Genetics Exam 3 Flashcards

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1
Q

forward genetics

A

see a mutation and go back and see what caused it

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2
Q

reverse genetics

A

you introduce the mutation

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3
Q

transcription

A

synthesizes three types of RNA from information in DNA

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4
Q

translation

A

uses the information in mRNA to synthesize proteins

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5
Q

Indirect evidence that DNA is genetic information

A
  • protein abundant in cytoplasm, DNA is not
  • mitochondria and chloroplasts perform genetic function, and DNA is present in these organelles
    -somatic cells are diploid and gametes are haploid
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6
Q

UV Light

A

-capable of introducing mutations in the genetic material at a wavelength of 260 nm
-DNA and RNA absorb UV light most strongly at 260 nm
- protein absorbs most strongly at 280 nm
260/280 ratio used to assess nucleic acid content
- ratio of 1.8 is pure for DNA, 2.0 is pure for RNA

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7
Q

what makes up DNA?

A

nucleotides (building blocks of DNA)

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8
Q

What does a nucleotide consist of?

A

nitrogenous base, pentose sugar, phosphate group

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9
Q

Pyrimidine

A

C (cytosine), T(thymine), U(uracil)

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10
Q

Purine

A

A (adenine), G (guanine)

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11
Q

how are nucleotides linked?

A

phosphodiester bond-> between the phosphate group at the C-5’ position and the OH group on the C-3’ position

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12
Q

oligonucleotides

A

short chains consisting of up to 20-50 nucleotides

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13
Q

poylnucleotides

A

longer chains, give rise to variation

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14
Q

denaturation

A

melting, strands separating by heat

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15
Q

hyperchromic shift

A

used to determine meting temperature (Tm), increase in the absorption of light

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16
Q

nucleic acid electrophoresis

A

electric field separates DNA and RNA fragments by size, smaller fragments migrate through a gel at a faster rate than large fragments
- medium such as agarose gel or polyacrylamide gel with various pore sizes
- higher percent= smaller pores

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17
Q

conservative replication

A

parental strands re-pair

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18
Q

semiconservative replication

A

one old strand and one new strand

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19
Q

dispersive replication

A

some old and new on each chromosome

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20
Q

initiation (transcription)

A

unwind DNA, find a starting place, build replication fork

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21
Q

elongation

A

DNA replication

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22
Q

termination

A

finish DNA replication

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23
Q

ORI

A

origin of replication

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24
Q

primase

A

an enzyme that synthesizes short RNA sequences called primers
- binds to DnaB helicase, recognizes a specific target sequence that serves as a template for primer

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25
Q

DNA polymerase

A

des to the 3’ end of an existing DNA or RNA molecule (5’ to 3’ direction)
- helps reshape the dsDNA helix by aiding in H-bond formation between the bases in the old and new DNA strand
- proof-reads and corrects mistakes

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26
Q

DNA Pol1

A

removes primer and fills in gap between Okazaki fragments with DNA

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27
Q

DNA ligase

A

connects the phosphate backbone

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28
Q

Where is a new nucleotide attached

A

attached to the -OH group on the 3’ end of the DNA

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29
Q

Eukaryotic DNA replication

A
  • more than 10 DNA Pols
  • different DNA Pols for leading and lagging strand synthesis
  • nucleosomes are disassembled and immediately reassembled following DNA replication
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30
Q

telomerase

A

ribozyme, an enzyme with protein and RNA components
- adds nucleotides to end of DNA strand

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31
Q

annealing

A

renaturing

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32
Q

to create DNA in vitro you need:

A

template DNA, primer, DNA polymerase, dNTPs, energy

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33
Q

cycle threshold

A

once reaches this point, it is what the test is “positive”, detectable fluorescent signal

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34
Q

ORF

A

open reading frame

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35
Q

Automated Sanger sequencing pros and cons

A

Pros: accurate, read length about 400 bp
Cons: High cost, relatively low throughput

36
Q

next generation sequencing

A

post-Sanger sequencing technologies
- high throughput

37
Q

Library

A

a collection of close to uniformly sized fragments of the genome with adapters

38
Q

adapter

A

known sequence ligated to end of the library fragments to enable amplification

39
Q

template

A

a single fragment from the library

40
Q

read

A

the qesuence of a single template determined by sequencing reaction

41
Q

read length

A

the number of base pairs in a read

42
Q

throughput

A

-amount of data a sequencing instrument can produce in a run
- equal to read length* number of reads, is a number in base pairs

43
Q

alignment

A

lining up the reads to an existing sequence based on matching

44
Q

assembly

A

lining up the reads to themselves to find best matches

45
Q

consensus sequence

A

the best guess for a given sequence based upon alignment/assembly of multiple reads

46
Q

mutation

A

change in DNA coupld potentially lead to a change in phenotype
- can be beneficial, harmful, neutral
- have to be heritable

47
Q

transition

A

purine replaced by another purine or pyrimidine replaced by another pyrimidine

48
Q

transversion

A

purine replaces by pyrimidine or pyrimidine replaced by purine

49
Q

silent mutation

A

codon codes for same amino acid

50
Q

missense mutation

A

codon specifies a different amino acid

51
Q

synonymous missense mutation

A

codon specifies chemically similar amino acids

52
Q

nonsynonymous missense mutation

A

codon specifies chemically dissimilar amino acid

53
Q

nonsense mutation

A

codon signals chain termination

54
Q

spontaneous lesions

A

deamination of cytosine generate uracil- complements with A

55
Q

oxidative damage

A

8-Oxo-7-hydrodeoxyguanosine can mispair with A causing G-T transversions

56
Q

mutation repair mechanisms

A
  • prevention of errors
  • damage reversal
  • excision repair
  • post replication repair
57
Q

prevention of errors

A

superoxide dismutase/catalase function
- converts superoxide radicals into hydrogen peroxide, then catalase converts H2O2 into water

58
Q

reversal of damage
(photolyase)

A
  • direct repair of mutant bases
  • photolyase: recognizes and binds to cyclobutene pyrimidine photo dimer following UV exposure; separates dimer into original conformation at certain wavelengths of light; no longer used in placental mammals
59
Q

SOS Bypass System (in Bacteria)

A

cell trades death for certain level of mutagenesis

60
Q

Postreplication repair

A

-Mismatch-repair system: recognizes mismatched base pairs, determines which base is correct, excise incorrect base and repair

61
Q

ow to tell old from new strand

A

old strand is methylated, new strand is not, old strand (methylated) is correct

62
Q

genome

A

all the genetic material in a cell

63
Q

transcriptome

A

all the RNA present in a cell

64
Q

Proteome

A

all the protein present in a cells

65
Q

sigma factor

A

subunit of RNA polymerase that binds to the -10 and -35 elements on the coding strand, bends dsDNA causeing the -10 element to become single stranded

66
Q

terminator sequence

A
  • once this has been transcribed, termination of RNA occurs
  • palindromes that cause the new single-stranded RNA to fold back on itself creating a stem/loop structure
67
Q

DNA binding domain

A

allows protein to bind to DNA

68
Q

Protein binding domain

A

allows protein to interact with another protein

69
Q

regulatory domain

A

region of domain that binds to a cofactor

70
Q

trans-activation domain

A

interacts with RNA polymerase

71
Q

lac operon

A

breakdown of lactose into glucose and galactose

72
Q

permease

A

transports lactose into cell

73
Q

beta-galactosidase

A

cleaves lactose

74
Q

What happens if both glucose and lactose are present in the cell?

A

cell will utilize almost all glucose before switching to lactose

75
Q

RNA Pol II

A

mRNAs

76
Q

RNA Pol I

A

rRNAs

77
Q

RNA Pol III

A

tRNAs, snRNAs, and scRNAs

78
Q

metabolome

A

metabolic byproducts

79
Q

ribosomes

A

enzymes that perform protein translation
- contains protein and rRNA components
- consists of large and small subunit

80
Q

tRNA

A

short RNAs that bring amino acids to the ribosome

81
Q

Shine-Dalgarno sequence

A

ribosome binding site

82
Q

initiation factors

A

small proteins that aid in ribosome assembly

83
Q

end product of initiation of translation

A

ribosome is assembled on mRNA and the first tRNA is attached to the initiation codon in the P site of the ribosome

84
Q

translation termination

A

release factor is recruited to the stop codon-> causes ribosome to disassemble and fall off the mRNA and the protein chain to be released

85
Q

location of translation in prokaryotes vs eukaryotes

A

in eukaryotes, translation occurs in the cytosol, while transcription occurs in nucleus; transcription and translation are NOT coupled

85
Q

Kozak sequence

A

in eukaryotes, ribosome binding site, overlaps start codon