Mutations & Gene Expression Flashcards

1
Q

What is a mutation?

A

a change to the base sequence of DNA

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2
Q

What is a mutagenic agent?

A

a substance which increase the rate of mutations

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3
Q

What are the 6 types of mutations?

A
  1. substitution
  2. deletion
  3. addition
  4. duplication
  5. inversion
  6. translocation
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4
Q

What is a substitution mutation?

A

one or more bases swapped for another

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5
Q

What is a deletion mutation?

A

one or more bases are removed
causes a frameshift

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6
Q

What is an addition mutation?

A

-one or more bases are added
-frameshift to the right

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7
Q

What is a duplication mutation?

A

-one or more bases duplicated

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8
Q

What in an inversion mutation?

A

a group of bases gets separated from the sequence and re-joins in the same position but inverted

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9
Q

What is translocation of bases?

A

a group of bases gets separated from the DNA sequence & attaches to a different chromosome

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10
Q

What type of mutation often has the biggest effect?

A

translocation

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11
Q

What are the two reasons why a mutation might not cause a change in the amino acid sequence?

A

-degenerate nature of code
-a mutation could occur in the intron

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12
Q

What are the 4 types of stem cells?

A
  1. Totipotent
  2. Pluripotent
  3. Multipotent
  4. Unipotent
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13
Q

What are totipotent stem cells?

A

they can differentiate into any type of cell

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14
Q

What are pluripotent stem cells?
And where are they found?

A

they can differentiate into any type of cell apart from placental cells
found in embryos

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15
Q

What are multipotent stem cells?
And are they embryonic/adult?

A

can differentiate into a limited type of cell
-found in adults

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16
Q

What are unipotent stem cells?

A

can differentiate into one type of cell

17
Q

What are the 4 sources of stem cells?

A

-embryonic
-umbilical cord
-placental
-adult

18
Q

How do stem cells become specialised?

A

-when replicating, they only transcribe and translate certain parts of their DNA
-only certain genes are expressed
-proteins produced
-determine cell structure / processes

19
Q

What are cardiomyocytes?

A

heart muscle cells

20
Q

What does iPS stand for?

A

induced pluripotent cells

21
Q

What is iPS?

A

when specialised adult body cells (unipotent) are made to express certain transcription factors
Which makes the cells pluripotent

22
Q

What could stem cells be used for in medicine?

A

-spinal cord injuries (nerve cells)
-heart disease (heart tissue)
-organ transplants

23
Q

What is the rate of transcription controlled by?

A

transcription factors

24
Q

What type of biological molecules are transcription factors?

A

proteins

25
Q

What are the 2 types of transcription factor?

A

activator
repressor

26
Q

What is the promoter region?

A

-a short section of DNA
-at the start of a gene
-that the RNA polymerase binds to

27
Q

What is the enzyme responsible for synthesising mRNA from DNA ?

A

RNA polymerase

28
Q

How do activators work?

A

-moves from cytoplasm to nucleus
-binds to the promoter region
-RNA polymerase binds to activator, binding it to DNA strand
-gene is transcribed

29
Q

How do repressors work?

A

-moves from cytoplasm to nucleus
-binds to promoter region
-prevent RNA polymerase from binding
-stopping transcription

30
Q

What type of hormone is oestrogen?

A

steroid hormone

31
Q

What does oestrogen have to form to act as a TF?

A

forms an oestrogen oestrogen receptor complex

32
Q

What happens when an OORC is formed?

A

-the complex changes shape
-becomes an active TF (activator)
-can now enter the nucleus

33
Q

What is the definition of epigenetics?

A

Heritable changes in gene function without changes to base sequence of DNA
(Changes may due to lifestyle, stress, diet)