DNA mutations Flashcards

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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
Q

Spontaneous mutation

A

Naturally occurring mutation

26
Q

Conformation of bases in watson-crick pairing

A

Keto form of bases
A=T
G=C

27
Q

Conformation of bases in non-watson pairing

A

Enol form of bases
C=A
T triple bond G

28
Q

Enol and keto forms are-

A

Tautomeric form of bases

29
Q

Define tautomers

A

Isomers that are readily interconvertible with one other.

30
Q

what is looping of strand?

A

Displacement of a base at the strand or addition of an extra base during replaction causes the formation of a loop.

31
Q

Effect of looping of strand?

A

Can cause mutation by skipping the base in the loop leading to deletion or insertional mutation.

32
Q

Spontaneous chemical changes

A

Depurination
Deamination

33
Q

Depurination-

A

Removal of purine moiety forming an apurinic site.

34
Q

which base has weak bond with the sugar moiety?

A

Purine

35
Q

Deamination is-

A

loss of amine group from the base

36
Q

Deamine cytosine is

A

Uracil

37
Q

Most common form of modified cytosine is-

A

5-methylcytosine

38
Q

Deamination of 5-methylcytosine will give-

A

Thymidine

39
Q

Deamination and depurination can be treated by

A

Base-pair excision repair

40
Q

Ionizing radiation

A

that can excite and knock off an e from it shell.

41
Q

Only non-ionizing radiation that can cause mutation

A

UV rays

42
Q

thymidine dimer is due to

A

UV radiations

43
Q

Effect of ionization on bonding between sugar and phosphate?

A

It breaks the covalent bonds

44
Q

Chemical mutagens

A

Base analogs agent
Base modifying agent
intercalating agent

45
Q

Base analogs of Thymine

A

5-Bromouracil and binds to Adenine

46
Q

Tautomeric form of 5-Bromouracil

A

Behaves like Guanine and binds to cytosine

47
Q

Analog of thymine which is used to treat AIDS patients

A

Azidothymidine

48
Q

Base modifying agent

A

Deaminating agent
Hydroxylating agent
Alkylating agent

49
Q

Deamination agent example

A

Nitrous acid (HNO2)

50
Q

Hydroxylating agent example

A

Hydroxylamine (NH2OH)

51
Q

Alkylating agent example

A

Methyl-methane sulfonate (MMS)

52
Q

Effect of HNO2(Nitrous oxide) on guanine?

A

Become Xanthine which is similar to Guanine and hence no mutation

53
Q

Effect of HNO2 (Nitrous oxide) on cytosine

A

Uracil (CG to AT mutation) formation

54
Q

Effect of HNO2 on Adenine

A

Formation of Hypoxanthine (AT to GC mutation)

55
Q

Which base is specifically affected by hydroxylamine (a hydroxylating agent)

A

Cytosine, adds OH group to it and forms Hydroxylamine-cytosine

56
Q

Hyroxylating agent effect on cytosine-

A

CG to AT mutation

57
Q

Effect of hydroxylating agent can be reversed by treating it with

A

5-BU or Nitrous acids like HNO2

58
Q

most common target of Alkylating agent?

A

6-carbon of guanine forming O-6 methylguanine

59
Q

effect of alkylating agent like MMS on guanine is

A

CG to AT mutation

60
Q

Intercalating agent

A

Add or deletes base pairs and causes frameshift mutation

61
Q

Benzpyrene metabolize to form

A

Benzpyrene diol epoxide which is carcinogenic.