Topic 8 - Control of gene expression Flashcards

1
Q

define gene mutation

A

a change in the sequence of bases in a DNA molecule that may result in an altered polypeptide

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2
Q

how can mutations occur

A

spontaneously and continously

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3
Q

when do mutations usually occur

A

interphase - DNA replication

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4
Q

why do most mutations have little or no effect

A

due to degeneracy of genetic code

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5
Q

how can mutations arise from

A

nucleotide changes: insertion, deletion, substitution
structural changes: inversion, duplication, translocation

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6
Q

give 2 examples of mutagenic agents

A
  • high energy ionising radiation such as alpha/beta/gamma radiation
  • chemicals such as NO2 from tobacco smoke
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7
Q

what three forms can substitution mutations take

A

silent, nonsense, missense

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8
Q

define silent mutation

A

no change to the amino acid sequence due to the degeneracy of the genetic code

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9
Q

define missense mutations

A

alters a single amino acid potentially affecting protein function

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10
Q

give an example of missense mutation

A

sickle cell anemia

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11
Q

define nonsense mutations

A

creates a premature stop codon, producing an incomplete non-functional protein

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12
Q

give an example of nonsense mutation

A

cystic fibrosis

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13
Q

when does inversion mutations usually occur

A

during crossing over in meiosis

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14
Q

what happens in inversion mutations

A

DNA of a single gene is cut into two places. the cut portion is inverted 180 then rejoined to the same place

results in a large section of gene is backwards and multiple amino acids are affected as they are being read incorrectly

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15
Q

what usually results in inversion mutations

A

non-functional protein, or in some cases a completely new protein

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16
Q

what do duplication mutations result in

A

a gene/section being copied on the same chromosome, original gene remains intact so mutation is not harmful

17
Q

how is duplication mutation important in source of evolutionary change

A

the duplicate can mutate over time, developing new functions

18
Q

what happens in translocation

A

a gene is cut into two places and the section of gene cut off attaches to a seperate gene

19
Q

what is a stem cell

A

an undifferentiated cell of an organism that is capable of self-renewal and differentiation into specialised cells

20
Q

what are the 4 types of stem cells

A
  • totipotent
  • pluripotent
  • multipotent
  • unipotent
21
Q

what types of cells can totipotent stem cells form

A

all cell types including extra-embryonicc tissues

22
Q

where can totipotent stem cells be found

A

in the zygote and the first few divisions of the early embryo

23
Q

what are pluripotent stem cells

A

they are embryonic stem cells that can differentiate into any cell type found in an embryo but are not able to differentiate into extra embryonic cells

24
Q

what can pluripotent stem cells be used for

A

they can be used in treating human disorders

25
Q

what can pluripotent cells do

A

they can divide in unlimited numbers and keep replacing themselves

26
Q

give 2 examples of multipotent stem cells

A
  • haematopoietic stem cells [produce all types of blood cells]
  • neural stem cells [form neurons and glial cells]
27
Q

describe multipotent stem cells

A

they are found in mature mammals and they can divide and differentiate into a limited number of cell types

28
Q

describe unipotent cells

A

they are found in mature mammals and can divide and differentiate into just one cell type

29
Q

how can stem cells be used in the treatment of human

A

transplated into patients to divide in unlimted numbers then differentiate into required healthy cells

30
Q

explain how induced pluripotent stem cells [iPS] cells are produced

A
  • obtain adult somatic cells from patient
  • add specific protein transcription factors associated with pluripotency to cells so they express genes associated with pluripotency to cells = transcription factors attach to promoter regions of DNA, stimulating or inhibiting transcription
  • culture cells to allow them to divide by mitosis
31
Q
A