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Biology A level > 4.5 Application of reproduction and genetics > Flashcards

4.5 Application of reproduction and genetics Flashcards

1
Q

What is genetic finger printing?

A

The unique set of bases in a persons genome

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2
Q

What was the goal of the Human Genome project?

A

To provide a complete accurate sequence of DNA base parings
identifying all genes and their location

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3
Q

What were the aims of the human genome project?

A

Understand diseases to improve treatment
Identify mutations
Risk assess treatments
Advance forensics
Research of evolution

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4
Q

What were the main findings of the Human genome project?

A

Fewer genes than predicted
More DNA repeats than expected

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5
Q

What is a stem cell?

A

An undifferentiated cell that can differentiate into different specialised cells

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6
Q

What are the types of stem cells?

A

Pluripotent
Totopotent

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7
Q

What are Pluripotent stem cells?

A

Adult cells that can differentiate into most types of cells

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8
Q

What are totopotent stem cells?

A

Embryonic cells that can differentiate into all types of cells

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9
Q

What are some ethical concerns with stem cells?

A

Embryos are alive
Possible unknown side effects
Expensive and unreliable

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10
Q

What technique did the Human Genome project use?

A

Sanger sequencing

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11
Q

What was the goal of the 100K Genome project?

A

To study genome variation in the UK

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12
Q

What technique did the 100k Genome project use?

A

Next generation sequencing (NGS)

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13
Q

What are the benefits of NGS over Sanger sequencing?

A

NGS is faster
NGS uses less resources- cheaper
Sanger can only process small samples

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14
Q

What other organisms have had their genome sequenced? Why?

A

Chimpanzees- Study evolutionary relationships and conservation
Mosquito- Study cause of insecticide resistance and to control population
Plasmodium sp- develop more effective drugs for malaria

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15
Q

What are the advantages of genetic sequencing?

A

Genetic screening for mutations
Early diagnosis
Embryonic screening for genetic conditions
Genetic counselling before conception

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16
Q

What are STRs?

A

Short tandem repeats
regions between intron and the number of times that region repeats

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17
Q

What is PCR used for?

A

Make copies of a DNA sequence

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18
Q

What are the steps in PCR?

A
  1. Heat DNA to 95* to separate stands
  2. Cool to 50-60* so primers bind to stands (annealing)
  3. Heat to 70* to allow DNA Polymerase to extend the sample
    4.Cycle repeated
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19
Q

What is Gel electrophoresis used for?

A

The comparison of DNA samples

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20
Q

What are the steps to Gel Electrophoresis?

A
  1. DNA sample loaded into well at end of gel + Voltage is applied across the gel
  2. DNA attracted to +ve electrode due to phosphate groups negative charge
  3. Smaller fragments move more easily through gel pores so travel further
21
Q

What are the applications of DNA fingerprinting?

A

Paternity testing
Forensics
classification

22
Q

What are the pros of DNA fingerprinting?

A

Non invasive
Can us small samples
Exonerate false accusations

23
Q

What are the cons of DNA fingerprinting?

A

Privacy violation
Storage issues
Mishandling of data could lead to wrongful convictions

23
Q

What are the cons of DNA fingerprinting?

A

Privacy violation
Storage issues
Mishandling of data could lead to wrongful convictions

24
Q

What is southern blotting?

A

A technique used to remove DNA fragments after electrophoresis

25
Q

What are the steps of Southern blotting?

A

Nylon membrane placed in gel to ‘pick up’ fragments
DNA probes that are luminescent complementary bind to STR by bases
Film sensitive to x-rays from luminescent probes are placed on the film overnight
Film is exposed to autoradiographs

26
Q

What is genetic engineering?

A

The transfer of a gene from one organism into the DNA of another

27
Q

How is DNA cut directly out of the chain?

A

Restriction endonuclease hydrolyses phosphodiester links in the backbone
Cuts before and after the gene, removing it from the chromosome

28
Q

What are the issues with cutting DNA directly?

A

Genome is massive and will cut many places
The base sequence must be known
Will contain non-coding introns that must be edited before contact with bacteria

29
Q

What is the other enzyme that can be used to obtain a Gene sample?

A

Reverse transcriptase

30
Q

How is reverse transcriptase used?

A

Reverse transcriptase can create cDNA from an mRNA strand of a desired cell
cDNA treated with DNA polymerase to make it double stranded

31
Q

How is reverse transcriptase used?

A

Reverse transcriptase can create cDNA from an mRNA strand of a desired cell
cDNA treated with DNA polymerase to make it double stranded

32
Q

What are the benefits of using reverse transcriptase?

A

mRNA is abundant in cells and is already spliced from its introns

33
Q

How is recombinant DNA fromed?

A

Cutting the DNA leaves unpaired bases on the ends (sticky ends)
The same restriction endonuclease is used to cut plasmids
DNA ligase can join plasmids and DNA by thier sticky ends

34
Q

How is the plasmid inserted into a host cell?

A

The vector (plasmid) is taken up in a solution by the bacteria

35
Q

What are the concerns about genetic engineering using recombinant DNA?

A

Bacteria may pass on antibiotic resistant gene onto pathogenic bacteria
DNA fragments could transfer or activate Oncogenes

36
Q

What is a GMO?

A

Genetically modified crops
genetically engineering crops for human consumption either to convey disease resistance or a desired characteristic

37
Q

What are the advantages of GMOs?

A

Can help meet rising demand for food
Superior keeping qualities

38
Q

What are the concerns regarding GMOs?

A

Cross pollination- large herbicide resistance
Damage biodiversity
risk to health as food

39
Q

What is gene therapy?

A

inserting functional DNA sequences into cells to
counteract the effect of a defective gene

40
Q

What is Germline Therepy?

A

Genes are replaced in germline cells so changes can be inherited

41
Q

What is somatic cell therapy?

A

Alevites symptoms by replacing defective cells
these will wear and be replaced by defective cells however

42
Q

What is Duchenne Muscular dystrophy?

A

A recessive sex linked disorder
The dystrophin gene is mutated and does not produce dystrophin causing muscle wastage

43
Q

What drug is used to treat DMD?

A

Drisapersen

44
Q

How does drisapersen work?

A

A sequence of bases complementary to the exon with the deletion mutation act as a patch
the molecular patch allows the exon to be skipped in translation and a more functional protein is formed

45
Q

Where can stem cells be found?

A

Umbilical cord
Bone marrow

46
Q

What are some uses of stem cells?

A

Tissue engineering
treatments for disease
study of growth

47
Q

What is tissue engineering?

A

The study of the growth of new connective tissues or organs from cells and a collagenous scaffold

48
Q

What is a scaffold in tissue engineering?

A

An artificial 3D printed structure to support the growth of new tissue

Biology A level (15 decks)

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