Application of reproduction and genetics Flashcards

(35 cards)

1
Q

What is the human genome project?

A

Aimed to sequence the whole human genome
Improved knowledge and understanding of genetic disorders and improve diagnosis and treatment
Used sanger sequencing (sequenced sections)

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2
Q

Specific human genome project aims

A

Identify all genes in the human genome and which chromosome each is on
Determine the sequence of 3 billion base pairs
Improve data analysis tools

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3
Q

Findings of Human genome project

A

20,500 genes
More repeated segments of DNA
Less than 7% of protein families were specific to vertebrates

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4
Q

What was the 100K Genome project?

A

Studied the genomes of 100K people to study genetic variation in the UK
Uses NGS which is faster

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5
Q

100K genome project aims

A

Create an ethical, transparent programme based on consent
Set up NHS genomic service
Develop a UK genomics industry

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6
Q

Ethical issues with genome sequencing

A

Ownership of information (e.g. insurance companies should not profit of info)
Screening embryos can lead to concerns over choosing certain alleles for a ‘designer baby’
Storage of genomic information

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7
Q

Advantages of genome sequences

A

Can tell if DNA is mutated via comparison
May be possible to screen for Alzheimers/cancer
Embryos made in IVF can be screened for genetic diseases (cystic fibrosis, hungtintons, thalassaemia)
Genetic counselling for people with screened genetic problems

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8
Q

How has the genome sequencing of mosquitoes been helpful?

A

Can study the cause of insecticide resistance
Develop new chemicals that can reduce the population
Prevents the spread of malaria
Gene can be written into the genome to stop spread

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9
Q

How has genome sequencing helped control the spread of Plasmodium parasite?

A

Sequencing the genome allows scientists to develop more effective drugs to treat the disease
Can combat drug resistance

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10
Q

Stages of DNA fingerprinting (basic)

A

1) Isolate unique DNA
2) Amplify DNA w/ PCR
3) Separate DNA by gel electrophoresis

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11
Q

How is DNA isolated in DNA fingerprinting?

A

STRs= short tandem repeats (repeated nucleotides), in introns, are inherited
Number of repeats is unique to individual
More repeats= longer fragments
STRs are cut out using

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12
Q

PCR process

A

1)STRs replicate and are heated to 95 degress which breaks H binds and separates strands
2)Cooled to 50-60 degrees to anneal primers to complementary DNA
3)Heated to 70 degrees to allow Taq polymerase to bind to the primers
4)Taq polymerase adds nucleotides in 3’—>5’ direction, then maintained at 70 degrees

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13
Q

Gel electrophoresis process

A

1) Amplified STR fragments are loaded into wells, different wells for each individual as well as a reference sample (DNA of known lengths)
2) Electrical current is applied and DNA fragments move towards the positive electrode due to negative phosphate group
3) Smaller fragments move easily through the gel
4) Electrofluorescent/ radioactive marker used to make DNA visible

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14
Q

Uses of DNA fingerprinting

A

Paternity testing
Identification of siblings/ checking for identical twins
Identification of relatives (immigration)
Forensic use to rule out suspects
Identify closely related organism (classification)

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15
Q

Advantages of DNA fingerprinting

A

Non-invasive
Small samples
Exonerate the falsely accused

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16
Q

Disadvantages of DNA fingerprinting

A

Civil liberty issues/privacy
Safe storage issues
Mishandling can lead to wrongful convictions

17
Q

Genetic engineering process

A

1) Isolate the gene (2 methods)
A= Use restriction endonucleases to produce sticky ends due to unpaired bases
B= Use reverse transcriptase on mRNA of gene of interest to produce a single strand of complementary DNA, apply DNA Polymerase and free nucleotides–> double strand, Use restriction endonucleases–> double strand w/ sticky ends, no introns
2) Cut plasmid (w/ antibiotic resistant gene)out of cell w/ same restriction enzymes used for the gene for complementary sticky ends, DNA ligase is used to anneal the plasmid and the gene= recombinant plasmid
3) Place in a solution w/ bacteria and some will take up a plasmid
4) Serial dilution and grow on agar containing antibiotics, colonies contains on transgenic bacteria as these are antibiotic resistant

18
Q

Transgenic meaning

A

An organism w/ a gene from another cell/ organism

19
Q

What are marker genes?

A

Help identify transgenic bacteria
X-Gal, white=plasmid
Blue= no plasmid

20
Q

Issues with only using restriction endonucleases in isolating the gene

A

Need knowledge of gene and bases around
Cutting gene into fragments
Will include introns that need removing

21
Q

Issues with genetically modifying crops

A

Pest resistance
Antibiotic resistant marker genes
Adverse health affects
Economic concerns

22
Q

Advantages of GM crops

A

High yield
Pesticide reduction
Improved food
Pharming
Disease resistant

23
Q

Issues w/ GE bacteria

A

Fast, high yield, produces exact replica, could spread antibiotic resistance to pathogenic bacteria, DNA fragments could transfer/ activate oncogenes

24
Q

What is gene therapy?

A

Inserting functional allele to counteract a non-functional allele

25
Germ-line therapy
Genes are replaced in germline cells so that changes can be inherited
26
Somatic cell therapy
Alleviates symptoms but is not permanent and will not be inherited, Repeated treatment is needed
27
Disadvantages of gene therapy
Difficult to get gene into genome Not permanent Could turn on protooncogenes
28
Duchenne muscular dystrophy
x linked recessive disorder Somatic treatment Weak muscles Caused by mutation in dystrophin gene (79 exons) DNA strands end at mutated gene and are translated= non functional protein
29
Treatment for DMD
Drisapersen contains complementary bases to the exon with the deletion of the mutation Mutated exon is skipped during translation and a shorter but more functional protein is formed
30
Uses of genomics
More accurate diagnosis, prediction of effect of drugs, improved design of drugs, improved/new treatments for disease
31
What is tissue engineering?
Cultivation of cells on a synthetic material to form tissue that can be used to repair organs
32
Types of cells used in tissue engineering
Autologous= same individual Allogenic= donor of same species Xenogenic= another species Syngenic/isogenic= genetically identical organism
33
Advantages of using stem cells to replace damaged tissues/organs
Can become any type of cell (embryonic) ESC are easy to isolate ESC grow easily in culture Will make organs more available for transplants
34
Disadvantages of using stem cells
Techniques are still underdevelopment Long term studies not yet been possible Expensive Destruction of 'potential life'
35