DNA mutations Flashcards

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1
Q

What are some general causes of mutations

A

-Environmental factors
-Spontaneous mutations
-errors in replication

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2
Q

What is the most common type of mutation

A

spontaneous mutations

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3
Q

Why do RNA viruses have such a high mutation probability

A

-Delicacy of RNA backbones
-Lack of proofreading capabilities

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4
Q

Early development mutations have a ______ _______

A

larger spread

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5
Q

___________ mutations mean every embryo will carry the mutation

A

Germline

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6
Q

What did Joshua and Esther Lederberg study?

A

-Proved antibiotic resistance was random
-Bacteria grown with no penicilin exposure developed penicilin resistance

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7
Q

Mismatches make a ____ in the DNA which is recognized by protiens

A

kink

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8
Q

How does mismatch repair work

A

-nuclease cleaves a point some distance away from the mismatch
-The nucleotides are removed from the cut strand
-DNA polymerase and DNA ligase close gap

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9
Q

How does base excision repair work

A

-Uracil signals need for repair
-DNA uracil glycolase cleaves uracil leaving a bare backbone
-The lack of nitrogenous base is detected by AP endonuclease and cleaves the backbone
-DNA polymerase and DNA ligase add a new nucleotide to the bare spot

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10
Q

How does nucleotide excision repair work

A

-Similar to mismatch
_more than one mismatch is corrected
-Damaged bases signal to enzymes to cleave backbone on either side of the regions

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11
Q

What is another name for single nucleotide pair substitutions

A

single nucleotide polymorphisms (SNPs)

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12
Q

Which mutations do not change amino acids

A

Synonymous/Silent

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13
Q

Which mutations change the amino acid

A

Nonsynonymous/Missense

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14
Q

What kind of mutation causes sickle cell anemia

A

Missense mutation in the beta globin subunits of hemoglobin, translating valine instead of glutamate

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15
Q

What are nonsense mutations

A

-Code for premature stop codon
-Shortens polypeptide and can result in a non-functional protein

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16
Q

Which mutation causes cystic fibrosis

A

Deletion of 3 nucleotides on te CFTR protein, causes improperly formed protein

17
Q

What is an insertion mutation?

A

When one or more extra nucleotides are added

18
Q

What is a deletion mutation?

A

When a nucleotide is skipped/removed

19
Q

What is a chromosome deletion?

A

-A chromosomal fragment is lost leading to gene loss
-If the centromere is lost an entire chromosome can be lost after a few divisions
-May cause death in an embryo

20
Q

What is a chromosome duplication?

A

-Small duplications of gene sections
-Can be advantageous amd lead to a new gene being formed

21
Q

What is a chromosomal inversion?

A

-Normal sequence is reversed
-Chromosome fragment breaks off and reattaches in reverse order
-Usually does not lead to serious conssequences

22
Q

What is a chromosomal translocation?

A

-Portion of a chromosome attaches to a non homolohous chromosome (exchange)
-Can happen when a break occurs
-Can be nondisruptive in noncoding regions
-Gametes may be missing a gene

23
Q

What is the beta globin gene family?

A

Consists of 5 different genes expressed at varying times in development, may have arose due from multiple duplication and divergence events evolutionarily