genetics 1 Flashcards

1
Q

what are purines

A

DNA bases

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2
Q

what are pyrimidines

A

RNA bases

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3
Q

how are sugars attached to purines and pyrimidines

A

C-1 of sugar attached to N-9 of purine and N-1 of pyrimidines

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4
Q

where is the phosphoryl group attached too

A

5’ carbon atom of the sugar

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5
Q

where is the free hydroxyl group attached too

A

3’ carbon of sugar

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6
Q

what is the structure of DNA

A
  • antiparallel polynucleotide strands
  • right handed helix
  • sugar-phosphate backbone outside
  • bases inside
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7
Q

what do genes contain

A

exons - encoding
introns - connecting

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8
Q

where are the major and minor groves

A

major - when helix is away from you
minor - when helix is towards you

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9
Q

how are introns removed

A

splice out by spliceosomes to generate mature messenger RNA

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10
Q

what do single stranded DNA binding proteins do

A

cooperative protein binding straightens region of the chain so DNA polymerase can work

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11
Q

where does cytosine methylation take place

A

on DNA at CG motifs

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12
Q

how does cytosine methylation work

A
  • when DNA replicates only the original strands have methyl groups attached
  • one side not recognised by maintenance methylase
  • methyl group attached to CG motif
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13
Q

what causes damage to DNA

A
  • errors in DNA replication
  • mutagens
  • errors in DNA repair
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14
Q

what is a transition mutation

A

goes from one purine to another or one pyrimidine to another

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15
Q

what is a transverse mutation

A

goes from a purine to a pyrimidine or vice versa

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16
Q

what does deamination do

A

thymine and adenine base pair

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17
Q

what does oxidative damage do to DNA

A
  • adds oh to thymine and guanine
  • blocks DNA replication and transcription
18
Q

what does depurination do to DNA

A

N-glycosidic bonds are cleaved to release a corresponding adenine or guanine

19
Q

what does alkylating agents do to DNA

A

adds methyl groups - blocks DNA replication and transcription

20
Q

what does bulky adducts do to DNA

A

when binding results in abnormal DNA replication

21
Q

what does base analogues do to DNA

A

molecules which are substituted for bases of DNA

22
Q

what does intercalating agents do to DNA

A

intercalated molecule attaches to DNA helix causing base insertions and deletions

23
Q

what does uv light do to DNA

A
  • formation of dimers
  • creates photoproducts
  • generates free radicals
  • strand breaks
  • blocks DNA replication and transcription
24
Q

what does ionising radiation do to DNA

A
  • causes a double strand break
  • various mutations due to strand break repair and oxidative damage
25
what is the components of an RNA nucleotide
- ribose sugar - phosphate group - nitrogenous base
26
what are the 3 types of functional RNA
- transfer RNA - ribosomal RNA - ribozyme
27
how many types of transfer RNA is there
over 50 types
28
what are repeat sequences used for
- genomes contain many repetitive sequences - structural binding sites used for - replication, recombination, repair and transcription
29
types of secondary structure DNA repeats
- hairpin - t-loop - cruciform - reverse fork - G-quartet - G-quadruplex
30
what is DNA denaturation and what are the conditions
double stranded base pairs become separated - 100 degrees or pH >13
31
what is DNA renaturation and what are the conditions
reforming double stranded base pairs - 55 degrees and neutral pH
32
what is DNA hybridisation
double stranded base pairs with other DNA - strict annealing ---> more specific
33
what does FISH stand for
fluorescence in situ hybridisation
34
what does FISH do and what are the steps
- detects nucleotide sequences 1) denature target DNA 2) bind labelled DNA to target 3) label detection
35
what does microarrays do
- quantify gene expression - identify polymorphisms - quantify DNA
36
what is the disadvantages of microarrays
- low reproducibility - inaccurate
37
in DNA chain-terminating fluorescently Sanger sequencing which nucleotides are labeled
Dideoxyribonucleotides
38
how does ionising radiation damage DNA
sugar phsopahte backbone
39
what mutation occurs due to UV light
formation of dimers
40
what causes DNA strand breaks
ionising radiation
41
how many nucleotide bases are in the human genome
3 billion