Genetics Flashcards

1
Q

The flow of genetic information

A

Central dogma

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2
Q

Flow of central dogma

A

Replication
Transcription
Translation

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3
Q

DNA will replicate into DNA

A

Replication

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4
Q

DNA is transcribed to mRNA, tRNA and rRNA

Only one strand of DNA is copied

After this process the DNA strands rejoin

A

Transcription

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5
Q

RNA to protein

Process where ribosomes synthesize proteins using the mature mRNA transcript produced during transcription

Synthesis of proteins

Uses Genetic Code

A

Translation

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6
Q

RNA transcribed to DNA

A

reverse transcription

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7
Q

Enzyme responsible for catalyzing reverse transcription

A

Reverse transcriptase

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8
Q

Virus utilizing reverse transcriptase

RNA - DNA

A

HIV

hepa B

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9
Q

Presence of several factors lead to disease

A

Mutation

Environment

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10
Q

RNA translated into amino acid and is then facilitated to become protein via folding by

A

chaperone

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11
Q

CHON misfolding lead to

A

disease

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12
Q

A group of proteins that have functional similarity and assist in protein folding

A

Chaperones

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13
Q

Protein misfolding will lead to either

A

Degradation

Aggregation

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14
Q

Aggregates of tau protein

Improper protein folding

A

Alzheimer’s disease

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15
Q

3 famous diseases that result from protein misfolding

A

Alzheimer’s
Huntington’s
Creutzfield Jacob Disease

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16
Q

Double stranded polymer of nucleotides

A

DNA structure

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17
Q

Nucleotides are linked by a

A

phosphodiester bonds

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18
Q

Each nucleotide is made up of a

A

Base and Sugar

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19
Q

Sugars of DNA

A

Deoxyribose

Phosphate

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20
Q

DNA structure:

A

Base
Deoxyribose sugar
Phosphodiesterase bond

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21
Q

The DNA is a double helix with the arrangement of strands in

A

antiparallel strands

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22
Q

DNA starts from the

A

R side
Antiparallel
Double stranded

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23
Q

Double-stranded
Helical
Antiparallel
Right-handed

A

Watson and Crick Model

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24
Q

Sugar-Phosohate backbone
Nitrogenous base pairs
Held by H bond

A

Watson and Crick Model

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25
Q

The DNA structure according to the Watson and Crick model is what type of DNA?

A

B form

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26
Q

Forms of DNA

A

B form
A form
Z form

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27
Q

R handed
With 11 residues/turn
28 A helix pitch
2.55 Rise/residue

A

A-DNA

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28
Q

How many angstroms are there in B DNA?

A

34 A

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29
Q

How many residues per turn in B DNA

A

10

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30
Q

Rise/Residue in B DNA

A

3.4

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31
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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32
Q

Anti histones is encountered in

A

Drug induced SLE

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33
Q

Drug inducing lupus include

A

Procainamide
Isoniazid
Methyldopa
Hydralazine

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34
Q

DNA is wound around this protein

A

Histone

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35
Q
Deoxyribose
Pyrimidine: C and T
Double stranded
follows Chargaff’s rule 
Preserves genetic information
Found in 2 copies of diploid cells in eukaryotes
A

DNA

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36
Q

Only pyrimidine in RNA

A

Uracil

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37
Q
Ribose
Pyrimidine: C and Uracil
Single stranded
Does not follow Chargaff’s rule
Performs various biologic functions
Multiple copies
A

RNA

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38
Q

Factors that stabilize DNA

A

Cooperative H bonding
Stacking interaction
Van der Waals forces
Ion-ion interactions

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39
Q

Attraction
Repulsion

between molecules and atoms

Weak intermolecular force

A

Van der Waals Forces

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40
Q

Correspondence between a sequence of bases and a sequence of amino acids

A

The Genetic Code

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41
Q

The Genetic Code (three-base codons) are found on

A

mRNA

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42
Q

Termination codons

A

UAG
UGA
UAA

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43
Q

The properties of the Genetic Code

A

Universal
Contiguous
Degenerate
Unambiguous (specific)

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44
Q

Redundant, because a single amino scid may be coded for by more than one codon

A

Degenerate

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45
Q

Watson and Crick double-stranded model of DNA strongly suggests that replication of the DNA molecule occurs in a

A

semiconservative manner

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46
Q

Remain intact in two separate daughter DNA

Are hybridized with an entirely new complementary strands

A

Parental strand

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47
Q

Where protein synthesis occurs

A

Rough ER

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48
Q

Transfers the genetic information from the nucleus where the DNA is located to ribosomes where protein synthesis is performed

A

Codon

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49
Q

The link between the nucleotide and the amino acid sequence of the mRNA and the amino acid sequence of the protein

A

Anticodons

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50
Q

The base sequence t RNA which pairs with codon of mRNA during translation

A

anticodon

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51
Q

Anticodon can easily be changed at this position

A

Wobble position

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52
Q

Initiation codon

Starts protein synthesis

A

AUG

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53
Q

AUG initiating codon codes for the amino acid

A

Methionine

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54
Q

The template began by initiating codon

A

mRNA

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55
Q

Are an important factor in cutting short the length of the protein chain

A

Stop codon

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56
Q

Type of mutation associated with stop codon

A

Nonsense

stop talking nonsense

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57
Q

Nucleic acids

A

DNA (deoxyribobucleic)

RNA (ribonucleic)

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58
Q

Nucleotide components

A

Inorganic phosohate
Simple sugar
Nitrogenous base

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59
Q

Base + Sugar + Phosphate =

A

Nucleotide

60
Q

Two types of nitrogenous bases

A

Purine

Pyrimidine

61
Q

Purine amino acids

A

Adenine
Guanine

PURe as gold

62
Q

Pyrimidine amino acide

A

Cytosine
Thymine
Uracil

RNA

Cut the PY

63
Q

Are derivatives of purines and pyrimidines that have a sugar linked to a ring nitrogen of a purine or pyrimidine

A

Nucleoside

N-glycoside

64
Q

The sugar in ribonucleosides is

A

D-ribose

65
Q

The sugar in deoxyribonucleosides is

A

2-deoxy-D-ribose

66
Q

Both sugars are linked to the heterocycle by this bond always to the N1

A

alpha 1 gycosidic bond

67
Q

Cytosine + cytidine

A

Cytidine monophosphate CMP

68
Q

Uracil + Uridine

A

Uridine monophosphate UMP

69
Q

Thymine + Thymidine

A

Thymidine monophosphate TMP

70
Q

Chargaff’s rule states that DNA from any cell of all organisms should have a 1:1 ratio of

A

Pyrimidine and purine

71
Q

The amount of gusnine is equal to cytosine and the amount of adenine is equal to thymine

A

Chargaff’s rule

72
Q

The conjugated double bonds of purine and pyrimidine derivatives absorb

A

Ultraviolet light

Nucleotides absorb UV light

73
Q

All the common nucleotides absorb light at a wavelength close to

A

260 nm

74
Q

The concentration of nucleotides and nucleic acids thus often is expressed in terms of

A

absorbance ar 260nm

ex. photospectometry

75
Q

The mutagenic effect of UV light is due to

A

absorption by nucleotides in DNA that result in chemical modifications

76
Q

The wavelength in nm used in the quantitative determination of nucleic acids using UV spectrophotometry is

A

260 nm

77
Q

In man, end product of purine metabolism is

A

uric acid

78
Q

In animals, uric acid is converted into

A

Allantoin, allantoate, urea

79
Q

Hypoxanthine
Xanthine
Uric acid

A

6-oxopurine

2,6 dioxopurine

80
Q

An addictive trimethylxanthine

A

Caffeine

81
Q

Dimethyl-xanthines that lack the methyl group at N1 and N7

A

Theobromine

Theophylline

82
Q

Uric acid metabolism

A

Ribose 5 PO4 (HMP/Pentose)
5-phosphoribosyl-1-Pyro PO4 (PPRP)
Adenosine monophosphate, inosine monophosphate, guanosine monophosphate

83
Q

Inosine monophosphate becomes

A

Inosine

84
Q

Inosine becomes

A

Hypoxanthine

85
Q

Hypoxanthine becomes

A

Xanthine by enzyme xanthine oxidase

86
Q

Xanthine becomes

A

Uric acid by the enzyme xanthine oxidase

87
Q

Catalyzes conversion of inosine to hypoxanthine

A

HGPRT

88
Q

Rate limiting step in uric acid synthesis

A

Xanthine oxidase

89
Q

Salvage reaction for purine nucleotide

A

Hypoxanthine Guanine Phosphoribosyltransferase HGPRT

90
Q

A hypoxanthine analog that competitively inhibits xanthine oxidase

A

Allopurinol

91
Q

Another drug that competitively inhibits xanthine oxidase

A

Febuxostat

92
Q

Acute Gout attack treatment

A

Colchicine

93
Q

Chronic gout attack treatment

A

Allopurinol

94
Q

Their toxic effects reflect either inhibition of enzymes essential for nucleic acid synthesis or their incorportation into nucleic acids with resulting disruption of base pairing

A

Synthetic nucleotide analogs are used in chemotherapy

95
Q

Synthetic nucleotide pyrimidine and purine analogs used in chemotherapy

A
5-fluoro or 5-iodouracil
flucystosine
6-mercaptopurine
allopurinol 
cytarabine
azathioprine
96
Q

Chemotherapy drug of choice for AML

A

Cytarabine

97
Q

Following exposure to nucleophiles (glutathiones) this drug is cleaved to 6-mercaptopurine which in turn is converted to additional metabolites that inhibit de novo purine synthesis

A

Azathioprine (Imuran)

98
Q

Metabolite of azathioprine

A

6-mercaptopurine

99
Q

Derivative of mercaptopurine
Prodrug
Cleaved to 6-mercaptopurine then to 6-mercaptopurine nucleotide, thioinosinic acid (nucleotide analog)
Inhibits de novo synthesis of purines required for lymphocyte proliferation
Prevents clonal expansion of both B and T lymphocytes

A

Azathioprine

100
Q

DUMP is converted to TMP by the enzyme

A

Thymidylate synthase

101
Q

5-FU inhibits conversion of dUMP to TMP by

A

inhibiting thymidylate synthase

102
Q

Inhibits dihydrofolate reductase

A

Methotrexate

103
Q

Folate is converted to tetrahydrofolate via

A

Dihydrofolate reductase

104
Q

Tetrahydrofolate is used in conversion to

A

Thymine

Purine

105
Q

Severe X-linked disease

Nearly total absence of HGPRTase activity

A

Lesch-Nyhan Syndrome

106
Q

Mental retardation
Self-mutilation
Aggressive behavior
Gout / hyperuricemia

A

Lesch-Nyhan HGPRTase deficiency

107
Q

Rare hereditary condition
High levels of orotic acid in urine
Absent orotate phophoribosyltransferase and orotate monophosphate decarboxylase

A

Orotic aciduria

108
Q
With hyperammonemia (no megaloblastic anemia) 
Orotic aciduria
A

Decreased OTC (urea cycle)

109
Q

Orotic aciduria

Megaloblastic anemia

A

Deficiency of U ??

110
Q

The three processes that contribute to purine nucleotide biosynthesis are

A

Synthesis from amphibolic intermediates (synthesis de novo)
Phosphoribosylation of purines
Phosphorylation of purine nucleosides

HGPRTase
Xanthine oxidase

111
Q

The major site for purine nucleotide biosynthesis is the

A

liver

112
Q

alpha ribose 5 phosphate will be converted to

Final product is

A

Phosphoribosyl pyrophosphate PRPP
Via PRPP synthetase

First step

Inosine monophosphate

113
Q

Adenine is converted to AMP by

A

Adenosine phosphoribosyl transferase

114
Q

Hypoxanthine becomes IMP via

A

Hypoxanthine guanine phosphoesterase ?

115
Q

Conversion of IMP to AMP and GMP is via

A

IMP dehydrogenase

Transaminidase

116
Q

IMP is converted into

A

AMP

GMP

117
Q

Synthesized from amphibolic intermediates

In the same pathway there is synthesis and degradation

A

Inosine monophosphate

118
Q

Mutation of PRPP synthetase
Abnormal PRPP amidotransferase structure
Partial HGPRTase deficiency
Hyperactive glutathione reductase

A

Gout

119
Q

Contains actual genetic information coding for protein

A

Exons

120
Q

Are intervening noncoding segments of DNA

A

Introns

121
Q

The sequence of a gene that is represented (expressed) as mRNA

Serve as the template

A

Exon

mRNA

122
Q

An enzyme that cleaves nucleotides from either the 3’ or 5’ ends of DNA

A

Exonuclease

123
Q

An enzyme that cleaves internal bonds in DNA or RNA

A

Endonuclease

124
Q

The removal of introns from RNA accompanied by the joining of its exons

A

Splicing

125
Q

Informational metabolism

Major Processes

A

Central Dogma

Replication
Transcription
Translation

126
Q

Informational metabolism

Subprocesses

A

Initiation
Chain elongation
Termination

127
Q
Pre-priming stage
Chain initiation
Chain elongation
Polymerization
Removal of primer
Sealing of nicks
A

Replication

128
Q

Unwinding of DNA by helicase
Binding of ssDNA-Binding Protein (DBP)
Formation of swivels by DNA topoisomerases

A

Pre-Priming Stage

129
Q

Synthesis of RNA primer by RNA polymerase and primase

A

Chain initiation

130
Q

Leading strand synthesized by

Single DNA strand replicates in the 3’ - 5’ direction

A

5’

RNA polymerase

131
Q

Lagging strand synthesized by

A

3’

Primase

132
Q

Synthesis of daughter strands

Synthesis proceeds in 5’ to 3’ direction

Addition of nucleotides by DNA polymerase III and I

A

Chain elongation

133
Q

Formation of daughter strands by DNA Polymerase I

Leading strands and lagging strands

A

Polymerization

134
Q

Lagging strands are also

short sequences of DNA nucleotides linked or joined by enzyme DNA ligase

A

Okazaki fragments

135
Q

Removal of RNA Primer

Replacement of RNA primer with DNA by DNA Polymerase I

A

Replication

136
Q

Transcription is facilitated by the enzyme

Synthesizes RNA primer during chain initiation

A

RNA polymerase

137
Q

mRNA is processed before leaving the nucleus

Non coding introns are removed

Remaining sections are spliced together -> functional mRNA

A

Processing

138
Q

Binding of RNA Polymerase to DNA template

Initiation of polymerization
Chain Elongation
Chain Termination

A

RNA Transcription

139
Q

Type I Antibiotic Transcription Inhibitors

Bind to RNA polymerase

A

Rifampicin

Streptolygidin

140
Q

Type II Antibiotic Transcription Inhibitor

Bind to DNA Template

A

Actinomycin D

141
Q

Type III Antibiotic Transcription Inhibitors

Inhibit topoisomerases/gyrase

A

Coumermycin
Nalidixic acid
Novobiocin
quinolone

142
Q

Swivel formation is caused by

A

DNA polymerase/topoisomerase

DNA gyrase

143
Q

sealing of nicks during replication is done by

also joins Okazaki fragments

A

DNA ligase

144
Q

Discontinuity in double stranded DNA

No phosphodiester bond

A

Nick

145
Q
Helicase unwinds DNA
SSB prevents reannealing
Primase makes primers 
DNA polymerase III adds additional base nucleotides extending primers
Lagging strand is made discontinuously
DNA Polymerase 1 removes primers
Okazaki fragments ligated by DNA ligase
Leading strand made continuously
A

DNA replication

146
Q

Spontaneous realignment of two single DNA strands to reform a double helix

A

Reannealing

147
Q

Prevents reannealing

A

SSB