DNA mutations Flashcards

1
Q

Any change in the bp seq of the coding or regulatory region in the DNA is which kind of mutation?

A

Point Mutation

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2
Q

Germline mutation causes?

A

Affects the next generation,
Mutations are passed to the next generation,
Changes in the seq of germ-cells

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3
Q

Mutation rate-

A

occurrence of a specific kind of mutation in a cell per generation.

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4
Q

Mutation frequency-

A

Occurrence of a specific kind of mutation per individual cell or people.

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5
Q

Types of point mutation?

A

Base pair substitution,
Insertion and deletion

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6
Q

types of base pair substitution

A

Transition and Transverse

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7
Q

Effect of Insertion and deletion mutation?

A

Frameshift mutation, affecting the reading frame

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8
Q

Transition mutation-

A

one pair of purine-pyrimidine is replaced by other.

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9
Q

Transverse mutation-

A

pair of purine-pyrimidine is replaced by pair of pyrimidine-purine pair.

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10
Q

Effect of bp substitution on the translation of the strand

A

Missense mutation
Non-sense mutation
Synonymous or silent mutation
Neutral mutation

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11
Q

Missense mutation-

A

Alteration in the sequence of DNA causes the production of faulty proteins

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12
Q

Non-sense mutation

A

alteration causes the addition of a stop codon

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13
Q

Neutral mutation-

A

Change in bp causes the addition of an amino acid that is similar to the original amino acid in terms of properties.

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14
Q

Silent or synonymous mutation-

A

Change in bp sequence still adds the original amino acid

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15
Q

types of point mutation based on the effect on phenotype?

A

Forward mutation
Backward mutation
True reversion
Partial reversion

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16
Q

Forward mutation is-

A

Change from wildtype to mutant phenotype

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17
Q

Reverse mutation

A

mutation in mt causes reversion to the wt or near wt phenotype.

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18
Q

True reversion

A

if reverse mutation restores the original amino acid sequence

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19
Q

Partial reversion

A

when reversion occurs in another amino acid and restores the function either fully or partially.

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20
Q

Suppressor mutation

A

Mutation that causes the masking or diminishing the effect of other mutations by causing mutation in the same gene on another site or on other genes.

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21
Q

Types of suppressor mutation?

A

Intergenic
Intragenic

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22
Q

Intergenic suppressor mutation -

A

suppressor mutation on other genes

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23
Q

Intragenic suppressor mutation

A

Suppressor mutation on the same gene but at different site.

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24
Q

Induced mutation

A

Due to exposure to certain chemical or physical agents.

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25
Spontaneous mutation
Naturally occurring mutation
26
Conformation of bases in watson-crick pairing
Keto form of bases A=T G=C
27
Conformation of bases in non-watson pairing
Enol form of bases C=A T triple bond G
28
Enol and keto forms are-
Tautomeric form of bases
29
Define tautomers
Isomers that are readily interconvertible with one other.
30
what is looping of strand?
Displacement of a base at the strand or addition of an extra base during replaction causes the formation of a loop.
31
Effect of looping of strand?
Can cause mutation by skipping the base in the loop leading to deletion or insertional mutation.
32
Spontaneous chemical changes
Depurination Deamination
33
Depurination-
Removal of purine moiety forming an apurinic site.
34
which base has weak bond with the sugar moiety?
Purine
35
Deamination is-
loss of amine group from the base
36
Deamine cytosine is
Uracil
37
Most common form of modified cytosine is-
5-methylcytosine
38
Deamination of 5-methylcytosine will give-
Thymidine
39
Deamination and depurination can be treated by
Base-pair excision repair
40
Ionizing radiation
that can excite and knock off an e from it shell.
41
Only non-ionizing radiation that can cause mutation
UV rays
42
thymidine dimer is due to
UV radiations
43
Effect of ionization on bonding between sugar and phosphate?
It breaks the covalent bonds
44
Chemical mutagens
Base analogs agent Base modifying agent intercalating agent
45
Base analogs of Thymine
5-Bromouracil and binds to Adenine
46
Tautomeric form of 5-Bromouracil
Behaves like Guanine and binds to cytosine
47
Analog of thymine which is used to treat AIDS patients
Azidothymidine
48
Base modifying agent
Deaminating agent Hydroxylating agent Alkylating agent
49
Deamination agent example
Nitrous acid (HNO2)
50
Hydroxylating agent example
Hydroxylamine (NH2OH)
51
Alkylating agent example
Methyl-methane sulfonate (MMS)
52
Effect of HNO2(Nitrous oxide) on guanine?
Become Xanthine which is similar to Guanine and hence no mutation
53
Effect of HNO2 (Nitrous oxide) on cytosine
Uracil (CG to AT mutation) formation
54
Effect of HNO2 on Adenine
Formation of Hypoxanthine (AT to GC mutation)
55
Which base is specifically affected by hydroxylamine (a hydroxylating agent)
Cytosine, adds OH group to it and forms Hydroxylamine-cytosine
56
Hyroxylating agent effect on cytosine-
CG to AT mutation
57
Effect of hydroxylating agent can be reversed by treating it with
5-BU or Nitrous acids like HNO2
58
most common target of Alkylating agent?
6-carbon of guanine forming O-6 methylguanine
59
effect of alkylating agent like MMS on guanine is
CG to AT mutation
60
Intercalating agent
Add or deletes base pairs and causes frameshift mutation
61
Benzpyrene metabolize to form
Benzpyrene diol epoxide which is carcinogenic.