DNA Mutations and Repairs Flashcards

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1
Q

Mutation

A

process by which the sequence of base pairs in a DNA molecule is altered

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2
Q

Somatic Mutation

A

mutation in somatic cells, only affects individual

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3
Q

Germ-line mutation

A

mutation in germ line, transmitted by gametes to the next generation

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4
Q

Base pair substitutions

A

one bp replaced by another

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5
Q

Base pair insertions or deletions

A

1+ bp are added or deleted

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6
Q

Transition

A

Bp substitution from purine to purine or one pyrimidine to pyrimidine

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7
Q

Transversion

A

Bp substitution from purine to pyrimidine or vice versa

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8
Q

Missense mutation

A

causes a change in codon and a different amino acid is inserted into the polypeptide

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9
Q

Nonsense mutation

A

change from codon that specifies an amino acid to a stop codon

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10
Q

Neutral mutation

A

change in codon so that a different aa is inserted but the aa substitution doesn’t change the protein function

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11
Q

Silent mutation

A

change in codon but same aa inserted

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12
Q

Frameshift mutation

A

Reading frame changes downstream of the mutation
incorrect aa are added
usually non-functional protein

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13
Q

Repair Mechanisms

A

Enzyme-based repair systems
1.Direct correction: reverses the damage
2. Excision of damaged area and new synthesis of DNA
can read intact info from undamaged strand of DNA

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14
Q

What are the 4 chromosomal mutations?

A
  1. Deletion
  2. Duplication
  3. Inversion
  4. Translocation
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15
Q

Deletion

A

part of the chromosome is missing

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16
Q

Duplication

A

doubling of a segment of the chromosome

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17
Q

Tandem Duplication

A

doubling of a segment of a chromosome that is close together

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18
Q

Displaced Duplication

A

doubling of a segment on a chromosome that is in different locations on the same or different chromosome

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19
Q

Inversion

A

a segment of a chromosome is cut and rotated 180 degrees and reinserted

20
Q

PERIcentric inversion

A

includes centromere

21
Q

PARAcentric

A

centromere not included

22
Q

What is the difference between inversion on a homozygote vs inversion heterozygote?

A

Homozygote wont cause any meiotic problems
heterozygote crossing over can serious genetic effect

23
Q

Translocation

A

change in position of chromosome segments and the genes they contain (involves nonhomologous chromosomes.

24
Q

What are the consequences that can happen because of translocation?

A

Homozygotes- no effect
Heterozygotes- affects meiosis
gametes unbalanced (duplications and deletions)
some gametes inviable
some viable but produce deficient phenotype (down syndrome)

25
Q

Aneuploidy

A

Changes in the # of individual chromosomes (2n-1

26
Q

Aneuploidy

A

Changes in the # of individual chromosomes (2n-1,2n+1,2n+2)

27
Q

Polyploidy

A

Changes the # of chromosome sets (2n,3n,4n)

28
Q

How are Aneuploids formed?

A
  1. deletion including centromere
  2. nondisjunction of 1+ chromosomes during meiosis
29
Q

Nondisjunction

A

failure of sister chromatids to move to opposite poles at anaphase.
one gamete ends up with an extra chromosome and the other missing one

30
Q

Nullisomy

A

loss of one homologous chromosome (2n-2)

31
Q

Monosomy

A

Loss of a single chromosome (2n-1)

32
Q

Trisomy

A

addition of a single chromosome (2n+1)

33
Q

tetrasomy

A

addition of an extra pair of chromosomes (2n+2)

34
Q

Nullisomic

A

2n-2, a pair of chromosomes missing in a single slot

35
Q

Monosomic

A

2n-1, a single chromosome missing from one slot

36
Q

Doubly monosomic

A

2n-1-1, two single chromosomes missing from 2 slots

37
Q

Trisomic

A

2n+1, and extra single chromosome in 1 slot

38
Q

Tetrasomic

A

2n+2, two chromosome pairs added to 1 slot

39
Q

Doubly tertasomic

A

2n+2+2, two chromosome pairs added to 2 slots

40
Q

Monoploids

A

individuals with 1 complete set of chromosomes (n)

41
Q

Diploids

A

Individuals with 2 complete sets of chromosomes (2n)

42
Q

Polyploids

A

Individuals have 3+ complete sets of chromosomes (3n,4n,5n….)

43
Q

Polypoid plants that are even means? odd?

A

Plants with even numbers are fertile
odd means plant will be sterile

44
Q

Difference between sexual and asexual polyploidization?

A

Sexual: Produces gametes that are unreduced (parents 2n = gametes 2n = 4n polyploid zygote = 4n polyploid adult)
Asexual: doubles chromosomes through abortive mitotic division (parents 2n = gametes n = normal zygote 2n = 4n Polyploid adult)

45
Q

Autopolyploid

A

chromosome sets from same species

46
Q

Allopolyploid

A

multiple chromosome sets from different but related species (2n = 4x =48, 2n = 6x = 42…..)