Mutations Flashcards

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1
Q

mutations always change ________

A

genotype of organism

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2
Q

genotype

A

complement of genes organism possesses

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3
Q

phenotype

A

physical expression of genes

appearance, chemical and structural characteristics of individuals

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4
Q

effect of mutation on organism depends on

A

where it occurs and how much the protein changes

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5
Q

sickle cell anemia

A

1 DNA base change in gene for hemoglobin changes 1 amino acid
glutamate (GLU) is replaced by valine (VAL)

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6
Q

neutral mutations

A

do not affect survival

may occur in unexpressed regions of DNA

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7
Q

beneficial mutations

A

rare

antibiotics resistance in bacteria

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8
Q

2 forms of mutations

A
  1. spontaneous

2. induced

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9
Q

spontaneous mutations

A

occur naturally during replication or form as misalignment deletions

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10
Q

induced mutations

A

caused by mutagens

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11
Q

3 types of mutagens

A
  1. chemical
  2. physical
  3. biological
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12
Q

chemical mutagens

A

chemicals mimic DNA bases or alter normal bases
AZT- mimics thymine
acyclovir- mimics guanine
aminopurine- mimics adenine
bromouracil- mimics thymine; binds guanine not adenine
nitrous acid- alters adenine to bind cytosine not thymine

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13
Q

physical mutagens

A

uv light and ionizing radiation

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14
Q

uv light

A

non ionizing, non penetrating rays

cause thymine dimers in DNA of skin from sunburn

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15
Q

thymine dimers

A

adjacent thymines bind laterally

may cause melanoma

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16
Q

xeroderma pigmentosum

A

genetic disease

tumors in response to uv

17
Q

ionizing radiation

A

penetrates barriers

damages DNA

18
Q

biological mutagens

A

transposons
“jumping genes”
control own movement- move around genome
cause mutations when inserted into other genes

19
Q

5 mutation patterns

A
  1. base substitution
  2. frameshift
  3. inversions
  4. duplications
  5. translocation
20
Q

base substitution

A
point mutation
1 DNA base changed to another
a. missense
b. silent
c. nonsense
21
Q

missense mutation

A

changes codon at 1st or 2nd DNA base
alters codon meaning to change amino acid
alters amino acid sequence of protein- may change protein function
sickle cell anemia

22
Q

silent mutation

A

changes 3rd base of codon
usually codes for same amino acid
usually no effect on protein function

23
Q

nonsense mutation

A

base substitution forms stop codon

protein synthesis stops before correct termination point

24
Q

frameshift

A

insertions and deletions

shift codon reading frame to change amino acid sequence

25
Q

inversions

A

reverse DNA base sequence of gene

26
Q

duplications

A

inserts additional copies of DNA sequence into genome

27
Q

translocation

A

DNA moves from 1 chromosome to another

Down’s syndrome