10.3 Flashcards

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1
Q

what are the two types of mutations (in terms of transmission?

A

somatic mutations - not transmitted
germ-line mutations - may be transmitted to ~50% of offspring

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2
Q

what are the classifications of point mutations based on aa’s?

A

silent/synonymous - no change
missense/nonsynonymous - 1 aa changes
nonsense - stop codon

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3
Q

what are the classifications of point mutations based on affect on sequence?

A

indels cause frameshifts that alter reading frames (missense or nonsense) - except when they occur in groups of 3
indels outside of reading frames have no effect

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4
Q

what are the classifications of mutations based on functional phenotype?

A

loss-of-function - recessive inheritence
gene-of-function (new/wrong gene product) - dominant inheritence
neutral

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5
Q

what are transitions vs transversions?

A

transitions - purine/pyrimimide swap
transversions - purine/pyrimimide stay the same

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6
Q

do transition or transversion mutations happen more often?

A

transitions

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7
Q

what are forward vs reverse mutations?

A

forward alters wild phenotype
reverse changes mutant back to wild phenotype

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8
Q

what are suppressor mutations?

A

mutation that suppresses a previous mutation

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9
Q

what are the two types of suppressor mutations?

A

intragenic (same gene)
intergenic (diff gene)

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10
Q

how do mutations happen?

A

spontaneously or induced

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11
Q

what are the three types of spontaneous mutations?

A

tautomeric shifts (of bases) during DNA rep
DNA strand-slippage during DNA rep
misalingment of homo chromosomes during crossing over (recomp) at meiosis I

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12
Q

what are tautomeric shifts?

A

small chemical changes in bases that change which base they can bind to

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13
Q

what is DNA slippage?

A

strands slip into small loops which results in adding/leaving out a nucleotide

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14
Q

what are mutagens?

A

agents that cause mutations:
radiation or chemical mutagens

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15
Q

what is ionizing radiation?

A

dislodges electrons to cause free radicals/ions that alter base structure and break phosphodiester bonds

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16
Q

what is ultraviolet radiation?

A

weaker ionizing radiation
comes from sun
causes pyrimidine dimers that blocks DNA rep

17
Q

how do we repair damaged DNA from UV?

A

protein recognizes mismatches and unwinds, excises nucleotides, fills in correct nucleotides

18
Q

what is xeroderma pigmentosum?

A

autosomal recessive genetic disorder where cells cannot repair mutations caused by UV light

19
Q

what are base analogs?

A

chemical mutagen that look like bases but cause incorrect pairing and point mutations

20
Q

what are base-modifying agents?

A

chemical mutagens that change bases to pair incorrectly and cause point mutations

21
Q

what are intercalating agents?

A

chemical mutagen that distort normal base stacking and cause insertion/deletion of a base pair

22
Q

what is the ames test?

A

method to mutagens by comparing growth reversions of salmonella on different mediums (mutagens will cause growth)

23
Q

what does rat liver enzyme do in the ames test?

A

mimic chemical modification of potential mutagens in human body (could make chemical more or less mutagenic)