Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Biochemistry > Biochem Review > Flashcards

Biochem Review Flashcards

(76 cards)

Start Studying
1
Q

Deamination of what pyrimidine makes what

A

Cytosine deaminated makes uracil. C to T transitions.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

3 Prime OH and 5 Prime Phosphate

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Ribonucleotide Reductase blocker (pyrimidines)

A

Hydroxyurea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Thymidyate synthase blocker

A

-Pyrimidines. 5-FU

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

DHFR Blocker

A

-Pyrimidines, SMX (TMP)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Purine Synthesis inhibitor

A
  • 6 Mercaptopurine (AZT). Interactions with allopurinol

- Physiologic inhibitors are elevated AMP, GMP, IMP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Purine Salvage Pathway Disease

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Purine Excretions Pathway

A
  • Gout
  • Xanthine oxidase leads to production of uric acid.
  • Treat with allopurinol to block pathway
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

DNA Pol exonuclease Activity

A

-Reverse of synthesis, 3 to 5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Nucleotide Excision Repair

A
  • Mutated in xeroderma pigmentosa
  • G0/G1
  • Pyrimidne dimers (UV)
  • Endonucleases
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Base Excision Repair

A
  • Repair Deamination (C to U)
  • Glycosylases
  • G0/G1
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Mismatch Repair

A
  • HNPCC
  • MLH/MSH
  • Occurs following replication G2
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Non Homologous End Joining

A

-Ataxia Telangectasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Homologous End Joining

A
  • BRCA

- DS Breaks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Stop Codons

A

UGA
UAA
UAG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Promoter

A
  • Upstream of gene, regulates transcription rate

- Mutations usually cause Decreased transcription

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

RNA Pol I

A

-Makes rRNA (most abundant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

RNA Pol II

A
  • Makes mRNA

- Inhibited by amantine (Mushrooms, hepatotoxicity)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

RNA Pol III

A

-Makes tRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

mRNA Processing

A
  • Occurs in Nucleus
  • Add 7 Methyl Guanine Cap (SAM)
  • Add Poly A tail
  • Splice out introns
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

snRNP

A

-Mediate Splicing in Nucleus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Splicing Mutation Disease

A

-B Thalesemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
tRNA
- AA binds to 3'OH - Amnio Acyl tRNA synthetase puts AA onto 3'OH - Tetracycline prevents aminoacyl tRNA attachment
26
Ribosomes in species
- 80 S human is 60 and 40 | - 70S bacteria is 50 and 30
27
Elongation of peptide sites
- Aminoacyl tRNA binds A site - P site is where peptide bond is catalyzed - E site is exit
28
Aminoglycosides
- Bind 30S and inhibit initiation | - cause misreading leads to cidal poperties
29
Macrolides
-Bind 50S and prevent exit from E site
30
Tetracyclines
-Bind 30S and prevent amino acyl tRNA from docking onto A site
31
Chloramphenicol
-Binds 50S and inhibits peptidation
32
Cell Cycle Progression
-G1 to S most highly regulated. p53 phosphorylates Rb and stops progression. hypo phosphorylated Rb leads to progression.
33
RER
- 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
Nissl Substance
-Increased RER in neurons because of secretion of large amounts of NT
35
SER
Lipids and Detox | Increased in Liver, Steroid producers
36
Golgi
-Processing and addition of sacharides (O) and modification of N
37
I Cell Disease
- 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
Cell Trafficking
- COPI retrograde - COPII anterograde - Clathrin PM
39
Peroxisome
-Long Chain FA metabolism
40
Adrenoleukodystrophy
- X Linked mutation in Beta Ox of long chain FA | - Adrenal Insufficency and peripheral and central neurologic defects. Deposition of FA in myelin
41
Proteasome
-Ubiquitin tagged (Small protein <100aa) with lysine
42
Ubiqutin Diseases
-Angelman: Imprinting (inactivation of maternally inhereted genes). Happy Puppet, retardation, siezures -VHL (Clear Cell, Pheo, Neuroendocrine) Fanconi Anemia: Blood Cell cancers -Maybe Alzheimers
43
Microtubule Based Drugs
- 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
Microtubule Associated Disease
- Chediak-Higashi - Can't make LYST, microtubule dependednt cargo sorting. - Increased pyogenic infections, Neuropathy, Albinism. - All from impaired vesicle tafficking
45
Cilia Disease
- Dysfunction in Dyenin - Karterengers - Situs Inversus, repeated respiratory infections and bronchiectasis. Infertile males and impaired fertile females.
46
Na/K ATPase drugs
- Digoxin inhbitis - Decreases gradient for Na and prevents Na/Ca exchanger - Ouabain also inhibits
47
Collagen I
Scars, bones, tendons | -OI impaired leads to brittle bones and blue sclera. Also deafness
48
Collagen II
-Cartillage and other viscous bodies (Eye, nucleus pulposus)
49
Collagen III
- Granulation tissue, blood vessels, skin | - Ehlers Danlos: Pain, impaired wound healing, joint hypermobility, Aortic Anyeurism
50
Collagen IV
Basement Membrane | -Defective in alports and anitbody to type 4 in goodpastures.
51
Collagen Synthesis
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
Osteogenesis Imperfecta
- Impaired Synthesis of collagen I. | - Hearing loss, brittle bones, blue sclera
53
Ehlers Danlos
- Collagen III defect | - Non healing wounds, Joint hypermobility, Joint dislocation, Berry anyeruism
54
Alports
- Collagen IV deficency - Nephritic syndrome and hearing loss - XR
55
Elastin Disease
- alpha 1 anti-trypsin deficency leads to emphysema from lost of elastin in lungs - Can't inhibiti elastase
56
Fibrillin
- Marfans | - Alters TGFB signaling. Normally acts as a sink for TGF-B, loss leads to elevated levels.
57
Examples of Codominance
-Blood Groups
58
Variable Expressivity
NF type 1 with varying severity
59
Incomplete penetrance
-not everyone with BRCA will get cancer
60
Pleiotropy
-PKU causes seemingly unrelated phenotypic expressions
61
Imprinting
``` Angelmans (siezures) Prader Willi (Obesity) ```
62
Anticipation
Huntingtons (CAG repeats) fragile X
63
Loss of heterozygosity
Li Fraumeni, Rb
64
Locus Heterogeneity
-Marfanoid habitus from many different causes. MEN2B, Homocystinuria, Marfans,
65
Heteroplasmy
-Variable expressivity in mitochondrial disease from different genetic alterations and different mitochondrial populations
66
Uniparental Disomy
Recessive disease with only a single parent being carrier
67
Achondropalsia
- AD - Activating mutation of FGF3 Receptor - No endochondral ossification leads to dwarfism
68
ADPKD
- Late onset cystic kidney | - Berry anyeurism, Liver cyst, mitral prolapse
69
FAP
-AD | Colon Cancer
70
Familial Hypercholesterolemia (IIA)
LDL receptor defect -1 copy is high cholesterol 2 copies is early death
71
Hereditery Hemorrhagic Telangectasia
- AD - Teleangectasia, epistaxis - AVM
72
Hereditery Spherocytosis
-ankyrin defect Increased MCHC (Round Cells) -Increased hemolysis, indirect bilirubin -Splenectomy reduces hemolysis
73
Huntington's
- CAG repeats | - Caudate atrophy
74
Marfans
- Fibrillin 1 misfolding - impaired TGF beta signaling - Many effects. Lens dislocation, aortic anyeurism
75
MEN
MEN 1: Pancrease, PTH, Pituitary MEN2A: ret, Medullary Thyroid and Pheo, PTH MEN2B:Medullary Thyroid, pheo, cutaneous neuroma
76
NF1
a

Biochemistry (4 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions