Genetics 2 Flashcards

1
Q

5’ methylguanosine CAP
3’ polyadenylic TAIL

Determines amino acid sequence

Massive

A

mRNA

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2
Q

Smallest RNA
Cloverleaf form

Brings amino acid

Tiny

Adaptor molecule

A

tRNA

transfer RNA

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3
Q

35% ribosomes
65% RNA
Molecular scaffold

Catalyzes peptide bond formation

Contains 30s and 50s subunit

Rampant

A

rRNA

ribosomal RNA

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4
Q

Synthesis of mRNA from DNA

Only one DNA strand transcribed
Proceeds 5’ -> 3’ direction

Consists of initiation, elongation and termination

Promoter regions identified as start of transcription

DNA strands rejoin after RNA transcription

A

RNA transcription

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5
Q

Post transcriptional processing
(capping, tailing, splicing of mRNA)

Inhibited by Rifampicin, alpha aminitin and intercalators

A

RNA transcription

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6
Q

Protein synthesis
rRNA, tRNA, mRNA

Initiation and start codons

Elongation of polypeptide chain: amino to carboxyl end

Termination and stop codons

A

Translation

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7
Q
Inhibited by streptomycin
tetracycline
erythromycin
puromycin
chloramphenicol
A

Translation

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8
Q

Transport of mRNA into cytosol
Initiation
Elongation
Termination

A

Translation

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9
Q

Actinomycin D
Daunomycin
Rifamycin
Ofloxacin

inhibit

A

Replication

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10
Q

Actinomycin D
Daunomycin
Rifamycin

inhibit

A

Transcription

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11
Q
Tetracycline
Streptomycin
Erythromycin
Chloramphenicol
Puromycin 

Inhibit

A

Translation

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12
Q

ribosomal binding site in the mRNA, generally located upstream of the start codon AUG

Helps recruit the ribosome to the mRNA to initiate protein synthesis by aligning it with the start codon

Core DNA sequence 5’ TATAAT-
3

A

Shine-Dalgarno Sequence

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13
Q

sequence TATAAT of six nucleotides (thymine-adenine-thymine) etc. that is an essential part of a promoter site on DNA for transcription to occur in bacteria

Involved in the initial recognition of the promoter by RNA polymerase

A

Pribnow-Schaller box

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14
Q

exists only in prokaryotes

eukaryotic equivalent of the Shine-Dalgarno sequence is called the

A

Kozak sequence

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15
Q

A DNA sequence (cis-regulatory element) found in the promoter region of genes in eukaryotes

A

Goldberg-Hogness box

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16
Q

Small piece of DNA that inserts itself into another place in the genome

A

Jumping Genes

Transposons

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17
Q

Chromatin consists of very long double-stranded DNA molecules and a nearly equal mass of rather small basic proteins

A

histones

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18
Q

Unpaired change in nucleotide sequence in DNA

Base substitution - transition and transversion produces insertion, deletion, frameshift

Could be silent, missense or nonsense

Could be spontaneous or induced

A

Mutation

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19
Q

Transition and transversion produces insertion, deletion, frameshift

A

Base substitution

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20
Q

Point mutations:

A

Silent mutation
Missense
Non-sense mutation

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21
Q

No change in the amino acid

A

Silent mutation

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22
Q

A different amino acid

A

Missense

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23
Q

Stop codon is specified

A

Non-sense mutation

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24
Q

If the deletion or insertion is not a multiple of three -> resulting to a markedly changed protein

A

Frameshift mutation

Insertions and deletions

ex: Colorectal cancer (microsatellite instability)
Crohn’s
Cystic fibrosis

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25
Q

An agent that damages DNA bringing about structural changes (mutation)

A

Mutagen

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26
Q

Base substitutions:

C - T

C - A

A

Transition

Transversion

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27
Q

Amino acid substitution

Altered protein structure and function

A

Missense Mutation

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28
Q

formation of stop codons

premature terminations

A

Non sense mutations

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29
Q

Amino acid substitution

No change in protein function

A

Silent mutation

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30
Q

Substitution of valine for glutamic acid at position-6 of each b-chain

A

Missense mutation

Sickle Cell Anemia

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31
Q
Tautomeric base mispairs
Simple misalignment of repeated bases
Palindromic misalignment
Metabolism of quasipalindromes
Insertional mutagenesis (jumping genes or transposons)
A

Spontaneous mutation

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32
Q

Ionizing radiation

Ultraviolet radiation

A

Radiation mutagenesis

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33
Q

Induced mutation

A

Radiation mutagenesis

Chemical mutagenesis

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34
Q

Strand breaks (single and double)
Oxidation of sugar moiety
Rupture of hydrogen bonds
Deamination/dehydroxylation

A

Direct effects

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35
Q

Add alkyl group to nitrogen or oxygen atoms in the bases

N - nitrosamines
Aflatoxins
Ethylene dibromide
Amino acid hydrosylates

A

Alkyating agents

36
Q

Mechanisms of DNA repair

A

Excision repair
Photoreactivation
Recombinational repair

37
Q

Protective Mechanisms

Enzymatic

A
Photolyase *
Superoxide dismutase * 
Catalase *
Glutathione peroxidase * 
Glutathione transferase
Desulfitase
Demethylase
Copy-editing enzyme
38
Q

Protective Mechanisms

Compounds with protective groups

A
Acetyl CoA
Glutathione
Water
Amino acids
Vitamins and minerals
39
Q

Removal of errors

Proof reading of DNA polymerase due to 3’ —> 5’ exonuclease activity

A

DNA repair

40
Q

Diseases associated with defects in DNA repair

A

XP

Hereditary retinoblastoma

41
Q

DNA is repaired rather than degraded very efficient

High priority process for maintaining cellular function

A

DNA repair

42
Q

DNA repair in these cells to preserve species

A

germ cells

43
Q

DNA repair in these cells to avoid uncontrolled cell growth and disease (cancer)

A

somatic cells

44
Q

Recognition and removal of altered portion of DNA by repair nucleases

“Filling in” of gaps by DNA polymerase

Sealing of nicks by ligase

A

Fundamental steps in DNA repair

45
Q

A composite DNA made up of a DNA fragment ligated with another DNA

A

Recombinant DNA

46
Q

Sequence-specific endonucleases

Cut doubled stranded DNA at specific sites

Recognize palindromic regions

A

Restriction enzymes

47
Q

Cleave DNA at palindromic sites
Derived from bacteria
Produce DNA fragments of manageable size

A

Restriction enzymes

48
Q

A test to identify the chromosomal location of an affected gene

Flourescence in situ hybridization to a chromosome region with a deletion or mutated gene is a powerful new tool in genetic diagnosis

A

FISH

Fluoresence in-situ hybridization

49
Q

Amplifies very tiny pieces of DNA
Repeated cycles of denaturation, annealing, polymerization of primers (20-30x)

Uses heat-stable DNA polymerase (Taq POL)
DNA primers and dNTPs
Used in forensic medicine

A

Polymerase Chain Reactions (PCR)

50
Q

A method to amplify small quantities of DNA or RNA

This powerful tool is helpful in genetic research and diagnosis. It also has been valuable in the rapid diagnosis of infectious diseases such as herpes simplex virus and tuberculosis

A

Polymerase Chain Reaction

51
Q

An inherited difference in the pattern of restriction enzyme digestion

A

Restriction fragment length
Polymorphism
RFLP

52
Q

A plasmid into which the DNA sequences from bacteriophage lambda that are necessary for the packaging of DNA

A

Cosmid

53
Q

Enzyme responsible for unwinding DNA

A

helicase

54
Q

Both parental strands serve template
Strand seprated by helicase
Requires DNA Polymerase III and I
Semi-conservative process

A

DNA replication

55
Q

unwinding of DNA and primer formation

A

Initiation

56
Q

Formation of daughter DNA strands

A

Elongation

57
Q

Removal of mismatched bases

A

Proof-reading

58
Q

DNA Replication

A

Initiation
Elongation
Termination

59
Q

origin/Region of replication

studied from E. coli

A

Oric

60
Q

begins at a single origin of replication called oric

Unwinding and formation of Primers

A

Initiation

61
Q

Are short RNA oligonucleotides which provide 3’-OH for initiation of DNA synthesis

A

Primers

62
Q

3’ OH

A

Primer terminus

63
Q

Drug that inhibits RNA polymerase used in traveller’s diarrhea

A

Rifaximin

Rifampin

64
Q

Extends the primers

A

DNA Polymerase III

65
Q

Removes the primers for ligase to ligate Okazaki fragments

A

DNA Polymerase I

66
Q

RNA transcription begins at

A

promoter region

67
Q

Inhibited by rifampicin, a- aminitin and intercalators

A

RNA transcription

68
Q

Three bases in DNA code for one amino acid. The DNA code is copied to produce

Determines amino acid sequence

A

mRNA

69
Q

Translation involves

Not found in other steps

A

Transport of mRNA into cytosol

70
Q

OH 3’ end is where

5’ end is where

A

amino acid is attached

phosophate is attached

71
Q

Parts of tRNA

A
Oh 3’ end (acceptor arm)
Phosphorylated 5’ end
Dihydrouridine loop
T loop
Anticodon loop
72
Q

Responsible for insertional mutagenesis

Small piece of DNA that inserts itself into another place in the genome

A

Jumping Genes

Transposons

73
Q

Microlesion

A

Frameshift

Base substitution

1) transition
2) transversion

74
Q

Macrolesion

A

Deletion
Duplication
Rearrangement

75
Q

A mutation that is produced by treatment with a physical or chemical agent that affects the deoxyribonucleic acid molecules of a living organism

Chemical or physical

A

Induced mutations

76
Q

A region of DNA nucleotide sequence is identical with an inverted sequence

A

Palindrome

77
Q

DNA repair enzymes for the damage of UV light

A

Photolyases

78
Q

Damaged base is cut out and replaced with DNA

A

NER Nucleotide excision repair

Base repair

79
Q

Responsible of pyrimidine dimers formed from UV radiation

A

Nucleotide Excition Repair

NER

80
Q

Results from faulty nucleotide excision repair NER

A

Xeroderma pigmentosum

81
Q

Mutation to Zn-Cu superoxide dismutase

A

ALS

82
Q
55/M
Dysphagia
Dysarthria
Weakness of ALL Ext
Progressive weight loss
Severe muscle wasting
Tongue fasciculations
Spasticity
Atrophy
Bilateral babinski

Zn-Cu Superoxide dismutase 1

A

ALS

Lou Gehrig’s Disease

83
Q

Microscopic inclusion bodies in spinal cord of ALS

A

Bunina bodies

84
Q

Drug of Choice that improves survival of ALS

A

Riluzole

85
Q

Riluzole blocks

A

Glutamate