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Nature VS Nurture > Topic 3: DNA Mutations > Flashcards

Topic 3: DNA Mutations Flashcards

1
Q

What is a mutation?

A

are changes in the DNA sequence of an organism

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2
Q

When do they occur?

A

DNA mutations occur during cell division (mitosis) where abnormal cells are replicated

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3
Q

What can mutation be?

A
  1. Harmful (benign or malignant)
  2. Beneficial (HIV resistance, lactose tolerance)
  3. No effect on organism
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4
Q

What causes mutations?

A
  1. Can come about spontaneously due to errors in DNA replication
  2. Induded by mutagens (environmental factors that cause changes in DNA) such as
    - X-rays/radiation
    - Chemicals, poisons
    - UV Light
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5
Q

What is point mutations

A

a change in a single nucleotide base in a DNA sequence. This can be a substitution of one base for another (eg; A to G). This changes the codon in the mRNA and potentially the amino acid in the protein.

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6
Q

What is insertion?

A

the addition of one or more nucleotide bases into the DNA sequence. Eg; if an extra cytosine is added, it shifts the reading frame and changes all downstream codons, resulting in a completely different a non-functioning protein.

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7
Q

What is deletion?

A

the loss of one or more nucleotide bases in the DNA sequence. They cause frameshift mutations if they are not in multiples of 3, altering the downstream amino acid sequence.

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8
Q

How will this impact protein synthesis?

A
  1. DNA affected (Substitution, Insertion, or deletion)
  2. This results in the mRNA being copied incorrectly. (incorrect nucleotide sequences)
  3. Codes for wrong amino acid(s).
  4. Formation of incorrect protein/Part of polypeptide missing/No functioning protein
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9
Q

What is Huntington’s Disease?

A

a progressive brain disorder that affects the central area of the brain as well as movement, mood, and thinking skills.

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10
Q

What exactly does Huntington’s Disease affect?

A

it affects the HTT gene. Involves a DNA segment of CAG 10-35 times in a row. In people with Huntington’s the segment is repeated more than 120 times.

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11
Q

What is Cystic Fibrosis?

A

a disorder that damages your lungs, digestive tract and other organs in affecting the cells that produce mucus, sweat, and digestive juices

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12
Q

What is affected by Cystic Fibrosis?

A
  • mutation in delta F508. The deletion of one amino acid at position 508 in the CFTR position.
  • channel breaks down shortly after it is made, so never reaches cell membrane to transport chloride ions.
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13
Q

What is Sickle cell anaemia?

A

an inherited blood disorder marked by defective haemoglobin.

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14
Q

What happens in Sickle cell anaemia?

A
  • only one amino acid changes in the haemoglobin
  • the haemoglobin still function but folds differently, changing the shape of the red blood cell, and affecting the way it carries oxygen
  • blocks blood blood, causes tissue damage and pain.
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15
Q

What is Genetic Profiling

A

the sequence of DNA from samples of body tissues or fluids, especially when conducted to predict susceptibility to specific diseases.

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16
Q

Uses of Genetic Profiling

A
  • Paternity
  • Twins
  • Immigration
  • Criminal Justice
17
Q

Advantages of Genetic Profiling

A
  • DNA profiles can be used to determine paternity
  • DNA profiles can be used to identify genetic disorders early
18
Q

Disadvantages of Genetic Profiling

A
  • Store of DNA profiles can be seen as an invasion of privacy
  • Theft of DNA profiles from database is a real threat
19
Q

What is an epigenome?

A

a chemical compound that can tell the genome (the entire set of DNA instructions found in a cell) what to do.

20
Q

What does an epigenome do?

A

it signals to DNA to direct such actions as turning genes on or off and controlling the production of proteins in particular cells.

21
Q

What is epigenetics?

A

the study of environmental changes in gene expression that do not involve changes to
the original DNA sequence - a change in phenotype without a change in genotype — which in turn affects how cells read the genes.

22
Q

What can epigenetics be influenced by?

A
  • age
  • environmental/lifestyle (smoking)
  • disease state.
23
Q

What is DNA Methylation?

A

an epigenetic mechanism that occurs by the addition of a
methyl group to DNA, often
modifying the function of the genes and affecting gene expression.

24
Q

How can our lifestyles change our
epigenome?

A

Smoking, alcohol consumption, diet, physical activity, obesity, and sun exposure can all change our
epigenomes.

25
Q

How are epigenetic changes passed on?

A

it is passed one from one generation to the next. it suggests that events in our lives can affect our children’s development and health, and possibly our grandchildrens

Nature VS Nurture (11 decks)

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