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Biology A2 > Control of Gene Expression - Mutations and Stem Cells > Flashcards

Control of Gene Expression - Mutations and Stem Cells Flashcards

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1
Q

what is a mutation?

A

any change to 1 or more nucleotide bases or any rearrangement of bases in DNA

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2
Q

what are the types of gene mutation?

A

substitution

deletion

addition

duplication

inversion

translocation

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3
Q

what is a substitution mutation?

A

when a nucleotide is replaced by another of a different base

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4
Q

what are the effects of substitution mutation?

A

stop codon formed - polypeptide production stopped early

codon for different amino acid formed - slightly different structure

formation of different codon but same amino acid - no effect

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5
Q

what is deletion mutation?

A

when a nucleotide is removed from the sequence

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6
Q

what are the effects of deletion mutations?

A

causes a frame shift to the left

most triplets different so polypeptide very different

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7
Q

what is addition mutation?

A

when a nucleotide is inserted into the sequence

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8
Q

what are the effects of addition mutation?

A

frame shift to the right

not as big an effect if 3 are inserted

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9
Q

what is duplication mutation?

A

one or more nucleotides repeated

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10
Q

what are the effects of duplication mutation?

A

causes frame shift to the right

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11
Q

what is inversion of bases mutations?

A

a group of nucleotides becomes seperated from the sequence and rejoins in the same position but inverse order

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12
Q

what are the effects of inversion of bases mutations?

A

only affects one amino acid if 3 are reversed

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13
Q

what is translocation mutation?

A

a group of nucleotides becomes seperated from the sequence and becomes inserted into the DNA of another chromosome

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14
Q

what is the effect of translocation mutations?

A

significant affect on gene expression leading to abnormal phenotype, including development of some cancer

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15
Q

what are the causes of mutations?

A

during DNA mutations

can be increased by mutagenic agents

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16
Q

what is a mutagenic agent?

A

something that increases the risk of mutations

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17
Q

what are two mutagenic agent?

A

high energy ionising radiation

chemicals such as NO2

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18
Q

what are the advantages of mutations?

A

produces genetic diversity necessary for natural selection

19
Q

what are the disadvantages of mutations?

A

can produce an organism less well suited to an environment

if occurs in body cells, leads to disruption of normal cellular activities such as cell division which then leads to cancer

20
Q

how do differentiated cells all differ from each other?

A

they all produce different proteins

21
Q

what are the different ways that stem cells go through mitosis?

A
  1. one daughter cell differentiates, one stays as a stem cell
  2. both daughter cells stay as stem cells
  3. both daughter cells differentiate
22
Q

what are the types of stem cell?

A

embryonic

adult

umbilical cord

placental

totipotent

induced pluripotent

23
Q

where are embryonic stem cells found?

A

blastocyst stage in embryos

24
Q

what are embryonic stem cells used for?

A

grow cultures of stem cells

25
Q

what types of cell can embryonic stem cells differentiate into?

A

most types of cell

26
Q

where are adult stem cells found?

A

tissues around the body, mainly ones that need to regenerate more often

27
Q

what types of cell can adult stem cells differentiate into?

A

only into specific cells

eg blood stem cells can only differentiate into specialized blood cells

28
Q

what are the properties of umbilical cord stem cells?

A

similar to adult stem cells

29
Q

what are the properties of placental stem cells?

A

similar to adult

30
Q

where are totipotent stem cells found?

A

early embryos - zygotes

31
Q

what types of cell can totipotent stem cells differentiate into?

A

any cell type, including pluripotent stem cells

32
Q

what are induced pluripotent stem cells?

A

genetically reprogrammed body cells

33
Q

what are the properties of induced pluripotent stem cells?

A

behaves like embryonic stem cells

34
Q

what is potency?

A

measure of how many types of specialized cell a stem cell can make

35
Q

what is a totipotent cell?

A

a cell that can differentiate into any type of cell

36
Q

what is a pluripotent cell?

A

a stem cell that can differentiate into almost any type of specialized cell

37
Q

which stem cells are pluripotent?

A

induced pluripotent

embryonic

38
Q

what is a multipotent cell?

A

a stem cell that can make multiple types of specialized cell

39
Q

which stem cells are multipotent?

A

placental stem cells

umbilical cord blood stem cells

adult stem cells

40
Q

how can stem cells be obtained?

A

from spare embryos created during IVF

theraputic cloning

from bone marrow

from umbilical cord blood

41
Q

how are stem cells obtained from spare embryos in IVF?

A

at 8 cell stage, cell removed for genetic diagnosis

cell cultured to produce stem clels

42
Q

what is the process of theraputic cloning?

A

nucleus of ovum removed, replaced with nucleus from patient

cell given small electric shock to start it dividing

once blastocyst stage reached, stem cells removed and should be genetically identical to patient

43
Q

what are some uses of stem cells?

A

help with diseases caused by faulty cells (parkinsons, diabetes)

can also potentially grow organs identical to patient for transplant

Biology A2 (15 decks)

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