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Genetics > Topic 6: Mutations > Flashcards

Topic 6: Mutations Flashcards

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Biology 101 flashcards
1
Q

Point mutation

A

affect single or small number of nucleotides

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2
Q

Substitutions

A

transition or transversion, point mutation

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3
Q

transition

A

purine to purine OR pyrimidine to pyrimidine

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4
Q

transversion

A

purine to pyrimidine OR vis versa

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5
Q

Indel

A

Insertion/deletion mutation (addition, deletion)

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6
Q

frameshift

A

add or delete base pairs (may occur by replication slippage at poly dN)

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7
Q

repeated sequences

A

may result in larger indel mutations
-cross over and loop is deleted
(centromere and telomere)

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8
Q

interstitial

A

in the middle of the chromosome

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9
Q

terminal

A

at the end of the chromosome

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10
Q

intra-genic

A

within the gene, deletion

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11
Q

intergenic

A

between 2 genes

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12
Q

multigenic

A

more than one gene affected (deletion)

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13
Q

duplications

A

extra material for mutation

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14
Q

inversion

A

paracentric or pericentric
-creates difficulty in homologous pairing and therefore unbalanced products

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15
Q

paracentric

A

away from the centromere

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16
Q

pericentric

A

including the centromere

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17
Q

anticipation

A

diseases where you see changes in severity from generation to generation

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18
Q

Fragile X syndrom

A

mental development handicap, sex-linked on X chromosome, more common in males

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19
Q

translocations

A

involves 2 different nonhomologous chromosomes, can be caused by double strand breaks
- reciprocal or unbalanced

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20
Q

aneuploidy

A

change in chromosome number
caused by nondisjunction

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21
Q

nondisjuction

A

impropoer separation of chromosomes during cell division

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22
Q

monosomy

A

absense of one member of a chromosome pair

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23
Q

euploidy

A

normal number of chromosomes

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24
Q

polyploidy

A

multiple chromosome sets, triploid, tetraploid, octoploid (strawberries)

25
Q

mobile genetic elements

A

ie, plasmids
DNA sequences orginating in viruses and integrated into genomes

26
Q

synongmous

A

no change in amino acid (but there IS a change in DNA), silent

27
Q

missense

A

conservative/nonconservative
- one amino acid is substituted for another

28
Q

conservative missense

A

same biochemical properties as substituted amino acid

29
Q

nonconservative missense

A

different biochemical properties as substituted amino acid, more likely to change function of protein

30
Q

nonsense

A

change of amino acid to a stop codon

31
Q

null

A

no effect, silent mutation (of protein)

32
Q

leaky

A

partially functioning (of protein- only some is made or not very functional)

33
Q

neutral

A

change but not a large effect on protein function (location is important)

34
Q

morphological mutation effects

A

affect form (size, shape, number, colour, etc)

35
Q

lethal

A

recessive, de novo (if not inherited, dominant, “novel”)

36
Q

conditional mutation

A

mutant phenotype only expressed in certain conditions (ie. temp)

37
Q

restrictive condition

A

see mutant phenotype

38
Q

permissive condition

A

see wild-type phenotype

39
Q

suppressor

A

second mutation compensates for primary mutation

40
Q

regulatory mutation

A

occurs outside of coding region (ie. promoter and splice sites)

41
Q

loss-of-function

A

hypomorph, null

42
Q

gain-of-function

A

hypermorph

43
Q

haplosufficient

A

only one allele is necessary for phenotype

44
Q

haploinsufficient

A

heterozygotes: one copy of “normal phenotype” is not enough (mutant allele is dominant)

45
Q

ethylmethane sulfonate (EMS)

A

alkylating agent- transitions
adds ethyl group onto G which miss-pairs bases (CG to AT or GC to TA)

46
Q

deamination

A

base alteration, transitions

47
Q

UV light

A

photo products of adjacent pyrimidines (thymidine dimer), transitions
-double stranded DNA breaks also

48
Q

2-aminopurine (2-AP)

A

adenine analog
GC to AT or AT to GC- transitions

49
Q

5-bromouracil (5-BU)

A

thymidine analog
GC to AT or AT to GC- transitions

50
Q

Aflatoxin B1 (AFB1)

A

bulky adducts cause apurinic sites
GC to TA transversions
- become unweilding, base may fall out

51
Q

Acridine orange

A

intercalating agent
frameshifts

52
Q

intercalating agent

A

planar molecules, insert into DNA molecule and makes DNA longer

53
Q

Ethidium bromide

A

intercalating agent, used in lab as a dye for DNA - fluoresces under UV light

54
Q

pseudogene

A

non-functioning copy of a gene, caused by duplication

55
Q

transformation

A

the change of a normal cell into a cell that is immortal (HeLa cells)
can divide forever

56
Q

tumor suppressor genes

A

“brakes”, stop normal cell division
- inactivating mutations cause cancer

57
Q

proto-oncogenes

A

“gas”, promote cell division
- activating mutations cause cancer

58
Q

apoptosis

A

programmed cell death

Genetics (10 decks)

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