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Biology Unit 4 > 4.5. Application of Reproduction and Genetics > Flashcards

4.5. Application of Reproduction and Genetics Flashcards

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1
Q

What is the Human Genome Project??

A

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

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2
Q

DNA Sequencing??

A

identifying the base sequence of a DNA fragment

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3
Q

Sanger sequencing??

A

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

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4
Q

Outline the potential benefits of the Human Genome Project??

A

-allows for the 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 diff genes

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5
Q

100K Genome Project??

A

a uk government project that aims to study variation in the human genome amongst 100,000 uk citizens using next generation sequencers (NGS)

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6
Q

Describe Next Generation Sequencing (NGS)??

A

a faster cheaper & more accessible method of sequencing that can sequence an entire genome in a few hrs

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7
Q

Describe genetic counselling??

A

-service tht provides info & advice to ppl affected by or at risk of genetic diseases
-helps individuals & families to make informed decisions

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8
Q

What is genetic screening??

A

-testing individuals for certain faulty alleles
-used to detect disorders such as cystic fibrosis, Huntington’s disease & thalassemia

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9
Q

Outline potential disadvantages of genetic screening??

A

-screening for conditions such as cancer, Alzheimers disease only indicates an increased risk, may cause stress and anxiety
-discrimination from employers and insurance companies, misuse of info
-limited funds & time
-screening embryos could lead to ‘designer babies’

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10
Q

Some examples of organisms other than humans whose genomes have been sequenced??

A

-chimpanzees and other primates
- Anopheles gambiae mosquito
- plasmodium parasite

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11
Q

how has sequencing the genome of mosquito Anopheles gambiae been useful to humans??

A
  • Anopheles has developed insecticide resistance
    -sequencing has enabled the development of chemicals that make Anopheles susceptible to insecticides
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12
Q

advantage of sequencing the genome of Plasmodium to humans??

A

-Plasmodium sp. has developed multi-drug resistance
-enables development of more effective drugs

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13
Q

genetic fingerprinting??state some applications of genetic fingerprinting??

A

-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

exons??

A

region of DNA that code for an amino acid sequence

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15
Q

introns??

A

non-coding sequences of DNA

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16
Q

STRs??

A

Short Tandem Repeats
sections of repeated nucleotides within introns that produce variation in individuals

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17
Q

techniques used to prod a genetic fingerprint??

A

PCR & gel electrophoresis

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18
Q

PCR??

A

Polymerase Chain Rctn
a 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 the DNA fragment to be amplified, primers thats are complementary to the start of the fragment, free nucleotides to match up to exposed bases & DNA Polymerase to create the new DNA

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20
Q

DNA Polymerase??

A

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

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21
Q

summarise the process of amplifying DNA fragments using PCR??

A
  1. heated 95C break Hydrogen Bonds bet DNA strands
  2. cooled 55C allow primers to bind - annealing
  3. Heated 70C activates DNA Polymerase allows free nucleotides to join
  4. New DNA acts as a template for the next cycle
22
Q

gel electrophoresis??

A

a technique that seperates nucleic acid fragments or proteins by size using electric current

23
Q

how does gel electrophoresis work??

A

-DNA fragments of varying lengths places at one end of agarose gel
- electric current applied DNA fragments move towards +ve electrode end
- Shorter fragments travel furhter, pattern of bands created is unique to every individual

24
Q

genetic engineering/ modification??

A

the modification of the genome of an organism by insertion of a desired gene from another organism enables formation of organisms with beneficial characteristics

25
Q

recombinant DNA??

A

a combination of DNA from 2 diff organisms

26
Q

summarise the process of using restriction enzymes to prod DNA fragments??

A

-gene identified using gene probe
-restriction endonucleases cut DNA at specific sequences producing sticky ends

27
Q

summarise process of using reverse transcriptase to prod DNA fragmetns??

A

-mRNA complementary to teh target gene used as a template
- reverse transcriptase syntheises cDNA
-mixed w/ free nucleotides which match up to their base pairs DNA polymerase joins nucleotides forming second strand

28
Q

outline advantages of using reverse transcriptase to prod cDNA??

A

-don’t have to locate the gene
-gene not cut into non-functional fragments by restriction enzymes
-introns not presetn in cDNA

29
Q

summarise the process of inserting a DNA fragment into a vector??

A

-plasmid(circular DNA from bacteris) used as a vector
- plasmid cut using same restriction enzymes as DNA so that sticky ends are complementary
-DNA ligase joins the fragment & plasmid together

30
Q

descride how anitbiotic resistance genes are used in identification of recombinant bacteria??

A

antibiotic resistant genes can be inserted into plasmids at same time as DNA fragments, the transformed cells then places on a plate w/antibiotic, only cells that successfully took up the vector will grow

31
Q

give an application for genetic modification of bacterial cells??

A

human gene for insulin prod can be inserted into a vector, so that the bacterial cell will prod insulin, useful in medicine e.g. treatment of diabetes

32
Q

disadvantages of using recombinant DNA to make human products??

A

-identifying the req gene may be diff
-some eukaryotic genes can’t be expressed i prokaryotes
-anitbiotic-resistance genes could be transferred to pathogenic bacteria
-expensive

33
Q

GM Organisms??

A

Organisms that have had their genome altered

34
Q

benefits of GM crop prod??

A

improves nutritional value of foods
longer shelf life of prods
greater crop yeilds
reduces need for pesticides
reduces need for land clearing

35
Q

risks of GM crop prod??

A

-reduction in biodiversity
-unknown effects on health
-cross-pollination could result in herbicide-resistant weeds
-may increase costs for farmers

36
Q

gene therapy??

A

a therapeutic technique in which a faulty allele is repalced w/ a functional allele in order to treat or prevent disease

37
Q

2 types of gene therapy??

A

somatic cell therapy
germ line therapy

38
Q

diff bet somatic cell therapy and germ line therapy??

A

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

39
Q

vector??

A

a carrier used to transfer a gene from one organisms= to another e.g. plasmid/ virus

40
Q

what id duchenne muscular dystrophy?? (DMD)

A
  • x-linked recessive condition
    -characterised by muscle degeneration & weakness
41
Q

cause of DMD??

A

DMD is caused by one ormore mutaitons in the dystrophin gene that prevents the prod of dystrophin

42
Q

outline how DMD can be treated using gene therapy??

A
  1. healthy gene inserted into vector(e.g virus)
    2.vector inserted into muscle tissue
  2. virus delivers gene to muscle cells
  3. new gene incorporated into DNA of cell
  4. transcription and translation of gene prod normal dystrophin protein
  5. symptoms of DMD alleviated
43
Q

what is drisapersen??

A

an experimental drug that aims to treat DMD by exon skipping

44
Q

explain how drisapersen works??

A

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

45
Q

discuss ethical issues surrounding use of gene therapy

A

-health implications may prod an immune response activation of oncogenes etc, altering genotype of an unborn child, could lead to healthcare inequalities, expensive

46
Q

stem cells??

A

cells that are unspecialised & retain ability to differentiate into a range of cell types

47
Q

tissue engineering??

A

an extension of gene therapy that aims to replace repair or improve biological fucntion by replacing organs and tissues

48
Q

main advantage od using stem cells??

A

rapid prod of genetically identical cells & organisms

49
Q

outline the 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 effects

50
Q

ethical issues related to the use of stem cells from embryos??

A

-embryos used to provide stem cells are destroyed seen as unethical and a waste of potential human life
-could lead to the ‘farming’ of embryos fro stem cells
-may lead to the reproductive cloning of humans

Biology Unit 4 (6 decks)

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