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Medicine > Genetics Part 1 > Flashcards

Genetics Part 1 Flashcards

1
Q

WhaT are the four primary structures of DNA?

A

Nucleosides, nucleotides, nucleic acids, and a phosphate backbone

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2
Q

What are the components of a nucleoside?

A

Sugar and a Base

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3
Q

What are the components of a nucleotide?

A

Sugar, base, and a phosphate backbone

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4
Q

Where are nucleotides incorporated in?

A

Incorporated into DNA/RNA

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5
Q

What are nucleic acids?
-Examples?

A

Long polymers of nucleotides
-DNA and RNA

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6
Q

What gives DNA its (-) charge?

A

The phosphate backbone

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7
Q

What are the two types of purines?

A

Adenine and guanine

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8
Q

What are the three types of pyrimidines?

A

Cytosine, thymine, and uracil

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9
Q

Base pairing in DNA/RNA occurs between what two structures?

A

between on pyrimidine and one purine

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10
Q

Which bond in DNA is stronger than the other?

A

G-C bonds are stronger than A-T

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11
Q

How many H bonds are in a G-C bond?

A

Three

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12
Q

Where are nucleotides added on a strand of DNA?

A

To the 3’ end of the DNA

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13
Q

DNA polymerase undergoes what kind of reaction for cell division?

A

Condensation reaction

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14
Q

What makes RNA vulnerable to hydrolysis?

A

2’-OH

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15
Q

which is easier to break, a strand with less G-C bonds and MORE A-T bonds or a strand with MORE G-C bonds and less A-T bonds?

A

Strand with less G-C bonds

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16
Q

Purine bases are synthesized from?

A

Amino acids

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17
Q

Where does purine synthesis occur?

A

In the cytosol

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18
Q

Purine syntehsis is most important for what process?

A

rapidly dividing cells

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19
Q

What are the reactions of Purine synthesis?

A

Ribose-5-phosphate from the pentose phosphate pathway, glutamine, glycine, and aspartate

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20
Q

What are the products of purine synthesis?

A

AMP, GMP, IMP, and Uric Acid

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21
Q

Where is IMP NOT used?

A

DNA

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22
Q

IMP is an __________ in the purine synthesis pathway

A

intermediate

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23
Q

What are the 6 key enzymes of purine synthesis?

A

PRPP Synthetate, PRPP amidotransferase, IMP dehydrogenase, HGPRT, APRT, and Xanthine oxidase

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24
Q

What does PRPP stand for?

A

Phosphoribosyl pyrophosphatase

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25
Q

What does IMP stand for?

A

Inosine monophosphate

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26
Q

What does HGPRT stand for?

A

Hypoxanthine-huanine phosphoribyl transfersase

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27
Q

What does APRT stand for?

A

Adenine phosphoribosyl transferase

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28
Q

Going down the from the Pentose phosphate pathway, for Ribose-5-phosphate to become PRPP, what key enzyme is needed?

A

PRPP synthetase

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29
Q

For PRPP to become the intermediate IMP, what key enzymes are needed?

A

Glutamine and PRPP Amidotransferase

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30
Q

What are inhibitors of the PRPP transition to IMP?

A

IMP,GMP,AMP

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31
Q

What enzyme is needed for IMP to become AMP?

A

GTP

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32
Q

What reactants are needed for IMP to become GMP?

A

IMP dehydrogenase and ATP

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33
Q

What does IMP become going down the purine pathway?

A

Inosine

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34
Q

Can adenine become Hypoxanthine directly?

A

No

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35
Q

How does Hypoxanthine get made from the adenosine pathway?

A

Adenosine gets converted to Inosine with the help of Adenosine deamylase. Inosine creates hypoxanthine

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36
Q

What enzyme is needed for Inosine to become Guanosine?

A

HGPRT

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37
Q

Can guanosine become Inosine?

A

Yes

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38
Q

How do nucleotides become nucleosides?

A

They lose the phosphate backbone

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39
Q

How do nucleosides become nitrogenous bases?

A

They lose a ribose

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40
Q

What is the pathway of IMP to AMP and its products?

A

IMP becomes AMP with the help of GTP, AMP then becomes Adenosine after losing a phosphate and eventually Adenine by losing a ribose

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41
Q

How does IMP become GMP and its products?

A

IMP becomes GMP with the help of ATP and IMP dehydrogenase, GMP then becomes Guanosine after losing a phosphate, and then becomes guanine after losing a ribose and can reach another product of Xanthine

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42
Q

Adenine can become what previous reactant with the help of an enzyme?
-What is the enzyme?

A

Adenine can become AMP by the enzyme APRT

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43
Q

How does Guanine become GMP?

A

Guanine can become GMP with the help of the enzyme HGPRT

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44
Q

What historical reactant can hypoxanthine become?
-what enzyme helps with this?

A

Hypoxanthine can re-become IMP with the help of HGPRT

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45
Q

What is the rest of the purine pathway starting from Hypoxanthine?
-Include the reactants used!

A

Hypoxanthine becomes Xanthine with the help of xanthine oxidase, Xanthine can then become uric acid with the help of Xanthine oxidase.

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46
Q

What is the pathopysiology of Lesch-nyhan syndrome?
-Autosomal ____

A

HGPRT deficiency
-Autosomal recessive

47
Q

What are the symptoms of Lesch-nyhan syndrome?

A

Hyperuricemia, self mutilation (e.g biting the insides of cheeks), gout, random muscle contraction, and intellectual disability

48
Q

What is the pathophysiology of SCID effect in purine pathways?
-Autosomal ____

A

its an Adenosine deaminase deficiency
-autosomal recessive

49
Q

What are the complications with SCID?

A

Recurrent infections

50
Q

With gout, theres an ________ or ________ of uric acid

A

Overproduction or undersecretion

51
Q

What are the three Xanthine oxidase inhibitors?

A

Allopurinol, febuxostat, and treatment of gout/hyperuricemia

52
Q

What are the two PRPP amidotransferase inhibitors?

A

6-mercaptopuyrine and Azathioprine

53
Q

Between xanthine oxidase inhibitors and PRPP amidotransferase inhibitors, which cause immunosuppression?

A

Both

54
Q

Azathioprine is metabolized into what in the body?

A

6-mercaptopurine (6MP)

55
Q

What activates azathiopine and 6MP medications?

A

HGPRT

56
Q

What are oxidase inhibitors and amidotransferase inhibitors metabolized by?

A

Xanthine oxidase

57
Q

Should a patient be on XO inhibitors AND amidotransferase inhibitors?

A

No, its contraindicated

58
Q

What are the two IMP dehydrogenase inhibitors learned?

A

Mycophenolate mofetil, and ribavirin

59
Q

What is mycophenolate mofetil used for?

A

Its used for immunosuppression

60
Q

What is ribavirin used for?

A

Its an antiviral (e.g Hep C)

61
Q

What does excessive activity of xanthine oxidase cause?

A

Gout

62
Q

Where does pyrimidine synthesis occur?

A

in the cytoplasm

63
Q

What is pyrimidine synthesis most important for?

A

Rapidly dividing cells

64
Q

What are the 6 important enzymes in pyrimidine synthesis?

A

CPS II, CPS I, UMP synthase, ribonucleotide reductase, thymidylate synthase, and Dihydrofolate reductase

65
Q

what enzyme regenerates THF?

A

Dihydrofolate reductase

66
Q

What are the three reactants of pyrimidine synthesis?

A

Ribose-5-phosphate, glutamine, and aspartate

67
Q

What are the products of pyrimidine synthesis?

A

Uracil, thymine, and cytosine

68
Q

what are the products of the purine synthesis pathway?

A

Adenine, guanine, and uric acid

69
Q

Where does CPS II work?

A

In the cytosol

70
Q

Where does CPS I work?

A

in the mitochondria (urea cycle)

71
Q

What enzyme helps Glutamine become carbamoyl phosphate?

A

Carbamoyl phosphate synthetase II

72
Q

What enzyme helps carbamoyl phosphate become orotic acid?

A

Aspartate

73
Q

What enzymes help with converting orotic acid into UMP?

A

UMP synthase and PRPP

74
Q

What does UMP become down the pyrimidine pathway?
-What helps convert them?

A

UDP
-Nucleoside monophosphate kinase (NMKs)

75
Q

What enzyme helps convert UDP to dUDP?

A

Ribonucleotide reductase

76
Q

What enzyme helps convert dUMP to dTMP?

A

Thymidylate synthase and N5N10-Methylene-THF

77
Q

When N5N10-Methylene-TNF donates to dUMP, what does it then become?

A

DHF

78
Q

With the help of what enzyme does DHF become THF?

A

Dihydrofolate reductase

79
Q

In pyrimidine synthesis, what is the pathway and its constituents starting from Glutamine down to UDP?

A

1.)Glutamine becomes Carbomoyl phosphate with the help of Carbamoyl phosphate synthetase II
2.) Carbamoyl Phosphate becomes orotic acid with the help of Aspartate
3.) orotic acid becomes UMP with the help of both UMP synthase AND PRPP
4.) UMP becomes UDP with the help of nucleoside monophosphate kinase

80
Q

In pyrimidine synthesis, what is the pathway starting from UDP to dTMP?

A

1.) UDP is converted to dUDP with the help of Ribonucleotide reductase
2.) dUDP becomes dUMP
3.) dUMP becomes dTMP with the help of Thymidylate synthase and N5N10-methylene-THF

81
Q

What is the modified form of THF?

A

Thymidylate synthase

82
Q

Where does the PRPP come from to help in the pyrimidine pathway?

A

From the pentose phosphate pathway

83
Q

What is the pathophysiology of Grotic aciduria?

A

its a UMP synthase deficiency

84
Q

What are the lab values of a patient with Grotic aciduria?
- Serum orotic acid
- Urine orotic acid
- Ammonia

A

elevated serum orotic acid and in urine; normal ammonia

85
Q

In an ornithine transcarbamylase deficiency, what is the effect on ammonia?

A

elevation in ammonia

86
Q

What are the symptoms of Grotic aciduria?

A

Failure to thrive, megaloblastic anemia, orange crystals in diapers

87
Q

Treatment of UMP or Uridine triacetate restores ______

A

UMP

88
Q

What are the three Dihydrofolate reducase inhibitors?

A

Methotrexate, Trimethoprim, and Pyrimethamine

89
Q

What is the other MOA of methotrexate?

A

Immunosuppression, rheumatoid arthritis, chemo and abortifactant

90
Q

What is another MOA of Trimethoprim?

A

Antibiotic, inhibits bacterial dihydrofolate reductase

91
Q

What is another MOA of Pyrimethamine?

A

Anti-protozoal

92
Q

What is the MOA of Leucovorin? (pyrimidine pharm)

A

Folinic acid, bypasses dihydrofolate reductase

93
Q

(pyrimidine pharm) What are the two Thymidylate Synthase inhibitors?

A

5-Fluorouracil and capecitabine (prodrug of 5-FU)

94
Q

(pyrimidine pharm)What is 5-fluorouracils other MOA?

A

Chemotherapy

95
Q

What is one ribonucelotide reducase inhibitor?

A

Hydroxyurea

96
Q

Whats other MOA’s or uses of ribonucelotide reducase?

A

Sickle cell anemia and immunosuppression

97
Q

What is the role of Leflunomide?

A

its a dihydroorotate dehydrogenase inhibitor (makes rUMP)

98
Q

What other pathology can Leflunomide be used in?

A

Rheumatoid arthritis

99
Q

What histones are located in the (+) core of the histone?

A

H2A,H2B,H3,and H4

100
Q

What amino acids create a positive charge in the histone?

A

Lysine and arginine

101
Q

What protein links histones together?

A

H1 linker protein

102
Q

When DNA wraps around histones, what does this create?

A

Nucleosomes

103
Q

Many nucleosomes wound tightly together creates?

A

Chromatin

104
Q

What usually unwounds chromatin in the nucleus?

A

DNA

105
Q

DNA will condense into _________ before what process?

A

Chromosomes before mitosis

106
Q

What are the characteristics of Euchromatin?

A

less compact, “beads on a string”, easily transcribed

107
Q

what are the characteristics of Heterochroatin?

A

More compact, darker on microscope, gene-poor/less transcribed

108
Q

During methylation, where is the methyl group added? On what?

A

Added to C5 of cytosine

109
Q

What does methylation do to DNA?

A

it mutes it, causing it to not be expressed

110
Q

Acetylation in DNA is the removal of?

A

The (+) charge on a histone

111
Q

Histones that are less positive cause DNA to?

A

bind less tightly

112
Q

What results more if DNA has looser coils?

A

Transcription

113
Q

What process between methylation and acetylation activates DNA Transcription?

A

Acetylation

Medicine (10 decks)

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