Genetics Flashcards

1
Q

DNA is a polymer consisting of deoxyribonucleoside monophosphates covalently linked by _____ bonds

A

3’ 5’ phosphodiester bonds

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2
Q

2 antiparallel strands of DNA are joined By ____ bonds

A

Hydrogen

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3
Q

Highly repetitive sequences (TG-rich) at the end of the chromosomes

A

Telomeres

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4
Q

Percent if cellular DNA located in mitochondria

A

1%

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5
Q

Structural form of DNA
Right handed helix
11 base per turn
Moderately dehydrated B form

A

A DNA

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6
Q

Structural form of DNA
Right handed helix
10 residues per turn

A

B DNA

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7
Q

Structural form of DNA

Left handed

A

Z DNA

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8
Q

Structural form of DNA

12 base pairs per turn

A

Z DNA

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9
Q

Structural form of DNA

Found in areas of alternating purines and pyrimidines

A

Z DNA

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10
Q

Polymer consisting of purine and pyrimidine ribonucleotides linked by 3’ 5 phosphodiester bonds

A

RNA

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11
Q

Sugar moiety of DNA

A

Deoxyribose

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12
Q

DNA OR RNA

Double stranded

A

DNA

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13
Q

DNA OR RNA

SINGLE stand

A

RNA

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14
Q

DNA OR RNA

Chargaffs rule does NOT apply

A

RNA

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15
Q

DNA OR RNA

Stabel

A

DNA

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16
Q

DNA OR RNA unstable

A

RNA

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17
Q

DNA OR RNA

Cannot be hydrolyzed by alkali due to the absence of 2 OH group

A

DNA

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18
Q

DNA OR RNA

Cam be hydrolyzed by alkali due to 2’3’ cyclic diesters of the mononucleotides

A

RNA

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19
Q

Copies genetic info from DNA

serves as template for protein synthesis

A

mRNA

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20
Q

mRNA structure in eukaryotes

A

Methylguanosine cap at 5’ 3end

Poly(A) tail at the 3’ end

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21
Q

Contributes to formation of ribosomes which act as the site for protein synthesis

A

rRNA

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22
Q

Adapter molecule that translates the nucleotide sequence if mRNA into specific AA

A

TRNA

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23
Q

Contains anticodons

A

TRNA

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24
Q

Cloverleaf appearance in 2D

A

Trna

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25
Q

Acceptor arm of TRNA terminates at what nucleotide

A

tRNA

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26
Q

Involved in rRNA and mRNA processing and gene regulation (eg removal of introns)

A

Small nuclear RNA

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27
Q

Micro RNA

Silencing RNA

A

Noncoding regulatiry RNA

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28
Q

DNA replication occurs in what phase of cell cycle

A

S phase

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29
Q

Each strand becomes part of daughter strand

Ech stand serves as template for complementary daughter strand

A

Semi conservative process

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30
Q

Steps in DNA replication

Origin of replication is recognized by ___

A

ORC origin recognition complex

DNAa protein in E coli

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31
Q

Steps in DNA replication

Unwinds double helix in a process driven by ATP

A

Helicase

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32
Q

Steps in DNA replication

Maintains separatikn of parent strands

A

Single stranded DNA binding proteins

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33
Q

Relieves torsio al strain that result from helicase-induced unwinding

A

Topoisomerase

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34
Q

Swivelase

A

Topoisomerase type I

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35
Q

Gyrase

A

Type II topoisomerase

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36
Q

Topoisomerase inh by fluoroquinolones

A

Type II (Gyrase)

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37
Q

Synthesizes short segments of complementary RNA primers

A

Primase

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38
Q

Steps in DNA replication

Elongates DNA strand by adding new deoxyribonucleotides

A

DNA polymerase III

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39
Q

Direction of synthesis

A

5’ to 3’

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40
Q

Strand that is synthesized continuously

A

Leading stand

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41
Q

Strand that consists of okazaki fragments

A

Lagging

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42
Q

Direction for proof reading by exonucleases

A

5’ to 3’

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43
Q

Fills tha gap with deoxyribonucleotides

A

DNA pol I

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44
Q

Seals the nick by catalizing the formation of the last phosphodiester bond
Requiring hydrolysis of ATP

A

DNA ligase

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45
Q

DNA polymerase
Gap filling following DNA replication
Repair and recombination

A

I

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46
Q

DNA polymerase
Proof reading and repair
E coli

A

II

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47
Q

DNA polymerase
DNA repair
Eukaryotes

A

Beta

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48
Q

DNA polymerase
Mitochondrial synthesis
Eukaryotes

A

Gamma

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49
Q

DNA polymerase

Processive, leading strand synthesis

A

III or epsilon

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50
Q

Primase

A

DNAG or alpha

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51
Q

Processive
Lagging stand synthesis
DNA polymerase

A

Delta

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52
Q

DNA lesion

Errors that escaped proof reading

A

Mismatched strand

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53
Q

DNA lesion

Exposure to UV light

A

Pyrimidine dimers

Usually thymine

54
Q

DNA lesion

Spontaneous or deaminating compounds

A

Base alterations

Eg cytosine to uracil or guanine to xanthine

55
Q

DNA lesion
Ionizing radiation
Free radicals
Anti-tumor drugs

A

Double strand breaks

56
Q

DNA lesion

HNPCC (Lynch syndrome)

A

Mismatched strand

57
Q

DNA lesion

Xeroderma pigmentosum

A

Pyrimidine dimers

58
Q

DNA lesion

MUTYH-associated polyposis

A

Base alterations

59
Q

DNA lesion
SCID
Breast CA susceptibility 1 and 2

A

Double strand breaks

60
Q

Repair mechanism

Mismatched strand

A

Mismatch repair

61
Q

DNA lesion

Pyrimidine dimers

A

Nucleotide excision repair

62
Q

DNA lesion

Base alteration

A

Base excision repair

63
Q

DNA lesion

Double stand breaks

A

Homologous recombination

64
Q

Synthesis of RNA usinf DNA as template

A

Transcription

65
Q

Enzyme for transcription

A

DNA-dependent RNA polymerase

66
Q

rRNA

A

Pol I

67
Q

tRNA, 5S rRNA

A

III

68
Q

mRNA, lncRNA, miRNA, SnRNA

A

II

69
Q

RNA binds to DNA promoter sequence

A

Initiation

70
Q

Prmoter squence in prokaryotes

A
-35 sequence TTGACA
Pribnow box (TATAAT), about -10 bp
71
Q

Promoter sequence in eukaryotes

A

TATA or Hogness box, about -25 bp

CAAT box, about -70 to 80 bp

72
Q

Occurs to create a transcriptionbubble in eukaryote initiation of transcriptiom

A

Unwinding of DNA

73
Q

Local unwinding of the DNA continues in what direction

A

5’ to 3’

74
Q

Step in transciption

RNA ploymerase synthesizes RNA using nucleoside monophosphates releasing pyrophosphate each time

A

Elongation

75
Q

Termination signal that requires formation if hairpin loop

A

p-independent

76
Q

Termination signal that requires p-protein to release RNA from DNA

A

P-dependent

77
Q

Post transcriptional modifications
___ are removed
____ are spliced together

A

Introns

Extrons

78
Q

Post transcriptional modifications (4)

A

Additin of 7-methylgunaosine cap
Addition of poly(A) tail
Addition of -CCA tail

Methylation
Reduction
Deamination
And rearrangements of glycosidic bonds to create unual bases

79
Q

Encodes Beta galactosidase

A

Z gene

80
Q

Encodes galactosidase permease, a transport protein required for entry of lactise into the cell

A

Y gene

81
Q

Encodes thiogalactoside transacetylase, whose function is unknown

A

A gene

82
Q

Encodes thiogalactoside transacetylase, whose functions is unkown

A

A gene

83
Q

Encodes a lac repressor protein that is constitutively expressed and located at a distant site in DNA

A

i Gene

84
Q

Template for translation aka protein synthesis

A

mRNA

85
Q

Adapter molecule in translation

A

tRNA

86
Q

Total codons

A

64

87
Q

Total codons that code for AA

A

61

88
Q

Stop codons

A

UAG
UAA
UGA

89
Q

Start of initiating codon for methionine in eukaryotes or formylmethionine in prokaryotes

A

AUG

90
Q

Characteristics of the genetic code

Multiple codons may code for the same AA

A

Degenerate

91
Q

Characteristics of the genetic code

A specific codon always codes for the same AA

A

Unambiguous

92
Q

Characteristics of the genetic code

The codons are read in a continuing sequence of nucleotide triplets until a translation stop codon is reached

A

Nonovelapping

93
Q

Characteristics of the genetic code
It has beed conserved from very early stages of evolution with only slight difference in the manner in which the code translated

A

Universal

94
Q

Contains the first codon for translation

A

tRNA

95
Q

Before initiation, aminoacyl-tRNA synthetases attach AA to their respective tRNAs

A

Charging

96
Q

Translation

Site of incoming aminoacyl tRNA

A

A site

97
Q

Translation initiation

Occupied by peptidyl-tRNA

A

P site

98
Q

Translation initiation

Occupied by the empty tRNA

A

E site

99
Q

A cyclic proces on the ribosome in which one AA at a time is added to the growing peptide chain

A

Elongation

100
Q

Translation
Elongation Steps
Aminoacyl tRNA binds to _____ site except in the first aminoacyl-tRNA which binds to ____site

A

A site

P site

101
Q

Peptide bond formation is catalyzed by

A

Peptidyltransferase

102
Q

Translation
Elongation Steps
Translocation of the ribosome on the ____

A

mRNA

103
Q

Translation
Elongation Steps
Expulsion of the deacylated tRNA from

A

P and E site

104
Q

Step in translation

Occurs when one of the three termination codons moved into the A site

A

Termination

105
Q

Step in translation

Results in the release of the newly synthesized protein and dissociation of the ribosomes and mRNA

A

Termination

106
Q

Addition of single AA to the polypeptide chain requires cleavage of four high energy bonds from ____ and ____

A

ATP and GTP

tRNA aminoacylation (ATP)
Loading of tRNA onto ribosome (GTP)
Translocation (GTP)

107
Q

Post-translational modifications

A

Removal of excess AA
Phosphorylatiom
Glycosylation
Hydroxylation

108
Q

Marks defective proteins for destructiom

A

Ubiquitin

109
Q

Degrades defective proteins

A

Proteasomes

110
Q

Peptide toxid alpha aminitin inhibits ______

A

RNA POL II

111
Q

Diphtheria toxin inhibits ——- preventing translocation

Results in local tissue translocation and pseudomembrane formation

A

Elongation Factor 2

112
Q

2 Inhibitors of transcription

A

Rifampicin

Dactinomycin

113
Q

Inhibitors of transcription

Binds to beta subunit of bacterial DNA-dependent RNA polymerase

A

Rifampicin

114
Q

Inhibitors of transcription

Binds to the DNA template and interferes with the movement of RNA polymerase during transcription

A

Dactinomycin

115
Q

Protein synthesis inh

Binds to 30s subunit and interferes with initiation

A

Streptomycin

Aminoglycosides

116
Q

Protein synthesis inh

Prevents binding of aminoacyl tRNA to the A site

A

Tetracycline

117
Q

Protein synthesis inh

Inhibits prokaryotic peptidyltransferase

A

Chloramphenicol

118
Q

Protein synthesis inh

Bind to the 50s subunit and inhibits translocation

A

Clindamycin and macrolides

119
Q

Types of point mutations

A

Transition

Transversion

120
Q

Purine to purine

Pyr to pyr

A

Transition

121
Q

Pur to pyr or

Pyr to pur

A

Transversion

122
Q

New codon codes for same AA

No effect on protein

A

Silent mutation

123
Q

New codon codes for diff AA

Variable effects on protein

A

Missense

124
Q

New codon is stop codon

A

Nonsense mutation

125
Q

Deletion or addition of bases that should not bemmultiples of three
Shorter than normal usually non-functional protein

A

Frame shift mutation

126
Q

Loss of large areas of chromosomes during unequal crossover in meiosis
Loss of function
Protein shorter than normal or entirely missing

A

Large segment deletion

127
Q

Tay Sachs
Gaucher
B thalassemia

A

Splice donor or acceptor

128
Q

Variable effects ranging from addition or deletion of a new AA to deletion of entire exon

A

Splice donor or acceptor

129
Q

Huntingtong dse
Fragile X syndrome
Myotonic dystrophy

A

Triple repeat expansion

130
Q

Diseases show anticipation in pedigree

Expansions in coding regiond cause protein product to be longer than normal and unstable

A

Triple repeat expansion