W4 Mutations and Repair Flashcards

1
Q

what is point mutation

A

change 1 nucleotide

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2
Q

what is the 3rd position of codon called

A

wobble

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3
Q

why is the wobble so easy to change

A

high redundancy

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4
Q

what is a point mutation

A

single nucleotide change

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5
Q

what is the wobble

A

3rd position of codon

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6
Q

why do point mutations occur on the wobble

A

most redundancy

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7
Q

how does chronic myeloid leukaemia occur

A

translocation between chromosome 9 and 22

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8
Q

what is Robertsonian translocation

A

when a majority of chromosome is added to another chromosome

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9
Q

what is chromosomes are required for Robertsonian translocation

A

acrocentric or telocentric chromosomes

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10
Q

what does it mean if someone is aneuploid

A

have an irregular chromosome number

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11
Q

what is polyploidy

A

duplication of single chromosome

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12
Q

what can happen due to polyploidy of chromosomes

A

non disjunction

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13
Q

what chemical causes meiosis errors in plants

A

colchicine

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14
Q

what are the steps to mutation base excision repair

A
  • DNA glycosylase sees DNA damage
  • AP endonuclease removes sugar backbone
  • removed damaged nucleotide is filled with DNA polymerase and ligase
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15
Q

how is mismatched nucleotides detected

A

single strand nicks on DNA strand

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16
Q

how are double stranded breaks fixed

A

non-homologous end joining

17
Q

what is a mutation that doesn’t change the amino acid

A

Synonymous mutation

18
Q

what are the steps of homologous recombination

A
  • nuclease digest 5’ end to create overhangs
  • unpaired single stranded DNA pairs with the complimentary template strand
  • undamaged DNA is used as template
  • the invading strand is then extended by DNA polymerase
  • gaps in new DNA strands are joined by DNA ligase
19
Q

how do bacteria resists viruses

A
  • virus invades cell
  • spacer seq come from viral RNAs
  • spacer embeds into genome
  • spacers are transcribed into CRISPR RNA
  • bind to cas proteins
  • guide RNA and cas protein target complementary seq then case dsDNA break
20
Q

what is lineage tracing

A

track origins of a cell

21
Q

whats the role of the guide RNA

A

find specific sequences of DNA

22
Q

what is GFP

A

green fluorescent protein

23
Q

how does SCAR-TRACE use mutations

A

more mutations shared means more closely related

24
Q

what does cystic fibrosis do

A
  • due to mutation to CFTR gene more mucus is produced
  • since CFTR regulates the movement of water and salt in cells
25
Q

how does cystic fibrosis effect the lungs

A
  • block offs alveoli
  • creates environment for bacteria -> infections
  • can cause inflammatory response