Applied Genetics

  • Created by: annaquinn
  • Created on: 13-06-18 14:19
Define a mutation.
Random changes to the structure or number of chromosones or genes.
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What causes Skin cancer?
Random changes to the gene structure caused by UV light.
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What is Down Syndrome?
It is caused during an error in meiosis when some chromosones fail to segregate and there will be 47 chromosones in each cell.
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What does a karotype show us about a down syndrome person?
They have an extra chromosone 21.
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What causes Haemophilia?
A mutation producing a recessive allele in the blood clotting gene in a X chromosone.
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What is Haemophilia?
A persons inability to properly clot blood.
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Who is more likely to get this disease?
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What causes Cystic Fibrosis?
It is an inherited disease caused by a recessive allele.
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What does this disease do?
It affects the lungs, pancreas, liver and intestines. Thick mucosal secretions causes difficulty breathing and results in frequent lung infections and medication.
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What can increase the chance of a mutation?
Environmental factors
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What reduces the incidence of diseases?
Genetic screeening
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What is one way of doing this?
An amniocentesis test
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What does this test consist of?
Amniotic fluid is withdrawn under ultrasound guidance and the cells can be examined to see if the foetus has a condition
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What are some ethical issues with this test?
1. If the test is positive should the mother abort? 2. 1% risk of miscarriage 3. Should everyone be required to carry out this test?
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What is a genetic profile?
The different alleles and genes someone has
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How does a genetic profile raise more ethical issues?
1. Who should have access to this information? 2. Predict life expectancy or intelligence
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What is genetic engineering?
Taking a piece of DNA, usually a gene, from one organism and adding it to the genetic material of another organism (recipient)
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Before genetic engineering, what was insulin obtained from?
The pancreases of pigs and cattle.
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What is the first stage of making human insulin in a lab?
The plasmid and human DNA are cut with restriction enzymes producing 'sticky ends'.
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Describe the second stage.
The insulin gene and plasmid are sealed with DNA ligase, when the two join=recombiant DNA
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Remember these two things ->
CUTTING= Restriction enzymes GLUING= DNA ligase
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Describe the third stage.
The recombiant DNA is put into the bacterial cell and is left to multiply by mitosis (if asked on exam go into more detail about mitosis!)
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What are the bacteria grown in?
Large fermenters (bioreactors)
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What conditions allow for fast reproduction of bacteria?
1. Warmth (optimum temperature) 2. Nutrients 3. Oxygen (for respiration)
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What now has to happen to this bacteria?
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Name the three stages of downstreaming.
1. EXTRACTION- Seperate insulin from bacteria 2. PURIFIED- by the drug company 3. PACKAGED- for human use
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Other cards in this set

Card 2


What causes Skin cancer?


Random changes to the gene structure caused by UV light.

Card 3


What is Down Syndrome?


Preview of the front of card 3

Card 4


What does a karotype show us about a down syndrome person?


Preview of the front of card 4

Card 5


What causes Haemophilia?


Preview of the front of card 5
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