mutation Flashcards

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1
Q

what is a mutagen

A

something that causes a permanent change to DNA

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2
Q

three types of mutations

A
  • electromagnetic radiation
  • chemicals
  • naturally occuring
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3
Q

what is ectromagnetic radiation

A

electromagnetic radiation involves 3 dangerous ionising radiation that can produce free radicals ehich cause breakage in DNA.

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4
Q

what are the 3 top dangerous ionising radiation?

A
  1. UV, gamma
  2. x-rays
  3. gamma rays
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5
Q

how does elctromagnetic radiation caus mutations

A

direct:
ionising radiation frees electrons from DNA molecules. The High energy electrons can damage DNA.

indirect:
When electrons pass through cells, they interact with water and release free radicals. Radicals are highly reactive and will break strands of DNA leading to deletions, partial chromosome loss, cross-linking of DNA with itself etc. This interferes with protein synthesis.

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6
Q

example of mutation caused my electromagnetic radiation

A

skin cancer

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7
Q

chemicals

A

chemicals that will cause mutations if there is a high frequency or exposure over long periods of time

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8
Q

naturally occuring

A

exposure to microbes, plnat and animlas that can cause mutations

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9
Q

types of mutations

A
  • point mutations
  • chromosomal mutations
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10
Q

what is point mutation?

A

chnage in only 1 nucleotides

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11
Q

two types of point mutations

A
  1. substitution
  2. frameshift
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12
Q

what is substitution point mutation?

A

1 nucleotide is swapped out for another

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13
Q

what is frame shift point mutation?

A

mutation causing a dowmstream shift in codon reading sequence
- insertion
- deletion

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14
Q

what are the effects from point mutations

A
  1. silent:
    no chnage to amino acid
  2. missense:
    change in amino acid creates non-functional protein
  3. nonsense:
    change in nuceotife codes for stop codon causing non-functional protein
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15
Q

chromosomal mutation

A

A mutation that affects the structure or number of chromosomes in a cell which causes genetic disorders

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16
Q

what are the four tpes of chromosomal mutation?

A
  1. deletion
  2. inversion
  3. translocation
  4. duplication
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17
Q

deletion

A

section of chromosome is removed

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18
Q

inversion

A

section of chromosome is removed, rotated 180 and reunserted

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19
Q

translocation

A

section of 1 chromosome is moved to a non-homologous chromosome (pair of chromosomes that are structues the same and carries the same gene

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20
Q

duplication

A

sectio of chromosome is doubles an dinserted increasing the number of genes

21
Q

what are the two effects of chomosomal mutations

A
  1. aneuploidy
  2. polyploidy
22
Q

what is aneuplody?

A

having a full extra chromosomes or missing a full chromosomes

23
Q

what is polyploidy?

A
  • more than normal set of chromosomes
24
Q

what is somatic mutations?

A

mutations that occur in the body cells rather than in reproductive cells.

25
Q

what is the location of somatic mutations?

A

somatic cells which are body cells - lungs, skin, liver

26
Q

what is the cause of somatic mutations?

A

mutation occurs during interphase before mitosis

27
Q

is somatic mutations heredity?

A

no

28
Q

what are the effects of somatic mutations?

A

individual = development of a tumour over time

29
Q

Examples of somatic mutations

A

Skin cancer
Brain tumour
Liver cancer

30
Q

What is germ line mutations

A

Mutation that occur in the reproductive cells

31
Q

Is germ line mutations heritary?

A

Yes, it is passed on to offspring, affecting every cell in the offsprings body

32
Q

Example of germline mutations

A

Cystic fibrosis
Down syndrome
Breast cancer

33
Q

what is the impact of germ line mutations?

A

it can lead to inherited genetic consitions and may affect future generations

34
Q

coding mutations

A

mutations which occur in the coding dna which usually affect the type of amino acids in the polypeptide chain, resulting in an abnormal protein end-product

35
Q

what does mutations in a coding dna cause?

A

abnormal protein end product

36
Q

example of a disease caused by the mutation in coding dna

A

sickle cell anaemia

37
Q

example of a disease caused by the mutation in coding dna

A

sickle cell anaemia

38
Q

what is non-coding DNA?

A

non-coding mutations are dna’s that do not code for proteins

39
Q

what are the three types of non-coding DNA?

A
  1. dna used for replicating e.g tRNA
  2. regulatory sequence
  3. repetitive dna
40
Q

what is regulatory sequence DNA?

A

dna that controles the amount of protein produces

41
Q

example of a disease that is caused from a mutation in a non-coding DNA?

A

Lung cancer
- mutations is caused in Regulatory sequence dna causing the exessive protein produce resulting in tumours

42
Q

what is a gene pool?

A

Gene pool is the total collection of alleles for all genes in a population

43
Q

Do gene pools chnage overtime?

A

yes

44
Q

What are the reasoning of why gene pools change?

A
  1. gene flow
  2. gene drift
  3. mutations
  4. selection pressures
45
Q

what is gene flow?

A

movement of allele population

46
Q

what is gene drift?

A

Radom events occurring within the population
E.g deaths and births

47
Q

What is selection pressures?

A

Any external factors which effects an organisms ability to survive
E.g temperature and food

48
Q

What are the causes of genetic variation?

A
  1. Crossing over
  2. Independent assortment
  3. Random segregation
49
Q

What are the three types of effect of mutations?

A
  1. Neutral effect
  2. Harmful effect
  3. Beneficial effect