Biochem Review Flashcards

1
Q

Deamination of what pyrimidine makes what

A

Cytosine deaminated makes uracil. C to T transitions.

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2
Q

3 Prime OH and 5 Prime Phosphate

A

Repliation takes place 5 to 3. Read 3 to 5.

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3
Q

Ribonucleotide Reductase blocker (pyrimidines)

A

Hydroxyurea

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4
Q

Thymidyate synthase blocker

A

-Pyrimidines. 5-FU

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5
Q

DHFR Blocker

A

-Pyrimidines, SMX (TMP)

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6
Q

Carbamoyl Phosphate 1

A
  • Orotic Aciduria (distinguish between OTC (XR))
  • Inhibited pyrimidne synthesis leads to elevation in orotic acid. Megaloblastic Anemia that doesn’t correct with folate/b12 (pyrimidine synthesis)
  • Distinguish by no hyperammonemia/low BUN
  • Treat by giving uridine (blocks step)
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7
Q

Purine Synthesis inhibitor

A
  • 6 Mercaptopurine (AZT). Interactions with allopurinol

- Physiologic inhibitors are elevated AMP, GMP, IMP

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8
Q

Purine Salvage Pathway Disease

A

-HGPRT, mutations lead to lesch-Nyhan (XR). Severe gout, retard, death

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9
Q

Purine Excretions Pathway

A
  • Gout
  • Xanthine oxidase leads to production of uric acid.
  • Treat with allopurinol to block pathway
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10
Q

Purine Synthesis Pathway Disease

A
  • Adenosine Deaminase Deficency
  • SCID
  • Can’t deaminate adenosine to make inosine. Buildup of adenosine inhibits upstream steps. Halts purine synthesis.
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11
Q

DNA Pol exonuclease Activity

A

-Reverse of synthesis, 3 to 5

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12
Q

Nucleotide Excision Repair

A
  • Mutated in xeroderma pigmentosa
  • G0/G1
  • Pyrimidne dimers (UV)
  • Endonucleases
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13
Q

Base Excision Repair

A
  • Repair Deamination (C to U)
  • Glycosylases
  • G0/G1
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14
Q

Mismatch Repair

A
  • HNPCC
  • MLH/MSH
  • Occurs following replication G2
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15
Q

Non Homologous End Joining

A

-Ataxia Telangectasia

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16
Q

Homologous End Joining

A
  • BRCA

- DS Breaks

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17
Q

Stop Codons

A

UGA
UAA
UAG

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18
Q

Promoter

A
  • Upstream of gene, regulates transcription rate

- Mutations usually cause Decreased transcription

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19
Q

RNA Pol I

A

-Makes rRNA (most abundant)

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20
Q

RNA Pol II

A
  • Makes mRNA

- Inhibited by amantine (Mushrooms, hepatotoxicity)

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21
Q

RNA Pol III

A

-Makes tRNA

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22
Q

mRNA Processing

A
  • Occurs in Nucleus
  • Add 7 Methyl Guanine Cap (SAM)
  • Add Poly A tail
  • Splice out introns
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23
Q

snRNP

A

-Mediate Splicing in Nucleus

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24
Q

Splicing Mutation Disease

A

-B Thalesemia

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25
Q

tRNA

A
  • AA binds to 3’OH
  • Amnio Acyl tRNA synthetase puts AA onto 3’OH
  • Tetracycline prevents aminoacyl tRNA attachment
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26
Q

Ribosomes in species

A
  • 80 S human is 60 and 40

- 70S bacteria is 50 and 30

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27
Q

Elongation of peptide sites

A
  • Aminoacyl tRNA binds A site
  • P site is where peptide bond is catalyzed
  • E site is exit
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28
Q

Aminoglycosides

A
  • Bind 30S and inhibit initiation

- cause misreading leads to cidal poperties

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29
Q

Macrolides

A

-Bind 50S and prevent exit from E site

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30
Q

Tetracyclines

A

-Bind 30S and prevent amino acyl tRNA from docking onto A site

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31
Q

Chloramphenicol

A

-Binds 50S and inhibits peptidation

32
Q

Cell Cycle Progression

A

-G1 to S most highly regulated. p53 phosphorylates Rb and stops progression. hypo phosphorylated Rb leads to progression.

33
Q

RER

A
  • Secreted and TM proteins, SRP.
  • Golgi to be processed
  • N glycolylation takes place in ER
  • Increased in Goblet Cells and Plasma Cells
  • Collagen Hydroxylation
34
Q

Nissl Substance

A

-Increased RER in neurons because of secretion of large amounts of NT

35
Q

SER

A

Lipids and Detox

Increased in Liver, Steroid producers

36
Q

Golgi

A

-Processing and addition of sacharides (O) and modification of N

37
Q

I Cell Disease

A
  • No M6P which is target for lysosome from Golgi
  • Increased plasma lysosomal enzymes, clouded corneas, joint problems. Fatal in childhood
  • Histology shows large swollen inclusions in lysosomes.
38
Q

Cell Trafficking

A
  • COPI retrograde
  • COPII anterograde
  • Clathrin PM
39
Q

Peroxisome

A

-Long Chain FA metabolism

40
Q

Adrenoleukodystrophy

A
  • X Linked mutation in Beta Ox of long chain FA

- Adrenal Insufficency and peripheral and central neurologic defects. Deposition of FA in myelin

41
Q

Proteasome

A

-Ubiquitin tagged (Small protein <100aa) with lysine

42
Q

Ubiqutin Diseases

A

-Angelman: Imprinting (inactivation of maternally inhereted genes). Happy Puppet, retardation, siezures
-VHL (Clear Cell, Pheo, Neuroendocrine)
Fanconi Anemia: Blood Cell cancers
-Maybe Alzheimers

43
Q

Microtubule Based Drugs

A
  • Mebednazole - Antihelminth
  • Griseofulvin - Anti Fungal
  • Vincristine/blastine - prevent polymerization (anti-cancer)
  • Paclitaxel - Prevent repolymerization (anti-Cancer)
  • Cochicine - Prevent Inflammation and ingestion of urate crystals in gout
44
Q

Microtubule Associated Disease

A
  • Chediak-Higashi
  • Can’t make LYST, microtubule dependednt cargo sorting.
  • Increased pyogenic infections, Neuropathy, Albinism.
  • All from impaired vesicle tafficking
45
Q

Cilia Disease

A
  • Dysfunction in Dyenin
  • Karterengers
  • Situs Inversus, repeated respiratory infections and bronchiectasis. Infertile males and impaired fertile females.
46
Q

Na/K ATPase drugs

A
  • Digoxin inhbitis
  • Decreases gradient for Na and prevents Na/Ca exchanger
  • Ouabain also inhibits
47
Q

Collagen I

A

Scars, bones, tendons

-OI impaired leads to brittle bones and blue sclera. Also deafness

48
Q

Collagen II

A

-Cartillage and other viscous bodies (Eye, nucleus pulposus)

49
Q

Collagen III

A
  • Granulation tissue, blood vessels, skin

- Ehlers Danlos: Pain, impaired wound healing, joint hypermobility, Aortic Anyeurism

50
Q

Collagen IV

A

Basement Membrane

-Defective in alports and anitbody to type 4 in goodpastures.

51
Q

Collagen Synthesis

A
  1. Translated into ER gly-x-y (Usually proline and lysine)
  2. Hydroxylation in ER, vitamin C dependent. Usually proline and lysine residues
  3. Glycosylation and triple helix formation in ER (imparied in OI)
  4. Exocytosis of Procollagen
  5. Clevage of terminal ends
52
Q

Osteogenesis Imperfecta

A
  • Impaired Synthesis of collagen I.

- Hearing loss, brittle bones, blue sclera

53
Q

Ehlers Danlos

A
  • Collagen III defect

- Non healing wounds, Joint hypermobility, Joint dislocation, Berry anyeruism

54
Q

Alports

A
  • Collagen IV deficency
  • Nephritic syndrome and hearing loss
  • XR
55
Q

Elastin Disease

A
  • alpha 1 anti-trypsin deficency leads to emphysema from lost of elastin in lungs
  • Can’t inhibiti elastase
56
Q

Fibrillin

A
  • Marfans

- Alters TGFB signaling. Normally acts as a sink for TGF-B, loss leads to elevated levels.

57
Q

Examples of Codominance

A

-Blood Groups

58
Q

Variable Expressivity

A

NF type 1 with varying severity

59
Q

Incomplete penetrance

A

-not everyone with BRCA will get cancer

60
Q

Pleiotropy

A

-PKU causes seemingly unrelated phenotypic expressions

61
Q

Imprinting

A
Angelmans (siezures)
Prader Willi (Obesity)
62
Q

Anticipation

A

Huntingtons (CAG repeats) fragile X

63
Q

Loss of heterozygosity

A

Li Fraumeni, Rb

64
Q

Locus Heterogeneity

A

-Marfanoid habitus from many different causes. MEN2B, Homocystinuria, Marfans,

65
Q

Heteroplasmy

A

-Variable expressivity in mitochondrial disease from different genetic alterations and different mitochondrial populations

66
Q

Uniparental Disomy

A

Recessive disease with only a single parent being carrier

67
Q

Achondropalsia

A
  • AD
  • Activating mutation of FGF3 Receptor
  • No endochondral ossification leads to dwarfism
68
Q

ADPKD

A
  • Late onset cystic kidney

- Berry anyeurism, Liver cyst, mitral prolapse

69
Q

FAP

A

-AD

Colon Cancer

70
Q

Familial Hypercholesterolemia (IIA)

A

LDL receptor defect
-1 copy is high cholesterol
2 copies is early death

71
Q

Hereditery Hemorrhagic Telangectasia

A
  • AD
  • Teleangectasia, epistaxis
  • AVM
72
Q

Hereditery Spherocytosis

A

-ankyrin defect
Increased MCHC (Round Cells)
-Increased hemolysis, indirect bilirubin
-Splenectomy reduces hemolysis

73
Q

Huntington’s

A
  • CAG repeats

- Caudate atrophy

74
Q

Marfans

A
  • Fibrillin 1 misfolding
  • impaired TGF beta signaling
  • Many effects. Lens dislocation, aortic anyeurism
75
Q

MEN

A

MEN 1: Pancrease, PTH, Pituitary
MEN2A: ret, Medullary Thyroid and Pheo, PTH
MEN2B:Medullary Thyroid, pheo, cutaneous neuroma

76
Q

NF1

A

a