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Biology - Genetics > Evolution - DNA Mutations > Flashcards

Evolution - DNA Mutations Flashcards

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AP® Biology flashcards Biology 101 flashcards
1
Q

Missense Mutaiton

A

A change in DNA resulting in different amino acids being encoded at specific positions in the resulting protein.

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2
Q

Point Mutaitons

A

The change of a single nucleotide

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3
Q

Indels

A

Insertions/Deletions of nucleotides into genomic DNA

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4
Q

Transposable Elements

A

NA sequences that can change position within the genome, altering cell identiy and genome size

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5
Q

Inversions

A

Where segments of the chromosome break off and reattach in the reverse direction

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6
Q

How large can Transposable Elements be?

A

100 to 10,000 BP

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7
Q

Retrotansposons

A

TE replication through reverse transcription of an RNA copy and integration product DNA into new sites of the host.

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8
Q

DNA transposons

A

Small DNA strands that can move from one place of the genome to another.

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9
Q

Knockout Mutation

A

A permanent stoppage of gene expression.

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10
Q

What are the two types of Transposable Elements?

A

Retrotransposons and DNA Transposons

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11
Q

Where do Transposable Elements occur?

A

Mostly in non essential genomic regions

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12
Q

Frameshift Mutation

A

Those in which indels are in numbers not multiples of threes

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13
Q

What does a frameshift mutation mean for the gene of which it is in?

A

The expressed protein will be non-functional due to changes in amino acid sequence.

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14
Q

Anticipation

A

Genetic conditions becoming more severe and appearing earlier as disorder is passed through generations.

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15
Q

What causes increased Anticipation?

A

Increased numbers of tandem repeats

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16
Q

Replication Slippage

A

Where DNA strands misallign during replication of repeated DNA sequences.

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17
Q

What is the process of Replication Slippage?

A

Replication strand synthesis, complex disassciates then reassociaties, 3’ of strand reanneals to template, pairing with upstream set of repeats.

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18
Q

What causes expansion in Replication Slippage?

A

Different number of repeats between daughter and template strand, nucleotide excision repair system introduces expanded region into template strand.

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19
Q

What causes FMR1 inactivation?

A

Methyl group addition to cytosine NT in 5’ region of the FMR1 gene, repressing gene at high densities.

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20
Q

G Quartet

A

Four Guanine residues forming a ring like structure where each NA is both a donor and acceptor for hydrogen bonds

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21
Q

FMRP

A

Transports mRNA molecules in synapses and regulates local translation.

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22
Q

AMPA receptors

A

Responsible for bulk of synaptic transmission through CNS.

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23
Q

How does FMRP relate to AMPA?

A

FMRP regulates translation of mRNA movement at synpases, like AMPA.

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24
Q

What is an example of a frameshift mutations?

A

Cystic Fibrosis, cronhs disease and many cancers

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25
Q

CF Transmembrane Conductance Regulator

A

Helps in maintenance of balance of salt and water on surfaces in the body like the lung.

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26
Q

Minor Allel Frequency

A

The Frequency of which the second most common allele occurs in a population.

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27
Q

What are the most frequent mutations?

A

Single NT variants like SNP or SNV.

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28
Q

Dynamic Mutations

A

Unstable heritable elements where expression probability is a function of number of copies of the mutations, thus progeny has different mutation likelihood than predecessor.

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29
Q

What is an example of a dynamic mutation

A

FMR1 mRNA trinucleotide repeat expansions silence promoters at 55-200 CGG-CCG repeats.

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30
Q

What repeats can undergo expansion?

A

Trinucleotide repeats, microsattelites and minisattelites

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31
Q

Sherman Paradox

A

The incidence of fragile X can increase with subsequent populations, where X chromosomes duplicate, the triplet CGG is repeated again and again.

32
Q

What is the average amount of repeats in the FMR1 gene?

A

30 in humans

33
Q

What are examples of diseases caused by dynamic mutations?

A

Huntingtons, spinal-bulbar muscular atrophy

34
Q

What are tandem repeats most often caused by?

A

Strand-slippage replication

35
Q

What diseases are tandem repeats associated with?

A

Neurodegenerative diseases

36
Q

How much of the entire genome is tandem repeats?

A

3%, 8% of this being in coding regions.

37
Q

What are hypothetical functions of tandem repeats?

A

Bacteria as contingency genes allowing pre-emptive mutational events to improve microbial survival.

38
Q

What do contingency genes do in bacteria?

A

Cause frameshift mutations to express different proteins that may assist in avoidance of immune systems.

39
Q

What genes can STRs assist in?

A

PIG3 gene
Tyrosine Hydroxylase
Epidermal Growth Factor

40
Q

Tyrosine Hydroxylase

A

This synthesise dopamine from glutamine

41
Q

What is the mutation rate of STR?

A

10^-2 nt per generation.

42
Q

What are the potential causes of mutation of STR?

A

Homologous chromosomes crossover in meiosis, retrotransciprt STR synthesised A-rich STRS a function of retro transcription but probably polymerase slippage.

43
Q

What are kinds of mutation?

A

Germline vs Somatic
Point Mutations
Spontaneous vs Induced

44
Q

What mays can mutations occur?

A

Change in gene position/number or nucleotide sequences

45
Q

Somatic Mutations

A

These are not passed onto offspring, on from all cells derived from the original mutaiton

46
Q

How much cancer caused by somatic mutations?

A

85%

47
Q

Germ-line Mutations

A

Passed onto offspring causing inherited genetic disease being natural selection basis

48
Q

What is an EG of base pair mutation?

A

Sickle Cell Anemia

49
Q

What is Sickle Cell based on?

A

Adenine replaced by a thymine in the HBB gene resulting in codon change from glutamic acid to valine

50
Q

Why does Haemoglobin S cause SCA?

A

Cannot polymerise forming sickle chape with beta globin altered and blood vessel blockage by RBC conglomeration

51
Q

What causes spontaneous mutation?

A

DNA replicaiton like base tautomerism

52
Q

What is an example of spontaneous mutation?

A

Nucleotidal change to isomeric or tautomeric conformations

53
Q

Why is tautomerism significant?

A

As DNA structures exist primarily in one tautomeric form, that being the keto form

54
Q

What might cause SNP?

A

Slippage with DNA secondary structures where misallignment with template result in NT addition

55
Q

What may cause Induced mutations?

A

Chemical
Physical

56
Q

What are the types of Chemical modificaitons?

A

Checmical resembling DNA bases pairing incorrently when incorporated
Deamination
Hydrocarbon addition to NT base

57
Q

How may 5 BromoUracil cause mutation?

A

Incorporates though it was thymine rearranging to resemble cytosine being a base analogue

58
Q

Base Analogue

A

These are molecuels that can substitue for normal bases in nucleic acids

59
Q

What does mutatability of 5BU derive from?

A

Ability to nudergo tautomeric shifts converting from keto to enol forms

60
Q

What is the most common form of deamination?

A

Cytosine to Uracil with DNA replication mispairing, resulting in A insertion instea dof C

61
Q

Alkylating Agents

A

These are compounds reacting with electron-rich atoms in biological molecuiels to form covalent bonds

62
Q

What derives Alkylating Agents capacity to mutate?

A

High electrophilicity allowing reacting to nucleophiles

63
Q

Where do alkylating agents nuclephilically attack?

A

Nitrogen/Oxygen present in DNA bases with alkyl group transfer

64
Q

What is the most common chemical modificaiton?

A

Methyl/Ethyl group additiosn to N7 of guanine

65
Q

Ethyl Methanosulfonate

A

This is a mutagenic, teratogenic and carcinogenic agent

66
Q

Intercalating Agents

A

These are hydrophobic, heterocyclic ring molecules resembling ring structures of base pairs

67
Q

What is an example of a Intercalating Agent?

A

Ethiidium Bromide causing frameshift mutations

68
Q

What does ionizsing radiation derive from?

A

High energy particles like X-ray, Gamma rays and alpha-beta particles

69
Q

What does ionising radiaiton form?

A

ROS of hydroxyl radicals and superoxide radicals

70
Q

What does UV radiation result in?

A

Pyrimidine dimer formation by UV-B radiation

71
Q

How does UV light exert its effects?

A

Promote electrons to higher energy states

72
Q

How many pyrimidine dimers be repaired?

A

Nucleotide Excision Repair Pathway

73
Q

What does NER deficiency result in?

A

Xeroderma Pigmentosum

74
Q

How can carcinogens be identifed?

A

Ames Test

75
Q

Ames Test

A

This is a bacterial short-term test for indetificaiton of carcinogens using mutagenicicty in bacteria as an endppint

Biology - Genetics (14 decks)

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