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biology paper 2 > topic 8 mutations > Flashcards

topic 8 mutations Flashcards

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1
Q

what is a mutation?

A

change to the base sequence of DNA

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2
Q

what is a substituion?

A

one or more bases are swapped for another

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3
Q

what is a deletion?

A

one or more bases are removed

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4
Q

what is an addition?

A

one or more bases are added

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5
Q

what is a duplication?

A

one or more bases are repeated

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6
Q

what is an inversion?

A

sequence of bases is reverse

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7
Q

what is a translocation?

A

sequence of bases is moved from one location in the genome to another

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8
Q

what does the order of DNA bases in a gene determine?

A

the sequence of amino acids in a particular polypeptide

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9
Q

what can a change in the amino acid sequence result in?

A

a change to the tertiary structure

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10
Q

what is a hereditary mutation?

A

mutation occurs in a gamete so is present in the new foetus

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11
Q

what does degenerate mean?

A

some amino acids are coded for by more than one DNA triplet

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12
Q

why do not all mutations affect the order of amino acids?

A

genetic code is degenerate

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13
Q

what is a silent mutation?

A

where a mutation doesn’t cause a change in the amino acid order

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14
Q

what happens in frameshift?

A

mutation caused by a deletion or insertion sequence that shifts the way the sequence is read

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15
Q

what do mutagenic agents do?

A

increase the rate of mutation

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16
Q

what are examples of mutagenic agents?

A

UV radiation
ionising radiation
some chemicals
some viruses

17
Q

how can mutagenic agents increase the rate of mutation?

A

acting as a base
altering bases
changing the structure of DNA

18
Q

what are stem cells?

A

unspecialised cells that can develop into other types of cell and become specialised

19
Q

where are stem cells found?

A

in the embryo and in some adult tissues

20
Q

what are totipotent cells?

A

stem cells that can mature into any type of body cell in an organism

21
Q

when are totipotent stem cells present in mammals?

A

in the first few cell divisions of an embryo

22
Q

what are pluripotent cells?

A

cells that can specialise to become any cell in the body except the placenta

23
Q

what are the two types of stem cells present in adult mammals?

A

multipotent and unipotent

24
Q

what is a multipotent stem cell?

A

cell that can differentiate into a few different types of cell

25
Q

what is a unipotent stem cell?

A

cell that can only differentiate into one type of cell

26
Q

how do stem cells become specialised?

A

stem cells all contain the same genes but in development not all are expressed
mNRA only transcribed from specific genes
the mRNA from these genes is translated into proteins
these modify the cell which leads the cell to become specialised

27
Q

what are cardiomyocytes?

A

heart muscle cells that make up a lot of the tissue in our hearts

28
Q

how can cardiomyocytes be made from unipotent stem cells?

A

thought that they couldn’t replicate by themselves

some scientists now think old/damaged cardiomyocytes can be replaced by new cardiomyocytes from a small supply of unipotent stem cells in the heart

either slow- some never replaced in a lifetime, or fast- every cardiomyocyte replaced several times

29
Q

what is an example of how stem cells could be used?

A

bone marrow has stem cells that can become specialised to form any type of blood cell eg) to treat leukaemia (cancer of blood/bone marrow)

30
Q

what are the benefits of using stem cells in medicine?

A

could save many lives

could improve the quality of life for people

31
Q

what are the three main sources of human stem cells?

A

adult stem cells
embryonic stem cells
induced pluripotent stem cells

32
Q

how are adult stem cells obtained?

A

from the body tissues of an adult
obtained in an operation
can only specialise into a limited range of cells

33
Q

how are embryonic stem cells obtained?

A

from embryos in an early stage of development
created in a laboratory using IVF
once embryos approx 4 to 5 days old, stem cells removed, rest of embryo destroyed
can divide an unlimited number of times into all types of body cells

34
Q

how are induced pluripotent stem cells obtained?

A

created by scientists in the lab
reprogramme specialised adult body cells so they become pluripotent
express a series of transcription factors that are associated with pluripotent cells- cuase the adult body to express genes associated with pluripotency

35
Q

what are the ethical issues for stem cell use?

A

destruction of embryos that could become a foetus

biology paper 2 (23 decks)

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