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biology > 2.7 - application of reproduction + genetics > Flashcards

2.7 - application of reproduction + genetics Flashcards

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1
Q

what’s the human genome project

A

international research project involving thousands of scientists which used sanger sequencing to successfully map the entire human genome

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2
Q

what’s DNA sequencing

A

identifying the base sequence of a DNA fragment

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3
Q

what’s sanger sequencing

A

method of DNA sequencing that only sequences relatively short sections of DNA at a time
takes a long time

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4
Q

potential benefits of the human genome project

A
  • allows for development of targeted, personalised medical treatments + greater accuracy of diagnosis
  • increased opportunities for screening genetic conditions + early detection of disease
  • enables study of incidences of mutation in different genes
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5
Q

what’s the 100K genome project

A

UK government project that aims to study variation in the human genome amongst 100 000 UK citizens
uses next generation sequencing (NGS)

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6
Q

describe NGS

A

faster, cheaper + more accessible method of sequencing that can sequence entire genomes in a few hours

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7
Q

describe genetic counselling

A
  • service that provides information + advice to people affected by/at risk of genetic diseases
  • helps individuals + families make informed decisions
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8
Q

what’s genetic screening

A
  • testing individuals for certain faulty alleles
  • used to detect disorder such as cystic fibrosis, huntingtons + thalassemia
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9
Q

potential disadvantages of genetic screening

A
  • may cause unnecessary stress + anxiety
  • what happens to test results, discrimination from employers + insurance, misuse of info
  • risk of false positives/negatives
  • screening embryos can lead to designer babies
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10
Q

examples of organisms other than humans whose genomes have been sequenced

A
  • chimpanzees + other primates
  • mosquito
  • plasmodium parasite
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11
Q

how has sequencing the genome of the mosquito been useful to humans

A
  • they developed insecticide resistance
  • sequencing enabled development of chemicals making mosquitos susceptible to insecticides
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12
Q

advantages of sequencing the genome of the plasmodium sp to humans

A
  • they developed multi-drug resistance
  • enables development of more effective drugs
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13
Q

what’s genetic fingerprinting

A
  • technique used to genetically identify an organism
  • applications in forensics, screening for hereditary diseases, paternity testing, selection for clinical trials
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14
Q

what are exons

A

region of DNA that comes for an amino acid sequence

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15
Q

what are introns

A

non-coding sequences of DNA

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16
Q

what are STRs

A
  • short tandem repeats
  • sections of repeated nucleotides within introns that produce variation in individuals
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17
Q

why techniques can be used to produce a genetic fingerprint

A
  • PCR
  • gel electrophoresis
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18
Q

what’s PCR

A
  • polymerase chain reaction
  • in vitro technique used to rapidly amplify fragments of DNA
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19
Q

describe the reaction mixture in the first stage of PCR

A

contains DNA fragment to be amplified, primers complementary to start of fragment, free nucleotides to match up to exposed bases, + taq polymerase to create new DNA

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20
Q

what’s taq DNA polymerase

A

thermally stable enzyme that synthesises double stranded molecule of DNA from single template strand using complementary nucleotides

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21
Q

summarise the process of amplifying DNA fragments using PCR

A
  1. heated (90-95C) to break H bonds between DNA strands
  2. cooled (55-60C) to allow primers to bind - annealing
  3. heated (70C) to activate taq DNA polymerase + allow free nucleotides to join
  4. new DNA acts as template for next cycle
22
Q

what’s gel electrophoresis

A

technique that separates nucleic acid fragments/proteins by size using electric current

23
Q

how does gel electrophoresis work

A

-1. DNA fragments of varying lengths placed at one end of slab of agarose gel
2. electric current applied, DNA fragments more towards positive end of gel
- shorter fragments travel further
- pattern of bands created unique to every indiviudal

24
Q

what’s genetic engineering

A

modification of genome of organism by insertion of desired gene from another organism
enables formation of organisms w/ beneficial characteristics

25
Q

what’s recombinant DNA

A

combo of DNA from 2 diff organsims

26
Q

summarise the process of using restriction enzymes to produce DNA fragments

A
  • gene identified using gene probe
  • restriction endonucleases cut DNA at specific palindromic sequences producing sticky ends
27
Q

summarise the process of using reverse transciptase to produce DNA fragments

A
  • mRNA complementary to target gene used as template
  • reverse transcriptase synthesises cDNA (complementary)
  • mixed w/ free nucleotides which match up to base pairs
  • DNA polymerase joins nucleotides forming second strand
28
Q

advantages of using reverse transcriptase to produce cDNA

A
  • don’t have to locate gene
  • gene not cut into non-functional fragments by restriction enzymes
  • no introns in cDNA
  • doesn’t require post-transcriptional processing to produce functional mRNA
29
Q

process of inserting DNA fragments into a vector

A
  1. plasmid used as vector
  2. plasmid cut using same restriction enzymes as DNA, so sticky ends are complementary
  3. DNA ligaments joins fragment + plasmid together
30
Q

describe how antibiotic-resistance genes used in identification of recombinant DNA

A

antibiotic resistance genes can be inserted into plasmids at same time as DNA fragments
transformed cells placed on plate w/ antibiotics
only cells that successfully took up vector will grow

31
Q

give an application for genetic modification of bacterial cells

A

human gene from insulin production can be inserted into vector, so bacterial cell will produce insulin
useful in medicine
eg: treatment of diabetes

32
Q

disadvantages of using recombinant DNA to make human products

A
  • identifying required gene may be difficult
  • some eukaryotic genes can’t be expressed in prokaryotes
  • antibiotic resistance genes could be transferred to pathogenic bacteria
  • expensive
33
Q

what are GM organisms

A

organisms that have had genome latered

34
Q

benefits of GM crop production

A
  • improves nutritional value of foods
  • longer shelf life of products
  • greater crop yields + reduces crop losses
  • reduces need for pesticides
  • reduces need for land clearing
  • can produce human medicine + vaccines
35
Q

risks of GM crop production

A
  • reduction in biodiversity
  • unknown effects on health
  • cross pollination could result in herbicide-resistant weeds
  • may increase costs for farmers
  • insect eating predators may be damaged by toxins in plant
  • transferred gene may spread to wild population + cause problems
36
Q

what’s gene therapy

A

therapeutic technique in which faulty allele replaced w/ functional allele in order to treat/prevent disease

37
Q

name the 2 types of gene therapy

A
  • somatic cell therapy
  • germ line therapy
38
Q

differences between somatic cell therapy + germ line therapy

A

somatic - allele introduced to target cells only, short term, must be repeated
germ line - allele introduced to embryonic cells so its present in all resultant cells, permanent, passed onto offspring

39
Q

what’s a vector

A

carrier used to transfer gene form one organism to another, e.g: plasmid or virus

40
Q

what is DMD

A
  • X-linked recessive condition
  • characterised by muscle degeneration + weakness
41
Q

what’s the cause of DMD

A

caused by one or more mutations in dystrophin gene that prevents production of dystrophin

42
Q

how can DMD be treated using gene therapy

A
  1. healthy gene inserted into vector
  2. vector inserted into muscle tissue
  3. virus delivers gene to muscle cells
  4. new gene incorporated into DNA of cell
  5. transcription + translation of gene produces normal dystrophin protein
  6. symptoms of DMD alleviated
43
Q

what’s drisapersen

A

experimental drug aiming to treat DMD by exon skipping

44
Q

explain how drisapersen works

A

introduces ‘molecular patch’ over mutated exon, enabling gene to be read
shorter, more functional type of dystrophin synthesised

45
Q

ethical issues surrounding use of gene therapy

A
  • health implications, may produce immune response, activation of oncogenes, etc
  • is it right alter genotype of unborn child
  • could lead to healthcare inequalities
  • expensive
46
Q

what are stem cells

A

cells unspecialised + retain ability to differentiate into range of cell types

47
Q

what’s tissue engineering

A

extension of gene therapy that aims to replace, repair or improve biological function by replacing organs + tissues

48
Q

main advantage of using stem cells

A

rapid production of genetically identical cells + organisms

49
Q

disadvantages of using stem cells

A
  • expensive + unreliable in mammals
  • in plants, disease + pathogens can cause issues
  • inadvertent selection of disadvantageous alleles, unknown long term effetcs
50
Q

ethical issues related to use of stem cells from embryos

A
  • embryos used to provide stem cells destroyed
  • could lead to ‘farming’ of embryos for stem cells
  • may lead to reproductive cloning of humans
51
Q

ethical issues related to use of stem cells from embryos

A
  • embryos used to provide stem cells destroyed
  • could lead to ‘farming’ of embryos for stem cells
  • may lead to reproductive cloning of humans

biology (24 decks)

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