Genetic Change Flashcards

(118 cards)

1
Q

How do mutations occur?

A
  1. spontaneous mutations: e.g. naturally occurring electromagnetic radiation from sun causes cancer
  2. induced mutations: e.g. artificially electromagnetic radiation
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2
Q

where do mutations occur?

A
  1. germine mutation
  2. somatic mutation
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3
Q

what are the types of mutations?

A
  1. chromosome mutation
  2. chromosome abnormalities
  3. point mutation
  4. substitutions
  5. frame shift
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4
Q

What is a Mutagen?

A

A chemical or physical agent that interacts with DNA and causes a mutation.

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5
Q

Carcinogenic mutagens

A

causing mutations that result in cancer

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6
Q

What are the DNA repair mechanisms?

A
  1. base excision repair
  2. nucleotide excision repair
  3. mismatch repair
  4. double stranded break repair
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7
Q

what are the three mutagens?

A
  1. physical e.g. electromagnetic radiation
  2. chemical e.g. x rays
  3. naturally occurring e.g. virus in host cells
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8
Q

electromagnetic radiation

A

transmitted through waves e..g UV radiation acts as mutagen casing 2 adjacent base pairs to form covalent bonds causing dimer structure

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9
Q

5 ways mutations classified

A
  1. DNA affected (gene or chromosome)
  2. arise (spontaneous or induced)
  3. change DNA structure (point, frameshift, deletions, insertions, translocations)
  4. DNA functioning and proteins (nonsense, missence, neutral, silent)
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10
Q

point mutation

A

gene mutation in which a single base pair in DNA has been changed
1. substitution
2. frameshift

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11
Q

Subsitution mutation

A

1 base is change for a different base e.g. sickle cella Anaemia
1. missense: change in amino acid
2. non sense: stop codon
3. silent/neutral: sam amino acid

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12
Q

frameshift mutation

A

mutation that shifts the “reading” frame of the genetic message by inserting or deleting a nucleotide
1. insertion
2. deletion

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13
Q

gene mutation

A

a change in the base sequence of a gene

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14
Q

chromosomal mutation

A

A change in the chromosome structure, resulting in new gene combinations

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15
Q

chromosomal deletion

A

A mutation involving the loss of a section of a chromosome

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16
Q

chromosomal duplication

A

A mutation involving the duplication of a section of a chromosome

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17
Q

chromosomal inversion

A

When part of the chromosome becomes oriented in the reverse of its usual direction

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18
Q

chromosomal insertion

A

section breaks off and attaches to different chromosome which lowers genetic variation

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19
Q

chromosomal translocation

A

When part of one chromosome breaks off and attaches to another non homologous, chromosome.

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20
Q

Aneuploidy

A

Abnormal number of chromosomes.

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21
Q

example of aneuploidy

A

Down syndrome (trisomy 21) extra copy of chromosome 21

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22
Q

karyotype chromosomal diagnosis

A

describes abnormality and if there is a disability

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23
Q

somatic and germline mutations

A
  1. somatic: most mutations not inherited
  2. germline: in gonads producing gametes and mutation inherited
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24
Q

effect of somatic mutation

A
  1. no effect
  2. cell dies
  3. becomes cancerous
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25
effect of germline mutation
1. no gamete involved means no effect 2. gametes involved new inheritance mutation
26
what are examples of non coding DNA (introns)
telomeres: protect chromosome deterioration
27
chromosomal errors
crossing over fails and chromosomal aberrations may be introduced e.g. inverted
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what are changes in chromosomal numbers (non-disjunction)?
when sister chromatids do not separate correctly e.g. Down syndrome
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difference in mutation, variation, variability
mutation: unusual error variation: difference in characteristics variability: different forms of gene in population
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selective pressure
when the environment pushes an individual or population to adapt or evolve
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sexual selection
when individuals select mates based on heritable traits
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mutation
formation of new alleles
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genetic drift
A change in the allele frequency of a population as a result of chance events rather than natural selection.
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founder effect
change in allele frequencies as a result of the migration of a small subgroup of a population e.g. colonisation
35
bottle neck effect
A change in allele frequency following a dramatic reduction in the size of a population
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gene flow (migration)
movement of alleles from one population to another e.g. immigration
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Biotechnology
A form of technology that uses living organisms, usually genes, to modify products, to make or modify plants and animals, or to develop other microorganisms for specific purposes.
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ancient biotechnology
1. farming and selective breeding 2. crossbreeding 3. food production (cheese and bread) 4. fermentation (alcohol ) 5. medicine (plants and herbs)
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Modern Biotechnology
1. DNA splicing (restriction enzymes splice bases) 2. DNA amplification (polymerise chain reaction tor replicate) 3. recombine DNA (DNA ligase joins fragments)
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social and ethical implications
agriculture(GM): GM organisms, habitat destruction industrial (anthrax): bioterrorism, increased defence medical (insulin): labelling, animal welfare
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biological control
the intentional release of a natural enemy to attack a pest population
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Bioterrorism
the deliberate spread of pathogenic organisms into a community to cause widespread illness
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BIOTECHNOLOGY monoclonal antibodies
collection of identical antibodies that interact with a single antigen site
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examples of gene technology
1. gene silencing 2. marker assisted breeding (desirable traits) 3. CRISPR-Cas9 (restriction nuclease to regulate genes)
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why is biotechnology limited?
1. financial positions 2. lifestyle 3. social profile
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example of biotechnology for greater good
1. recombinant DNA for BT Cotton 2. genetically modified organisms for golden rice
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what is golden rice
GM rice crop enhanced with Vitamin A POSITIVE: more nutritional value and vitamins kore accessible NEGATIVE: increased retail price, adding new genes to gene pool
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difference between traditional and bio fortification
fortification: nutrients added while processing bio fortification: breeding crops with added nutritional value e.g. golden rice
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social implications of biotechnology
1. privacy (DNA profiling stores information) 2. health (GM have different ingredients) 3. societies views (damage environment) 4. social equality, access, cost (golden rice)
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ethical implications of biotechnology
1. legal implications (who should know of genetic disorders) 2. medical intervention and consent (pregnant woman of disorder that can't be treated) 3. philosophical, cultural and religion (acting as God) 4. animal welfare (transgenic pigs impact joints)
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loss of biodiversity
overtime reduced increase in biotechnology
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conservation biology
short term new gene means more variation
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uses of biotechnology
1. agriculture (Bt Cotton) 2. industrial (bacteria to decrease toxic waste) 3. medical (knockout mice to model diseases like cancer)
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Bioremediation
The use of living organisms to detoxify and restore polluted and degraded ecosystems
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Biosensors
Microbes that can locate biologically active pollutants
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Biopharming
Use of genetically engineered animals to act as biofactories for producing drugs, vaccines, antibodies, hormones, industrial chemicals such as plastics and detergents, and human body organs.
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Xenotransplantation
A transplantation of an organ, tissue, or cells between two different species.
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future use of biotechnology
e.g. coral reefs reduce devastation on coral reeds by global warming, increase water temp and bleaching 'super coral' though selectively breeding coral, investigating genomes and insert genes from heat resistant corals through CRISPR-Cas9
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reproductive technologies
1. selective breeding 2. artificial insemination 3. artificial pollination 4. cloning 5. IVF 6. transgenic species 7. whole organism breeding 8. recombinant DNA
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artificial insemination
a process of fertilisation in which a man's sperm is placed directly into a woman's vagina e.g. sport horses POSITIVE: cost effective, transport, reduce mating NEGATIVE: one father
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artificial pollination
process of cross pollination in which pollen collected from one plant is manually transferred to the stigma of a second plant POSITIVE: breeder control NEGATIVE: not exact in determining genes
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IVF (in vitro fertilisation)
creating an embryo (joining a sperm and an ovum/ova) outside of a human body in Petri dish POSITIVE: treat fertility issues NEGATIVE: religious issues (acting as God)
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whole organism cloning
Creating a whole new organism using the DNA of an already existing individual
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gene cloning
the production of multiple copies of a single gene
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therapeutic cloning
the use of SCNT to produce human embryos for research purposes
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polymerase chain reaction (PCR)
A technique for amplifying DNA in vitro by incubating with special primers, DNA polymerase molecules, and nucleotides. 1. denaturing 2. annealing 3. extension
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Recombinant DNA technology
technology that combines genes from different sources into a single DNA molecule e.g. transgenic organism
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Transgenic Organism (GMO)
genetically modified organism; any organism that contains genes from other organisms
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three examples of transgenic species
1. knockout mice (stem cells) 2. hepatitis B vaccine (recombinant DNA) 3. pig organs (xenotransplantation)
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Process of Recombinant DNA
1. gene isolated 2. DNA fragments joined by ligase 3. plasmid inserted back into cell copies produced 4. gene inserted into another species
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Recombinant DNA
insulin
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restriction enzymes
Enzyme that cuts DNA at a specific sequence of nucleotides
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Vector
same self replicating DNA fragment e.g. E coli
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gene delivery techniques
inserting desired gene into genome of a species 1. microinjection 2. biolisitcs 3. electroporation 4. transaction by viral vector
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Bt cotton
contains a gene that enables the plant to produce its own pest-killing toxin e.g. caterpillar
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knockout mice
-gene is intentionally deleted (knocked out) - used to study human diseases
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hepititis B vaccine
Recombinant DNA
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how does xenotransplantation work?
organs from transgenic swine have complementary surface markers that inhibit activation of organ
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gene therapy
The insertion of working copies of a gene into the cells of a person with a genetic disorder in an attempt to correct the disorder
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Charles Darwin, Origin of Species
Presented the theory of evolution, which proposed that creation was an ongoing process in which mutation and natural selection constantly give rise to new species. Sparked a long-running religious debate over the issue of creation.
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SNP (single nucleotide polymorphism)
a single base-pair site where variation is found in at least 1% of the population
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Mutation
Permanent change to organism DNA. Spontaneous or from mutagen; physical/chemical agents, permanently change genetic material, thus ↑ mutations - mutagenesis
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Mutagens - Electromagnetic radiation sources
ER is energy type, many sources; sun, galaxies, radioactive elements, microwaves, radios, mobile phones. Ionising ER- High energy; gamma rays, x-rays. Can penetrate cells - strike DNA; break bonds between nucleotides, backbone severed, can reassemble in wrong order. OR near DNA, ionise molecules. Free radicals (main source of mutation. Many cancers) react readily with DNA, damage, prevent transcription, replication, loss of control of cell. Non-ionising ER- Low energy; UV, visible, infrared, microwaves, radio waves. Only UV causes mutations. UVA (↓ en), UVB, UVC. B and C absorbed by ozone. Cannot penetrate deep (↓ en), effects skin. 2 adjacent thymines or cytosines of 1 strand to join, kink, no transcription or replication. Thymine dimers - UV skin cancers.
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Chemical mutagens
Structurally similar- used in DNA instead of normal bases. Deaminating agents- Change bases by taking amino. E.g. Cytosine→uracil from nitrous acid in stomach
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Natural mutagens
Biological- Viruses- If virus integrates into genes, enhances/disrupts normal transcription so mutation. Retrovirus (gen mat; RNA) reverse transcriptase make DNA, incorporated into host genome. Transposons- DNA can multiply of relocate. Insertion into chromosomal DNA disrupts functional elements of genes. Non-biological agents- Radon- Radioactive gas. Releases alpha and beta particles and gamma rays - ionising. Concentrated in sealed spaces. Lung cancer. Metals- Cadmium, mercury - carcinogens. Unknown mechanism. Affect DNA repair or produce free radicals.
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Point mutation
single base pair added, deleted, substituted. Substitution- New codon, can cause; Silent- same amino acid. Nonsense- stop. Missense- different amino acid. Insertion/deletion/frameshift- shifts frame if not 3x, change many amino acids
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Chromosomal mutation - general
Effect large regions of chromosomes or even entire chromosomes not just single genes. Rearrangement Aneuploidy
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Chromosomal mutation - rearrangement
Mistake during crossing over in meiosis Alteration in number/sequence of whole sets of genes on chromosomes; Deletion; 2 breaks, middle lost then re-join Inversion; 2 breaks, middle removes, rotated then re-joined Translocation; Group of genes moves to different chromosome - chromosomes different lengths now. Duplication; Segment lost from one chromosome and added to homologue
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Chromosomal mutation - aneuploidy
Chromosome number not a multiple of the normal haploid number Often causes early miscarriage. In aneuploidy of the sex chromosomes, zygote more likely to survive. monosomy; 2N-1 trisomy; 2N+1 (monosomic/disomic/trisomic) Non-disjunction; pair of homologous chromosomes fail to separate during meiosis I or sister chromatids fail to separate during meiosis II
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Chromosomal mutation - syndromes
Result of a set of symptoms (abnormal dose of gene products) often caused by aneuploidy. Turner Syndrome XO (O means nothing so only one X is present) Normal Female XX Metafemale XXX (appear normal) Normal male XY Jacob syndrome XYY (appear normal, tall, aggressive) Klinefelter syndrome XXY (infertile) Survivable autosomal trisomies; Down syndrome Patau syndrome Edward's syndrome
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Down syndrome
Trisomic 21 Maternal age impacts. Non-disjunction Translocation (parental chromosome 21 fused to another chromosome) Mitotic errors; Failure for pair of 21 chromosomes to separate during mitosis in early embryonic stage; mosaic Palm crease, abnormal ears, short, broad hands, poor muscle tone
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Chromosomal mutation - polyploidy
Organism has 1+ extra sets of ALL chromosomes Humans; triploidy is lethal - miscarriage. Sometimes in animals, often sterile. Common in agricultural plants; larger, more robust, disease resistant Triploid; banana Tetraploid; cotton Hexaploid; kiwi fruit Octaploid; strawberries
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Somatic vs Germline mutations
Germ-line mutations- Mutation occurs in germ-line cells (cells that produce gametes) Often does not affect parent. If fertilisation of gamete created from effected cell occurs, zygote and all daughter cells will contain the mutation - every cell including germ-line cells of offspring will contain the mutation. Inheritable Haemophilia in European royal families Blood fails to clot. Mutation in Queen Victoria's mother, passed in gametes of Queen Victoria - sex-linked, only males affected. Somatic mutations- Occur in body cells, error in DNA replication prior to mitosis. Mutation passes onto daughter cells In presence of carcinogens, mutation may occur in proto-oncogene which controls rate of cell division, this rapid, uncontrolled growth of cells; tumor.
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Coding DNA segments
Exons. Sections of a gene that code for a polypeptide. Mutation in coding DNA may effect structure of polypeptide thus protein production. 2% on human genome is coding DNA.
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Non-coding DNA segments
Do not code for polypeptides. Includes introns, found withing genes. May be regulatory, involved in epigenetic activity; turn genes on/off Some sections code for rRNA (needed for translation) and small nuclear RNA (determines which introns are spliced from mRNA before it leaves nucleus) Mutations may affect gene expression and cell activity. Some have no known function - junk DNA. Long repeating sequences. Mutations often cause no change to cell activity.
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Transposons
Nearly 50% of non-coding DNA in humans is transposons. Segments if DNA which can change locations within a genome. Transposition; "jumping" process Often no phenotypic effect, often do not actively move around genome. Active transposons; may relocate within a chromosome or between chromosomes. Not totally random. If transposon inserted into a functional gene a mutation will disrupt normal functioning of that gene. Can activate adjacent genes - phenotypic variations Major in evolution - active in bursts; many changes to phenotype Barbara McClintock - corn
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Cause of genetic variation
Meiosis IPMAT- Random segregation- random separation of homologous chromosomes from tetrads. Div 2. Independent assortment- Homologous pairs orientate randomly. Segregation independent, random distribution maternal/paternal. Crossing over- Div 1. as tetrads, close contact, chiasma between chromatids, exchange sections Fertilisation- random union of sperm/egg. Now set of chromosomes from both parent, 2 alleles- variation of phenotype based on dom/rec.
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Gene pool
The total collection of genes at one time.
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Microevolution
relative frequencies of alleles in pop change over generations
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Evolutionary forces
Mutation- add new alleles. Sexual reproduction- express recessive alleles. Gene flow- alleles from one pop introduced to other by migration. Genetic drift- chance, unpredictable changes in allele frequency; bottleneck effect; large pop→small; gene pool ↓ founder effect; new pop from few individuals Natural selection- favourable alleles increase, more likely to survive, reproduce. Natural selection has direction - advantageous. Genetic drift doesn’t.
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Biotechnology
Any technological applications that uses plants, animals or microorganisms to make or modify products or processes that benefit humans. PAST ~10,000 years ago. Selective breeding of crops and animals (domestication) to increase growth rate and yield. PRESENT CRISPR-Cas9. Gene editing. Enzyme Cas9 which can cut DNA strands. Guide RNA, directs Cas9 to location in genome. Cell therapy - treat sickle cell disease, hereditary blindness. FUTURE CRISPR; diagnose and cure a range of genetic diseases (neurodegenerative diseases, blood disorders, cancers) also agricultural (prolong shelf-life of perishable foods, increase drought and disease resistance. ABORIGINAL AUSTRALIAN Farming of freshwater yabbies; enclosing them in wet wrappings and carrying them to other billabongs and creeks. Social/ethical; CRISPR; ability to engineer the human genome, use for novelty, reduce genetic diversity. Artificial nature of GMO crops; loss of nature, narrowing gene pool thus less resistant potentially.
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Reproductive technologies - general
Artificially intervene in the processes of asexual and sexual reproduction. Can change populations - increase frequency of desirable characteristics. Selective breeding Artificial insemination Artificial pollination In vitro fertilisation Hybridisation Mutation induction
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Reproductive technologies - Selective breeding
Crossing individuals of the same species with desired characteristics. Slow process, many generations needed, no guarantees. Domestic dogs. Corn bred for larger kernels.
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Reproductive technologies - artificial insemination
Fertility treatment for humans. Animal breeding. Introduction of sperm to female's cervix/uterine cavity for pregnancy through in vivo fertilisation by means other than sexual intercourse. Intracervical or intrauterine. Humans; conceive without a fertile male partner. Within 12 hours from release of ovum - observe menstrual cycle, drugs to stimulate ovulation, may cause multiple births. Animals; Sperm can be diluted to create >100 doses. Frozen semen straws kept in nitrogen tanks. Can be shipped so animals not being moved (reduce disease spread) or kept on producer's farms. Drastically improving genetics of the herd. More hygienic, lots of sterilisation. Decrease offspring diversity
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Reproductive technologies - Artificial pollination
Anthers removed from receptor plant, pollen from another plant introduced to stigma of receptor plant. Self pollination - just shake flower. Hand pollination - natural pollinator not present (wrong location, greenhouse, pest control). Only viable small-scale. Pollen dusting - field crops, orchards. Low fruit yield.
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Reproductive technologies - in vitro fertilisation
Eggs are fertilised outside the mother's body. Zygotes cultured then introduced to female uterus. Implantation and normal pregnancy. Humans; Stimulation phase, FSH injected to develop many mature oocytes, collected under vaginal ultrasound guidance. Fertilised in lab, monitored then 1+ embryos transferred to uterus, others frozen. Preimplantation diagnosis - identify genetic disorders in embryo. Reduce occurrence of genetic diseases so genetic composition of a population Animals; remove embryo from donor female after fertilisation, placed in uterus of surrogate female. Females with desirable characteristics can have more influence on genetic makeup of herd.
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Reproductive technologies - Hybridisation
Hybrid vigour; greater genetic diversity thus more resilient to disease and environmental change. Populations become genetically isolated (geography, mating behaviours, fertility times), become increasingly less similar. Hybridisation is interbreeding individuals from genetically distinct populations to produce a hybrid - combine qualities. Labradoodle; poodle intelligence, Labrador's friendly temperament.
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Reproduction technologies - mutation induction
induced by mutagens. Increase genetic diversity of plants and animals to derive new mutant lines with improved characteristics - create new genes.
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Whole organism cloning
Creating a new organism which is genetically identical to another. Plant cloning; Cuttings Tissue culture Animal cloning; Embryo splitting Somatic cell nuclear transfer
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Plant cloning
Maintain crops with desirable characteristics. Cuttings Branch of parent cut off. Lower leaves removed, placed in damp compost. Plant hormones encourage new roots. Must stay moist and warm. Tissue culture Tiny pieces of parent plant taken placed in Agar growth medium with plant hormones and nutrients. Samples develop into tiny plantlets. Expensive, difficult.
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Animal cloning
Dolly the sheep, 1997. Embryo splitting IVF. Fertilised egg divides into two cells then physically split into two individual embryos. Somatic cell nuclear transfer (SCNT) Insert DNA of an adult cell into an egg cell. Donor cells taken from mature somatic cell of an organism Unfertilised egg's nucleus is removed Two cells fused with electric pulse Cell stimulated to divide with second electric pulse Cell divides, forms embryo Embryo transferred to uterus of a surrogate of the same species.
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Gene cloning
Produce many copies of identical genes. Recombinant DNA technology in vivo Gene of interest removed from original DNA using restrictive enzymes. Inserted into plasmid of a bacteria. Bacteria reproduces, making many copies of itself thus of recombinant plasmid. Isolate gene from bacteria DNA. Polymerase Chain Reaction (PCR) in vitro Amplify a sample of DNA for analysis. Gene of interest isolates and combined with two primers which are complementary to the ends of the gene. Heated to denature (separate) DNA strands, cooled so primers anneal (attach) to ends of single strands. DNA polymerase enzymes and free nucleotides added, formation of new complementary strands (base pairing). Now 2 copies. Repeated loads, exponential.
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Genetic engineering
Deliberate modification of the characteristics of an organism by directly manipulating its genetic material. Recombinant DNA technology Insert desirable genes from one species into the host cells of another species, enabling host organism to produce proteins that it would not make under normal circumstances. rDNA; recombinant DNA - DNA molecules that contain DNA from 2+ species. Creation of recombinant bacterial plasmids; Gene isolated from chromosome of a species using restrictive enzymes (naturally produced by bacteria, isolated and used). Each restriction enzyme cuts a particular sequence of 4-8 bases, the recognition site. Cut produces DNA with single-stranded tails at each end which can bind with DNA strands containing complementary tails - 'sticky ends' as able to connect to complement. Plasmid removed from bacterial cell. Cut with same restrictive enzymes. Isolated gene and plasmid sticky ends match. DNA ligase. Isolated DNA spliced into the plasmid. Hybrid plasmid reinserted into bacteria (use CaCl2 to reduce membrane permeability). Bacteria takes up plasmid - transformation Transformed bacteria divides - passes on recombinant DNA If requirement is protein production, bacteria colony supplied amino acids. If gene copies required, plasmids isolated and cut with restrictive enzymes, giving multiple copies of desired gene.
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Genetic engineering - other methods to insert genes into host cells
Microinjection Direct injection of desired gene into nucleus of cell - tiny glass/metal needle. Typically animal cells. Biolistics Tiny gold or tungsten particles coated with desired gene, shot at tissue using a 'gene gun'. Any cell type, often plants. Electroporation Electrical current applied to cell - temporary pores created in membrane. DNA drawn through pored by difference in electrical charge. All cell types. Transduction Viral vector used to deliver gene to target cells. Insert virus genetic material into host genome - remove disease causing genes, instead desired genes. Animal and bacterial cells.
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Transgenics
Transgenic organism - Contains a gene from another species within genome. Inheritable if in germline cell or fertilised egg. Genetically modified organism - GMO Medical; Transgenic bacteria producing insulin for diabetes treatment. Agriculture; Bt Cotton. Produce toxic crystals on surface to kill insects which consume the crop. Industry; Paper and timber production. GMO E. coli can transform PET into vanillin, typically produced by the vanilla plant. Converting waste to high-value chemicals.
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Biodiversity
Variety of life on Earth. Provides ecosystems with food, fuel production, shelter, air and water purification, soil generation, nutrient cycling. Natural pollination of plants, pest and disease control and stabilises climates. Ensures life's resilience to change on three levels; Genetic diversity Variety of genes within a species. Each species is made up of individuals with differing genotypes. Species diversity A variety of species within a habitat or region. Ecosystem diversity Variety of ecosystems in a given place. Ecosystem; a community of organisms and their physical environment interacting. From an entire forest to a small pond.
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Enviro pigs
Regular pigs cannot digest phytic acid (phosphorus based compound) which is present in plants. This phytic acid is digested by soil bacteria, causing a buildup of phosphorus in the environment. These pigs still need phosphorus so get supplements Bacterial phytase gene is introduced, allowing pigs to secrete the phytase enzyme in their saliva from 7 days old, letting them digest the phytic acid.
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