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Alevel BiO ;) > gene mutation > Flashcards

gene mutation Flashcards

1
Q

what is a unipotent stem cell

A

can only differentiate into one other cell

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2
Q

what is a totipotent stem cell

A

can differentiate into any adult stem cell

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3
Q

where are totipotent stem cells found

A

in the early stages of embryo development

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4
Q

where are unipotent stem cells found

A

mature mammals

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5
Q

what is a multipotent stem cell

A

can differentiate into most cells but not all, blood cells are common

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6
Q

where are multipotent cells found

A

mature mammals

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7
Q

what are pluripotent stem cells found

A

early stages of embryo

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8
Q

what is a pluripotent stem cell

A

can differentiate into any tissue in the body

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9
Q

what is a mutagenic agent

A

a mutagen is a physical or chemical agent that changes the genetic material this will increase the frequency of mutations

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10
Q

what is an oncogene

A

a gene that has the potential to cause cancer

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11
Q

what are induced multipotent cells

A

skin or blood cells that have been reprogrammed back to their embryonic-like pluripotent state therefore can differentiate into any tissue cell

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12
Q

what are three tissue layers called

A

ectoderm
endoderm
mesoderm

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13
Q

what happens in an insertion mutation

A

one or more bases are added

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14
Q

what happens in a deletion mutation

A

one or more bases are removed

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15
Q

what happens in a substitution mutation

A

where one or more bases are swapped for another

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16
Q

what happens in an inversion mutation

A

a sequence of bases is reversed

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17
Q

what happens in a duplication mutation

A

one or more of the bases are repeated

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18
Q

what is the effect of a duplication mutation

A

can cause a frame shift but can also an increase in repeating subunits and causes genetic disease

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19
Q

what is the efefct of a deletion mutation

A

can cause frame shift

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20
Q

what is the effect of an insertion mutation

A

can cause frame shift

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21
Q

what is the effect of a substitution mutation

A

can result in no change as amino acid sequence could stay the same

22
Q

what is the effect of an inversion mutation

A

can result in no chnage because amino acid sequence could stay the same

23
Q

what is interference RNA

A

a biological process to which RNA molecules inhibit gene expression or translation by neutralising traget mRNA molecules

24
Q

what is degenerate code

A

some amino acids are coded for by than more than one codon

25
Q

what can be the cause of mutations

A
  • high energy ionising radiation ( short wave X-rays and ultra violet rays)
  • chemicals such as nitrogen dioxide may directly alter the structure of DNA . or benzopyrene a constituent of tobacco smoke is a powerful mutagen that inactivates a tumour supressor gene
26
Q

what is an ips produced from

A

unipotent stem cells

27
Q

what is an ips

A

unipotent stem cells that are genetically modified in the laboratory to make them acquire characteristics of an embryonic stem cell which are similar to pluripotent stem cells

28
Q

how does an ips actually form

A

transcriptional factors and inducing genes to turn genes on that were otherwise turned off

29
Q

what is a function of ips that is pretty cool

A

they are capable of self renewal — this means that they could potentially divide to a limitess supply

30
Q

what is an ethical advantage of ips

A

in drug trials embryonic cells are not required just use ips instead!!!

31
Q

what is a transcriptional factor

A

specific molecules that move from the cytoplasm to the nucleus to cause a gene to be switched on

32
Q

how does a transcriptional factor work

A
  • each transcriptional factor has a site that binds to specific bases sequence in the DNA. this binding causes transcription to occur
33
Q

what happens when a gene is not being expressed

A

the site on the transcriptional factor that binds to the DNA is not active.

ALL the transcriptional factors fault

34
Q

how does oestrogen act as transcriptional factor

A

oestrogen is lipid soluble so can diffuse through the phospholipid bilayer easily

  • oestrogen binds to a receptor
    -oestrogen causes the transcriptional factor to change shape.
  • transcriptional factor binds with DNA and begins the process of transcription begins
35
Q

what is epigenetics

A

that environmental factors can cause heritable changes in gene function without changing the base sequence of DNA

36
Q

what is the epigenome

A

a second layer of chemical tags wrapped around the chromosomes ( this is DNA wrapped around histones)

37
Q

what is the function of the epigenome

A

determines the structure of the DNA-histone complex

38
Q

what is epigenetic silencing

A

where the epigenome will keep inactive genes tightly packed and ensure that the inactive code will not be read

39
Q

what can the epigenome also do

A

it can unwrap active genes so that they can be more easily transcribed

40
Q

how does epigenome differ from DNA

A

DNA is fixed whereas the epigenome is flexible

41
Q

why can the epigenome be described as flexible

A

because the chemical tags respond to their environment - factors like diet and stress can cause the wrapping and unwrapping function to be adjusted and so switch genes on and off

42
Q

what can the epigenome change

A
  • acetylation of histones leading to activation or inhibition of a gene
  • methylation of DNA by attracting enzymes that can add or remove methyl groups
43
Q

what is RNAi

A

small lengths of non-coding RNA that stops mRNA that has already been transcribed to being translated

44
Q

does RNAi regulate transcription or translation

A

translation

45
Q

is RNAi double or single stranded

A

double - which is weird

46
Q

what are the two types of RNAi

A

siRNA - only in animals
miRNA - in plants and animals

47
Q

how does siRNA and miRNA work in plants xxxxx

A

double stranded siRna associates with proteins in the cytoplasm and unwinds
- one of the siRNA strands is chosen and the other degrades
- single strand of siRNA binds to the target mRNA ( as it is complementary to the base sequence in a section)
- the proteins associated with the siRNA cut the mRNA into small fragments so it can no longer be translated
- the mRNA fragments then move into a processing body which degrades them

48
Q

what can siRNAs and miRNAs be used for

A

gene silencing - treats genetic disorders ( faulty genes are eliminated)

49
Q

describe how miRNAs work in animals

A

miRNAs are not fully complementary to the target mRNA so they are often less specific and can target more than one mRNA molecule. miRNA has to go through processing stages in the cytoplasm to be two single strands.
once miRNA is bound to mRNA it will block translation by preventing the ribosome from binding. the mRNA is then moved to a processing body where it can be stored to either be translated at another time or to be degraded

50
Q

what is the enzyme used to degrade siRNAs and miRNAs

A

dsRNA

Alevel BiO ;) (35 decks)

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