variation Flashcards

Lecture 6 - Mari Knight

1
Q

genetic mutation

A

inherited change in genetic information

its the only means by which new genetic variation is created

caused by :

  • copying errors
  • exposure to mutagens ( radiation or chemicals )
  • virus or virus-like sequences
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2
Q

point mutation

A

a mutation involving a change in a single base pair

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3
Q

chromosomal mutations

A

eliminate, duplicate, or rearrange segments

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4
Q

whole genome events

A

duplication of entire genomes ( e.g ploidy changes )

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5
Q

substitutions ( point mutation )

A

one base is simply substituted for another

two types :

  1. transitions
    purine to purine
    pyrimidine to pyrimidine
  2. transversions ( G-C , C-A , A-T , T-G )
    purine to pyrimidine
    pyrimidine to purine
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6
Q

natural mutation ( substitution )

A

happens in non-coding sequence

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7
Q

synonymous/silent mutation ( substitution )

A

the single mutation results in the same amino acid being coded for

AAA = lysine
AAG = lysine
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8
Q

non-synonymous / coding mutation ( substitution )

A

the single mutation results in a different amino acid being coded for
- change protein primary structure

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9
Q

non-sense mutation ( substitution )

A

mutation causes a amino acid codon to change to a stop codon

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10
Q

deletions ( point mutation )

A

one or more nucleotide (s) are deleted from the DNA sequence

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11
Q

insertions ( point mutation )

A

one or more nucleotide (s) are inserted into the DNA sequence

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12
Q

frameshift mutations

A

A frameshift mutation is a genetic mutation caused by a deletion or insertion in a DNA sequence that shifts the reading frame

( deletions and insertions )

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13
Q

slippage

A

misalignment of DNA strands during the replication of repeated DNA sequences

common in highly repetitive sequences

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14
Q

gene duplications ( larger scale mutations )

A

can be brought about by copying errors or transposable elements

duplicate gene (s)
1. pseudogenes 
  ( not expressed )
2. (multi) gene families 
  ( expressed )
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15
Q

chromosomal rearrangements ( larger scale mutations )

A

a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome

caused when chromosomal alignment and pairing during meiosis malfunctions

major force of evolution

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16
Q

aneuploidy ( larger scale mutations )

A

a change in the number of individual chromosomes

e.g monosomy, trisomy, tetrasomy

17
Q

polyploidy ( larger scale mutations )

A

one or more complete sets of chromosomes is added, wither from the same species ( autopolyploids ) or as a result of hybridisation between two different species ( allopolyploids )

18
Q

chromosomal inversion ( chromosomal rearrangments )

A

a chromosome rearrangement in which a segment of a chromosome is reversed end-to-end

19
Q

chromosomal translocation ( chromosomal rearrangments )

A

occurs when a chromosome breaks and the (typically two) fragmented pieces re-attach to different chromosomes

20
Q

horizontal gene transfer

A

the non-sexual movement of genetic information between genomes

21
Q

‘molecular clock’

A

a figurative term for a technique that uses the mutation rate of biomolecules to deduce the time in prehistory when two or more life forms diverged