mutations and dna repair Flashcards

0
Q

spontaneous Mutation

A

random event, not cause

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1
Q

two steps to a mutation occuring

A
  1. damage to the DNA

2. DNA repair mechanisms fail to correct it before next cell division

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2
Q

Induced Mutation

A

Chemical or Radiation Caused event

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3
Q

Somatic Mutation

A

Mutation not inherited through reproduction

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4
Q

Germ Line Mutation

A

Inherited through reproduction

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5
Q

Morphological Mutations

A

Physically observable mutations

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6
Q

Behavioral Mutations

A

Common in animals

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7
Q

Regulatory mutation

A

Operon mutation based on how much is produced, not what is produced. (cancer)

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8
Q

Nutritional or Biochemical mutation

A

Operon mutation based on what is being produced

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9
Q

Lethal Mutations

A

organism does not survive to adulthood

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10
Q

conditional or temperature sensitive mutations

A

only expressed under certain conditions

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11
Q

Bacterial or fungi Mutation Detection

A

Growth one minimal medium ( minimal nutrients) vs. complete medium (Beadle and Tatum

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12
Q

Attached- X procedure? Explain.

A

In drosphilia and other species, XX is female and X is male; Y is irrelevant. Two X’s may become attached, if an attached x and one x are inherited they will die. If two Y’s are inherited they will die. Attached x and y, or x and y will live. All males that survive have mutation, and all females are fine.

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13
Q

Plant Mutation Detection

A

Visual; biochemical analysis; Can culture the cells of the plant to observe them.

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14
Q

Human Mutation detections

A

Pedigree analysis; culturing of cells; electrophoresis/sequencing

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15
Q

transitions

A

Purine to purine ( alters structure of helix) Easily detected and repaired

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16
Q

Tranversion

A

Purine to pyramiding ( won’t change dimension of helix) less likely to be repaired

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17
Q

Silent/ synonymous Mutation

A

Base/point mutations. Will not alter polypeptide sequence

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18
Q

Missense/ Nonsynonomous Mutation

A

Base or point mutation. Will alter amino acids

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19
Q

Nonsence mutation

A

Base/point mutation. Introduce a termination codon

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20
Q

List types of Base substitution/ point mutations.

A
  1. Transition
  2. Transversion
  3. silent/synonymous
  4. Missense
  5. non-sense
21
Q

Base Substitution

A

base added, alters a single codon

22
Q

base insertion or deletion

A

alters reading frame and may change many codons

23
Q

spontaneous Mutation Rates

A

Due to replication error, tautomeric shifts, apurination, or deamination; not induced by external agent

24
Mutation rate? spontaneous
very low rate. Varies among species. varies among genes of same species.
25
Tautomeric Shift
Protons shift from one atom to another. changes the position of hydrogen bonds that can form, will not pair as stably.
26
what is the result of tautomeric shifts?
bases pair with bases that aren't their normal base pairs. A and C. T and G.
27
Apurination
Spontaneous lesions, breaking of glycosidic linkage between deoxyribose and a purine. The AP site
28
What is the result of Apurination?
stalled replication, or base substitution
29
Deamination?
Loss of amino group from base structure.
30
Where does Deamination occur?
A or C | Amino to keto shift
31
What does C form when deaminated?
urycil
32
What does A form when Deaminated?
hypoxanthine pairs with C
33
Base analogs
Substitute for normal nucleotides (induced mutation)
34
Alkylating Agents
Alkylates bases, causing transition (changes how things pair)
35
Acridine Dyes
intercalating agents, resulting in frameshift mutations
36
UV Radiation
formation of pyrimidine dimers, Inhibits replication
37
Ionizing radiation- Xrays- gamma rays- cosmic rays
causes chromosome breakage, causes point mutations
76
The Ames test
Tests to see if there is chemical mutagenicity
77
Photoreactivation Repair
DNA repair in prokaryotes | requires exposure to blue light photoreactivation enzyme (PRE) cleave thymine dimer
78
Excision repair
Prokaryia or eukaryianuclease detects and remores incorrect base; polymerase 1(prokaryia) inserts correct nucleotide, ligase seals the gap
79
2 types of Excision repair
Base ER | Nucleotide ER
80
proofreading
DNA repair mechanism, Polymerase I proofreads shortly after replication
81
Mismatch repair
Recognition of methylated template strand | repair enzymes MutH, MutL, MutS, MutU
82
Post-replication Repair
if a lesion is skipped at replication, it is repaired by recombination with the undamaged complementary strand
83
SOS repair
Several mutations detected, many proteins involved, allows DNA polymerase to replicate across lesions
84
double strand break repair
Mammals. break in both strands
85
homologous recombinational repair
mammals- crossing over homologous chromosomes, break in two strands.
86
site directed mutagenesis
Introducing specific mutations
87
site directed mutagenesis steps
1. determine gene sequence 2. isolate one strand 3. add synthetic oligonucleotide 4. strand hybridize 5. semiconservative replication occurs result- mutant protein