromatin remodelling in terms of gene regulation
    • Heterochromatin: tightly wound DNA ~ chromosomes visible during cell division
    • Euchromatin: loosley wound DNA ~ interphase
    • RNA polymerase cannot access the DNA when it is tightly wound, so transcription does not occur
    • -ensures proteins needed for cell division are made during interphase
    • -energy is not wasted synthesising proteins during division
  10. Explain Histone modification in terms of gene regulation
    • Histones: positively charged
    • DNA: negatively charged ~ so coils around histones
    • Histones can be modified to alter the degree of their + charge
    • -addition of acetyl groups (acetylation) or phosphate groups (phosphorylation) reduces + charge so DNA coils less tightly
    • -addition of methyl groups (methylation) makes histones more hydrophobic so they bind more tightly to each other and DNA coils more tightly
  11. Explain how the Lac operon works in terms of gene regulation
    • Regulator gene: codes for a repressor protein that prevents the transcription of structural genes by binding to the operator and preventing RNA polymerase from binding to DNA on promoter
    • -"down regulation"
    • Lactose present: if lactose is present it binds to repressor protein, changing its shape so it can no-longer bind to the operator
    • -RNA polymerase can now bind to promoter and the 3 structural genes are transcribed & enzymes synthesised
    • Image Upload 2
  12. What is the role of cAMP in transcriptional control?
    • When CRP (cAMP receptor protein) is bound to cAMP
    • Rate of transcription is increased

    • Transport of glucose into E.coli decreases levels of cAMP, reducing transcription of genes responsible for metabolism of lactose
    • -if both glucose and lactose are present, glucose is the preferred respiratory substrate that is metabolised (easier to metabolise)
  13. What happens during post-transcriptional (pre-translational) control?
    • RNA processing: pre-mRNA is modified forming mature mRNA
    • - cap added to 5' end
    • - tail added to 3' end
    • - both help to stabilise & delay degradation of mRNA in cytoplasm
    • - splicing ~ RNA cut at specific points, introns removed (non-coding DNA) & exons joined together. (occurs within nucleus)

    • RNA editing: nucleotide sequence of mRNA altered 
    • -addition, deletion or substitution
    • -giving same effect as point mutation
    • -increases range of proteins produced from single mRNA molecule or gene
  14. What is translational control and give some mechanisms of it
    • Regulation of protein synthesis
    • Degratation of mRNA: the more resistant the molecule the longer it will last and a greater quantity of protein is synthesised
    • Binding of inhibitory proteins to mRNA: prevents it binding to ribosomes & stops protein synthesis 
    • Activation of initiation factors: aid the binding of mRNA to ribosome
  15. What can happen during post translational control?
    • Modifications of poteins produced 
    • Addition of non-protein groups: e.g. carbohydrate chains, lipids or phosphates
    • Modifying amino acids: and therefore formation of bonds e.g disulfide bridges
    • Folding or shortening of proteins
    • Modifications by cAMP: e.g in lac operon cAMP binds to cAMP receptor protein increasing rate of transcription of structural genes
  16. What are Homeobox genes
    • Group of regulatory genes found in animals, plants and fungi
    • Contain a homeobox
    • -section of DNA 180 base pairs long
    • -codes for protein 60 amino acids long that is highly conserved
    • -protein binds to DNA & switches other genes on/off
  17. What are Hox genes?
    • Group of homeobox genes responsible for correct positioning of body parts in animals
    • Order of Hox genes on chromosomes is the order in which their effects are expressed
    • Animals are segmented
    • E.g Hox genes in the head control development of mouthparts
    • E.g Hox genes in thorax control development of wings, limbs or ribs
  18. What kinds of symmetry can animal bodies show?
    • Radial: have a top and bottom but no left/right. E.g jellyfish
    • Bilateral: have head and tail, left and right. Seen in most animals
    • Asymmetry: no lines of symmetry. E.g sponges
  19. How do mitosis and apoptosis control the development of body form?
    • Mitosis: results in cell division and proliferation
    • -increases number of cells leading to growth
    • Apoptosis: programmed cell death
    • -removes unwanted cells/tissues
    • -cells undergoing apoptosis can release chemicals to stimulate mitosis in other cells ~ leading to remodelling of tissues
    • -e.g webbing between fingers
  20. How can stress affect the growth and development of an organism?
    • Stress: upsets homeostatic balance within organism
    • -due to external factors E.g. temperature/light
    • -or internal factors E.g release of hormones or psychological stress
    • Affects expression of regulatory genes which control cell cycle and apoptosis

    Examples: drugs ~ thalidomide prevented normal expression of a particular Hox gene resulting in shortened limbs
  21. Give examples of phenotypic variation that are caused by both genetic and environmental factors.
    • Chlorosis in plants
    • ~ the yellowing of leaves due to lack of chlorophyll
    • -large quantities coded for genetically in most plants
    • -lack of light ~ plants stop its production to save resources
    • -mineral deficiencies ~ e.g lack of Iron/Magnesium which act as cofactors to enzymes
    • -Virus infections ~ interfere with metabolism of plants
    • Animal body mass
    • -genetic factors
    • -amount & quality of food & exercise
    • -diseases
  22. Which two words describe the types of variation you can get?
    Continuous and Discontinuous (of Discrete)
  23. What is the expected ratio when performing a dihybrid cross between F1 offspring that are heterozygous for both characteristics?
    9:3:3:1
  24. What is co-dominance and how is it represented when performing a genetic cross?
    • Occurs when two different alleles for a gene are equally dominant.
    • Both are expressed in the organism's phenotype

    • Letter chosen to represent the gene
    • Different alleles represented using a second letter in superscript
    • e.g. CRCR and CWCW CRCW for red, white & pink flowers
  25. What is a dihybrid cross?
    Shows inheritance of two different characteristics caused by two different genes
  26. Why might the expected ratio of a dihybrid cross differ in real life?
    • Random fertilisation of gametes
    • Genes being studied may be on the same chromosome ~ linked genes ~ inherited together
  27. What is linkage and what term is used to describe it when it occurs in non-sex chromosomes?
    • Genes are located on the same chromosome
    • Therefore inherited as one unit
    • -unless there is crossing over & they get separated 
    • Autosomal linkage
  28. What term is used for offspring which have different combinations of alleles to either parent as a result of crossing over?
    Recombinant offspring
  29. What is the recombination frequency and what do its values show?
    • A measure of the amount of crossing over that happens during meiosis
    • Recombination frequency = (no. of recombinant offspring) ÷ (total number of offspring)

    • 50% indicates no linkage
    • Less than 50% indicates gene linkage ~ random independent assortment is hindered

    Less crossing over due to genes being closer together means a smaller value
  30. What is the Chi-squared test? X2
    • Measures the size of the difference between actual results and expected results, and whether they are statistically different
    • Null hypothesis ~ there is no significant difference between expected and observed values
    • Degrees of freedom are calculated as n-1 (n= no. of categories)
    • ☆ X2 less than critical value there is no significant difference
    • ☆ X2 greater than or equal to critical value there is a significant difference. Null hypothesis rejected.
  31. What is epistasis?
    • Interaction of genes at different loci. 
    • e.g. gene regulation - as regulatory genes control the activity of structural genes
  32. Which words describe:
    -a gene that is affected by another gene
    -a gene that affects the expression of another gene
    • -hypostatic
    • -epistatic
  33. What two types of epistasis are there and how do they work?
    • Dominant epistasis - if a dominant allele results in a gene having an affect on another gene
    • Recessive epistasis - presence of two recessive alleles cause a gene to have an affect on another gene
  34. Define gene pool
    The sum of all the genes in a population at any given time
  35. Define allele frequency
    The relative frequency of a particular allele in a population
  36. What formula is used to calculate allele frequency?
    p + q = 1

    • p = frequency of dominant allele
    • q = frequency of recessive allele
  37. What is the Hardy-Weinburg principle?
    • "In a stable population with no disturbing factors, the allele frequencies will remain constant from one generation to the next and there will be no evolution."
    • -allows us to measure evolutionary changes when they occur
  38. What is the formula for the Hardy-Weinburg principle?
    *this will be given in the exam
    p2 + 2pq + q2 = 1

    • p2 = frequency of homozygous dominant genotype in population
    • 2pq = frequency of heterozygous genotype in population
    • q2 = frequency of homozygous recessive genotype in population
  39. What assumptions does the Hardy-Weinburg principal make?
    • The population is large and isolated
    • Random mating
    • No mutations
    • No selection pressures

    These conditions virtually never occur in a natural environment
  40. List factors which affect evolution (and therefore changes in the frequency of alleles)
    • Mutation: necessary for existence of different alleles
    • Sexual selection: leads to increase in frequency of alleles that code for mating success
    • Gene flow: movement of alleles between populations. E.g immigration and emigration
    • Genetic Drift: In small populations the presence of a new allele has a much larger impact
    • Natural Selection: leads to increase in frequency of alleles that code for beneficial characteristics
  41. In relation to population size, what is a limiting factor, and what two types are there?
    • Limiting Factor: limits or decreases the size of a population
    • Density-dependent: dependent on population size. E.g competition, predation, communicable disease
    • Density-independent: affect populations of all sizes. E.g climate change, natural disasters, human activities
  42. What is a population bottleneck?
    • A large reduction in population size that last for at least one generation
    • Gene pool and genetic diversity greatly reduced
  43. What is the founder effect an extreme example of?
    • Genetic Drift
    • As small populations have a much smaller gene pool than the original population
    • Alleles carried to the new population become more frequent
  44. What kind of distribution do the characteristics or traits of living organisms form?
    Normal distribution
  45. What three kinds of selection are there?
    • Stabilising
    • Directional
    • Disruptive
  46. What is Stabilising selection?
    • The norm or average is selected for
    • -increase in alleles for average characteristics
    • -reduces frequency of alleles that code for extreme characteristics 

    E.g birth weight of babies ~ underweight babies are more at risk of infections, while heavy babies have more difficult births. Therefore the babies most likely to survive have an average weight
  47. What is Directional Selection?
    • Occurs when there is a change in the environment and the norm is no longer the most advantageous 
    • Allele frequency shifts towards more extreme phenotypes (positive selection) 

    E.g colour of peppered moths
  48. What is Disruptive Selection?
    • Extremes selected for
    • Norms selected against

    E.g Darwin's finches
  49. What is Allopatric Speciation?
    • Happens when members of a population are separated
    • e.g by a river or the sea ~ geographically isolated
    • Different selection pressures result in different adaptations 
    • Founder effect

    • E.g Darwin's finches
    • -adaptive radiation took place leading to the rapid organism diversification and finches with many different shaped beaks specialised for the different food sources on the islands
  50. What is Sympatric Speciation?
    • Occurs within populations that share the same habitat.
    • More common in plants - members of two species interbreed forming fertile offspring that have different no. of chromosomes to parents, so can only breed with other offspring. Stops gene flow

    • E.g Fungus farming ants:
    • some parasitic ants have developed from members of the colony, and now feed on the farmed fungus

    • E.g Naked mole rats:
    • only interbreed with those that live in the same soil type
    • however do come into contact with each other
    • likely to form different species
  51. How might reproductive barriers prevent successful interbreeding?
    • Prezygotic barriers: prevent fertilisation 
    • Postzygotic barriers: often produced as a result of hybridisation, reduce viability or reproductive potential of offspring
  52. What is artificial selection?
    • Plants or animals are selected for breeding because they have desirable characteristics 
    • Inbreeding is used - offspring with the most desirable characteristics are selected and bred
    • Repeated over many generations resulting in changes to allele frequency
  53. What are some ethical concerns with artificial selection?
    Gene pool is limited → genetic diversity reduced → population's ability to adapt reduced

    Many genetic disorders are recessive, and breeding closely related organisms results in two recessive copies being inherited resulting in the disorder. (e.g cystic fibrosis)
  54. What are gene banks and what are they for?
    Store biological samples ~ e.g sperm or eggs.

    • Used to increase genetic diversity via outbreeding
    • ~ breeding unrelated/distantly related individuals to reduce occurrence of homozygous recessives & increases ability to adapt
  55. What are 'wild type' alleles and 'mutants'?
    • Wild type alleles: The allele coding for the most common or normal characteristic in a population
    • Mutants: other forms of the wild type allele that result from mutations
  56. What is satellite DNA and what types are there?
    Short sections of DNA that are repeated over and over

    • Minisatellite: 20-50 base pairs long. Repeated 50 - several hundred times
    • AKA VNTRs ~ variable number tandem repeats
    • Microsatellite: 2-4 base pairs. Repeated 5-15 times
    • AKA STRs ~ short tandem repeats
  57. How is satellite DNA used in DNA profiling?
    • Satellite DNA appears in the same places on the chromosomes
    • But individuals have different lengths of repeats
    • Closely related individuals have more similar lengths of repeats
  58. What are the 5 stages of producing a DNA profile?
    • 1. Extracting DNA
    • -only a tiny sample needed since PCR can be used to replicate it
    • 2. Digesting the sample
    • -DNA cut into small fragments
    • -restriction endonucleases
    • -cut (twice ~ both strands) at a restriction site
    • 3. Separating DNA Fragments
    • -electrophoresis
    • -gel submerged in alkali to separate double strands
    • -single-stranded fragments then transferred onto a membrane
    • 4. Hybridisation
    • -Radioactive or Fluorescent DNA probes added in excess
    • -complementary DNA/RNA to known fragments
    • -Bind to fragments to 'label' them
    • 5. Seeing the evidence
    • -X-ray images taken of paper/membrane
    • -Or placed under UV light (depending on lebels used
    • -Fragments give a pattern that is unique to every individual (except identical twins)
  59. How does electrophoresis work?
    • DNA fragments put into wells in gel
    • Buffer solution maintains constant pH
    • Electric current passed through gel
    • DNA fragments move from negative cathode to positive anode
    • -Due to DNA's negative charge ~ phosphate groups
    • Gel has mesh like structure ~ resists movement of fragments
    • Smaller fragments able to move faster so go further in set time

    • Gel put in alkaline buffer to denature DNA & split fragments into single strands
    • Southern blotting ~ strands transferred to membrane

    DNA fragments of known length used as comparison
  60. What does PCR stand for and how does it work?
    Polymerase Chain Reaction

    • 1. Separating the strands
    • 90-95°C denatures DNA by breaking hydrogen bonds therefore separating the strands

    • 2. Annealing of Primers
    • 55-60°C primers bind to the ends of DNA strands

    • 3. Synthesis of DNA
    • 72-75°C DNA polymerase - Taq polymerase - adds bases to the primer, building complementary strands 
    • Double strand identical to original is formed
  61. What are the uses of DNA profiling?
    • Forensic Science ~ identifying a criminal
    • Paternity Testing
    • Identifying the species of an organism
    • Show evolutionary links
    • Identifying individuals at particular risk of developing certain diseases
  62. What is DNA sequencing?
    Determining the precise order in which nucleotides occur within a DNA molecule
  63. How does DNA Sequencing work?
    1. DNA mixed with primer, DNA polymerase, excess of normal nucleotides, and terminator bases

    2. Placed in Thermal Cycler (used for PCR). 96°C DNA separates into 2 strands. 50°C Primers anneal

    3. 60°C DNA polymerase builds up new DNA strands by adding nucleotides to complementary bases

    4. Each time a terminator base is incorporated (instead of normal nucleotide), synthesis stops. This happens randomly, resulting in many different fragments. After many cycles, all possible fragments are made

    5. DNA fragments separated by length by capillary sequencing & fluorescent markers on terminator bases identified using a laser to tell each colour ~ therefore the sequence of bases

    6. Order of bases is the complementary strand & is used to work out sequence of original DNA strand
  64. What is a terminator base?
    • Stops DNA synthesis.
    • E.g an A terminator stops synthesis where an A base would be added
    • Have fluorescent tags
    • Less terminator bases added than normal nucleotides so that all possible DNA fragments are found
  65. How has DNA sequencing changed over the years?
    • Past: 
    • -time consuming
    • -radioactive labelling 
    • -gel electrophoresis on single gel
    • -manual 

    • Capillary method:
    • -similar to gel electrophoresis but in a capillary tube

    • Now:
    • -Faster & more automated
    • -High-throughput sequencing processes
    • -Takes place on plastic slide ~ 'flow cell'
    • -Integrated with computer technology
    • -Less costly
  66. What are Bioinformatics and Computational Biology?
    • Bioinformatics: Development of software to organise and analyse raw biological data in order to make sense of it
    • -algorithms
    • -mathematical models
    • -statistical tests

    • Computational Biology: uses data from bioinformatics to build models of biological systems that can be used to make predictions
    • -e.g. working out 3D structure of proteins
  67. What does analysing the genomes of pathogens enable us to do?
    • Doctors can find the source of an infection
    • Doctors can identify antibiotic resistant strains of bacteria to ensure treatment is effective and preventing spread of antibiotic resistance
    • Track the progress of an outbreak
    • Identify regions in genome of pathogen that may be useful targets in development of new drugs
  68. How is DNA sequencing used in classifying species?
    • "DNA barcoding"
    • Genome analysis acts as a tool in species identification by comparison to a standard sequence for the species
    • Identify sections of the genome that are common to all members of the species so comparisons can be made
    • -For animals this is a section of mitochondrial DNA in the gene for cytochrome c oxidase
    • -regions of DNA from chloroplasts used for plants
    • -Not suitable (yet, maybe ever) for fungi & bacteria

    • Finding evolutionary relationships
    • -basic mutation rate calculated & scientists can calculate how long ago two species diverged from a common ancestor
  69. What is Proteomics?
    • "The study of amino acid sequencing and an organism's entire protein complement"
    • As a gene may not always code to produce just one type of protein
    • -introns and sometimes some exons removed from pre-mRNA
    • -spliceosomes may join exons up in a variety of ways
    • -proteins get modified after they are made
  70. What is synthetic biology?
    "The design and construction of novel artificial biological pathways, organisms or devices, or the redesign of existing natural biological systems"

    • Examples:
    • -Genetic engineering 
    • -Use of biological systems in industrial contexts ~ e.g use of fixed or immobilised enzymes or the production of drugs by microorganisms 
    • -synthesis of new genes to replace faulty ones ~ e.g. in developing treatments for cystic fibrosis
    • -synthesis of an entire new organism ~ create an artificial genome
  71. What does 'transgenic' mean?
    • An organism that carries a gene from another organism
    • "A GMO ~ genetically modified organism"
  72. What are the main stages in genetically modifying an organism?
    • Isolating desired gene
    • Placing it into a vector
    • Transferring the vector
  73. How is the desired gene isolated?
    • Restriction endonucleases
    • -cut required gene from DNA
    • -many make an uneven cut leaving 'stick ends' ~ useful in inserting the gene into the DNA of another organism
  74. What happens after the desired gene has been isolated? (genetic engineering)
    • The formation of recombinant DNA using vectors
    • Plasmids:
    • -once a plasmid gets into the host cell it can combine with the host DNA to form recombinant DNA

    • Plasmid cut by same restriction endonuclease to give complementary sticky ends
    • Fragment inserted
    • DNA ligase forms phosphodiester bonds between sugar and phosphate groups on the two strands of DNA ~ joining them together
  75. What is meant by marker genes and how are they used?
    • Genes which provide scientists a way of telling if the insertion of the plasmid and DNA fragment was successful.
    • Usually two marker genes:
    • -one contains the region where the DNA fragment is added ~ so no longer works if insertion is successful
    • -the other shows that the host cell successfully took up the plasmid DNA

    • Examples:
    • antibiotic resistance
    • fluorescence 
    • production of an enzyme that causes a change in substrate colour
  76. How is the vector containing recombinant DNA transferred to the host cell?
    Process called transformation

    • Culture bacterial host cells and plasmids in calcium rich solution and increase temperature
    • -bacterial membrane becomes more permeable & plasmids enter

    • Electroporation (another type of transformation)
    • -small electrical current applied to bacteria
    • -makes membranes porous so plasmids move into cells
    • -also used on eukaryotic cells
  77. What is Electrofusion?
    • Tiny electric currents applied to two cells
    • -fuses cells and nuclear membranes
    • -forms polyploid cell containing DNA from both
    • -useful in GE of plants
    • -useful in production of monoclonal antibodies
  78. How does genetic engineering vary between different organisms?
    • Prokaryotes:
    • -easiest
    • -done to produce many different substances useful to us ~ e.g. hormones or antibiotics

    • Plants:
    • -easiest eukaryote to GE
    • -electrofusion ~  involves removal of cell wall, fusion, hormones to grow new cell wall, production of callus and then production of many cloned transgenic plants
    • -OR use a bacterium that causes tumours in plants ~ desired gene placed in bacterium, carried directly to plant cell DNA, transgenic plant forms callus, the cells form which can be used to grow new individual plants

    • Animals:
    • -hardest, especially mammals
    • -cell membranes less easy to manipulate
  79. What are the Pros and Cons of GM Microorganisms?
    • PROS
    • -modified to produce many useful substances in large quantities. ~ useful in medicine. E.g. Insulin
    • -GM microorganisms used to store a living record of DNA of other organisms in DNA libraries ~ e.g. sections of human genome for the HGP which can be later used for further study
    • -Industrial processes

    • CONS:
    • -Biological warefare ~ GE of pathogens to make them resistant to all treatments, or more virulent
  80. What are the Pros and Cons of GM Plants?
    • PROS:
    • -help feed ever-growing population
    • -could overcome environmental issues such as excess carbon dioxide and pollution
    • -insect resistance ~ SOYA → gene inserted so they produce protein toxic to insects → reduces need for expensive 
    • -Disease resistance
    • -Herbicide resistance
    • -Extended shelf life
    • -Altered growing conditions
    • -Better nutritional value


    • CONS: 
    • -Insects may become resistant to pesticides
    • -Disease resistance may spread to weeds → superweeds
    • -Reduced biodiversity if herbicides are overused to destroy weeds
    • -Reduced commercial value due to extended shelf life
    • -allergies to proteins in GM crops
  81. What issues surround patenting and technology transfer?
    • Patents may prevent people in LEDCs form using the technology
    • -since they have to pay whoever came up with it
    • -The people who need it most cannot use it
  82. What applications of genetic engineering are used in animals?
    • Resistance ~ giving livestock resistance to certain diseases
    • Faster Growth ~ genes from faster growing animals inserted so GM animals (e.g Salmon) produce more growth hormone and grow faster

    • Pharming:
    • Creating animal models
    • -addition or removal of genes so animals develop certain diseases and can act as models for treatment developments
    • Creating human proteins
    • -introduction of human gene for medically required protein that bacteria are not capable of making
    • -put in fertilised cow/sheep/goat egg
    • -transgenic animal born
    • -produces milk containing desired human protein
  83. What ethical issues surround GM animals?
    • Should animals act as models for human disease?
    • Is it okay to put human DNA into animals?
    • What if it causes harm to the animal?
    • Does it reduce animals to commodities?
    • Is their welfare compromised?
  84. What are the two types of gene therapy?
    • Somatic cell gene therapy
    • Germ line cell gene therapy
  85. What is Somatic cell gene therapy?
    Replaces mutant allele with healthy allele in affected somatic ~ body ~ cells

    • Some difficulty in getting the alleles into the affected cells, getting plasmids into nucleus of cells, and maintaining expression of the allele 
    • -since somatic cells only have a limited life and are eventually replaced from stem cells which contain faulty allele
    • Temporary
    • Still pass mutant allele onto offspring
  86. What is Germ line cell gene therapy?
    Inserting healthy allele into germ cells ~ usually eggs ~ or embryo immediately after fertilisation (as part of IVF)

    • Gives healthy individual
    • Would pass on healthy allele to offspring

    • Currently illegal in many countries
    • -impacts unknown
    • -against unborn individual's consent
    • -could give rise to 'designer babies'
  87. What is an ecosystem?
    All of the living and non-living factors that interact within a given area
  88. What is ecological efficiency?
    The efficiency at which biomass or energy is transferred from one trophic level to another
  89. How do you calculate ecological efficiency?
    • (energy/biomass available after the transfer) ÷ (energy/biomass available before the transfer) 
    • (all x100)
  90. How do you calculate net production? (of biomass/energy)
    Gross production - respiratory losses
  91. What is a decomposer?
    An organism that feeds on and breaks down dead plant/animal matter, turning organic compounds into inorganic ones
  92. What term refers to organisms that get their energy from dead or waste organic material?
    Saprotrophs
  93. What term refers to organisms that help speed up decomposition by feeding on dead an decaying material, breaking it into smaller pieces?
    • Detritivores 
    • e.g. woodlice and worms
  94. What is nitrogen fixation?
    • atmospheric nitrogen N2 combined with H2 to form ammonia NH3
    • -can be absorbed and used by plants
  95. How does nitrogen fixation take place?
    • Nitrogen fixing bacteria contain nitrogenase
    • Azotobacter live in soil
    • Rhizobium live inside root nodules and exchange nitrogen fixation for carbohydrates form the plant
  96. What is Nitrification?
    Process by which ammonium compounds in soil are converted into nitrogen-containing molecules that can be used by plants
  97. How does nitrification take place?
    • Nitrifying bacteria 
    • Oxidation reaction (needs well aerated soil)
    • 1: Nitrifying bacteria ~ Nitrosomonas ~ oxidise ammonium compounds into nitrites NO2-
    • 2: Nitrobacter (another genus of nitrifying bacteria) oxidise nitrites into nitrates NO3-
  98. What is denitrification?
    • Denitrifying bacteria convert nitrates in soil back to nitrogen gas in anaerobic conditions. E.g. waterlogged soil
    • Use nitrates as energy source for respiration
  99. What is Ammonification?
    Process by which decomposers convert nitrogen containing molecules in dead organisms/waste into ammonium compounds
  100. When are carbon dioxide levels at their highest in the day?
    Night ~ when plants are not photosynthesising
  101. How does global warming reduce the carbon bank in the oceans?
    Warmer water can hold less dissolved CO2
  102. What is succession?
    • Progressive replacement of one dominant type of species/community by another in an ecosystem
    • until stable climax community is reached
  103. What are the two types of succession
    • Primary: area of new land/newly exposed. No soil or organic matter to begin with
    • Secondary: Soil present with no plant/animal species. E.g after forest fire
  104. What term describes the stages of succession?
    seral stage

    At each stage key species are identified that can change the abiotic factors
  105. What are the main seral stages?
    • Pioneer community
    • Intermediate community
    • Climax community
  106. What is humus?
    The organic component of soil from decomposition of organisms from the pioneer species
  107. When does biodiversity reach its peak?
    Mid-succession
  108. What is deflected succession and what is its final stage referred to as?
    • Human activities can halt natural succession
    • Plagioclimax ~ final stage formed as a result of succession being halted artificially
    • e.g. agriculture & conservation
  109. How do you calculate an estimated population size using capture, mark, release, recapture? (what formula?)
    • Esitmated population size = (number of individuals in first sample x no. of individuals in second sample) ÷ (Number of recaptured marked individuals)
    • Lincoln Index
  110. Describe the three stages of a population growth curve
    • 1. Slow growth. A few individuals are breeding
    • 2. Exponential growth. Greater no. of breeding individuals. No constraints on population size
    • 3. Stable state. Carrying capacity is reached. Fluctuates around point. Birth rate = death rate
  111. What is migration
    • Immigration - moving into a new area, increasing its population
    • Emmigration - moving away from an area, decreasing its population
  112. What are density independent factors?
    • Factors that affect the whole population regardless of it's size.
    • E.g natural disaster
  113. What types of competition are there between organisms?
    • Interspecific 
    • Intraspecific
  114. What is the competitive exclusion principle?
    • Two species compete for a limited resource
    • The better adapted one will outcompete the other
    • The less well adapted species will decline in numbers
  115. What are conservation and preservation?
    • Conservation: the maintenance of biodiversity through human action or management
    • Preservation: the protection of an area by restricting or banning human interference 
    • -e.g. marine conservation zones
  116. What is reclamation?
    • The process of restoring ecosystems that have been damaged or destroyed.
    • -e.g. by floods or building work
  117. What are the three main reasons for conservation?
    • Economic - resources needed for humans to survive and make an income
    • Social - people enjoy natural beauty
    • Ethical - all organisms have a right to survive
  118. What is a sustainable resource?
    Renewable resource that is being economically exploited in such a way that it will not diminish or run out
  119. What technique is used for small scale timber production?
    • Coppicing 
    • Tree trunk cut close to ground
    • New shoots develop & mature
    • Harvested
    • Rotational coppicing 
    • -don in areas at a time to give sections time to develop and grow
    • Pollarding 
    • Similar to coppicing but trunk is cut higher up to prevent access by deer to the new shoots
  120. How can large scale timber production be sustainable?
    • Selective Cutting - only take the largest trees
    • Replant trees - helps ensure biodiversity, mineral and water cycles are maintained
    • Plant trees at optimal distance - yield more wood
    • Manage pests & pathogens
  121. How can fishing be made sustainable?
    • Quotas
    • Nets with certain mesh size
    • Prevent fishing at certain times of year
    • Fish farming
  122. How is the Masai Mara managed?
    • Removal of acacia bush which was a habitat for a fly that carried disease
    • Grazing limited to certain areas
    • Ecotourism 
    • -ensures tourism doesn't exploit natural environment/local communities
    • -consults & engages w local communities 
    • -ensures benefit to local people as well as visitors
    • Reserve rangers to prevent poaching
    • Scientific research projects to help understand the impacts of developments in the area
    • Balance striked between human land use and wildlife
  123. How is the Terai region of Nepal managed?
    • Sustainable forest management
    • -supportive government legislation
    • -development of local community forestry groups which work together
    • ~e.g. gaining Forestry Stewardship Council (FSC) certification, which rewards sustainable forestry

    • Sustainable agriculture
    • -growing multiple crops
    • -growing nitrogen fixing crops
    • -growing crops resistant to certain challenges ~ use of modern biotechnology and GE
    • -using manure
    • -growing crops in the hills
  124. How are Peat bogs conserved?
    • Maintain or restore water levels
    • Avoid disturbance 
    • Reduce ditches
    • Remove seedlings
    • Controlled grazing
  125. How do human activities affect the Galapagos Islands and how are they managed
    • Disruption of ecosystems
    • -domestic animals roam loose
    • -fires
    • -cutting forests
    • -hunting tortoises

    • Measures implemented:
    • -Park rangers
    • -limiting human access
    • -controlling migration to and from islands
    • -strict control of introduced animals ~ eg pigs
  126. How do human activities affect Antarctica and how are they managed?
    • Affects:
    • -global warming
    • -hunting of whales, seals and fish leads to depleted stock
    • -soil contamination
    • -discharging of waste into the sea

    • Management:
    • -Antarctic treaty
    • -scientific cooperation between nations
    • -protection of the antarctic environment
    • -conservation of plants and animals
    • -management of tourism
    • -designation of managed and protected areas
  127. How are human activities controlled at Snowdonia
    • National park
    • Conserve & enhance natural beauty, wildlife and culture
    • Promote understanding & enjoyment of the park
    • Enhance social & economic communities within park

    Power station built inside mountain to preserve natural beauty
  128. How are human activities controlled in the Lake district?
    • National Park Authority
    • -conserves region while enabling access to visitors
    • Active management of countryside
    • Replanting of tree species
Author
Hebe
ID
331873
Card Set
Module 6
Description
Biology Module 6 - Genetics, evolution and ecosystems
Updated