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EOB Flashcards

1
Q

Heterochromatin

A

Transcriptionally inactive
Highly condensed
Dark on Em

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2
Q

Euchromatin

A

Transcriptionally active
Less condensed
Light on EM

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3
Q

Purine atom origin

A 
Glycine
Glutamine
Aspartate
N10 formyl THF
CO2
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4
Q

Adenosine Deaminase Deficiency

A

Defect in Adenosine Deaminase
Leads to SCID
Increase in dATP –> ribonucleotide reductase inhibited –> no DNA synthesis

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5
Q

Lesch Nyhan

A

Defect in HGPRT

Hyperuricemia, gout, pissed off, retardation, dystonia

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6
Q

Helicase

A

Unwinds DNA template at replication fork

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7
Q

DNA topoisomerases

A

Create single/double stranded break in helix

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8
Q

Fluoroquinolones

A

Inhibit prokaryotic Topoisomerase II and IV

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9
Q

DNA Polymerase III

A

Elongates leading strand

3’-5’ exonuclease activity proofreads each nucleotide

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10
Q

DNA ligase

A

Joins Okazaki fragments

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11
Q

Telomerase

A

Adds DNA to 3’ end to avoid loss of genetic material

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12
Q

Silent Mutation

A

Base change results in same AA

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13
Q

Missense mutation

A

Base change results in new AA

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14
Q

Nonsense mutation

A

Base change results in stop codon

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15
Q

Low glucose and lac operon

A

Low glucose –> Increased AC activity –> cAMP –> CAP –> transcription

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16
Q

High lactose and lac operon

A

Lactose unbinds repressor protein and induces transcription

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17
Q

Nucleotide excision repair

A

Endonucleases that release oligonucleotides with damaged bases

G1 phase of cell cycle

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18
Q

Base excision repair

A

Removes altered base and creates AP site
AP endonuclease cleaves 5’ end, lyase cleaves 3’ end –> gap filled by DNA polymerase Beta

Occurs throughout cell cycle

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19
Q

RNA polymerase I

A

rRNA

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20
Q

RNA polymerase II

A

mRNA

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21
Q

RNA polymerase III

A

tRNA

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22
Q

Post transcriptional RNA processing

A

5’ cap
Polyadenylation
Splicing out of introns

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23
Q

Splicing

A
  1. snRNP’s join and form splicesome
  2. Lariat shaped intermediate
  3. Lariat released, exons joined together
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24
Q

Microfilaments

A

6-8nm
Actin helices
Cell extension/movement

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25
Intermediate filaments
8-10nm | Cell structure
26
Microtubules
20-25nm | Movement, cell division
27
Osteogenesis imperfecta
Brittle bone disease Decreased type 1 collagen Blue sclera
28
Ehlers Danlos
Faulty collagen synthesis --> hyperflexibility
29
Southern Blot
DNA
30
Western Blot
Protein
31
Northern Blot
RNA
32
FISH
Fluorescent probe binds to specific gene site | Fluorescence = present gene
33
Prader Willi
Maternal imprinting | Occurs when PATERNAL gene is MISSING
34
Angelman syndrom
Paternal imprinting | Occurs when MATERNAL gene is MISSING
35
Trisomy 21
Down's syndrome
36
Trisomy 18
Edward's syndrome Early death
37
Trisomy 13
Patau Cleft palate, early death
38
Robertsonian translocation
Long arms fuse at centromere and short arms are lost Unbalanced translocations = miscarriage, stillbirth, chromosomal imbalance
39
Fat soluble vitamins
A, D, E, K
40
Water soluble vitamins
B1,2,3,5,6,7,9,12 Vit C
41
Vitamin A function
Antioxidant, cell differentiation and protein synthesis
42
Vitamin A deficiency
Nightblindness, loss of mucous membrane and skin integrity, immunosupression
43
Vit B1 function
Thiamin | Cofactor: PDH, Transketolase, A-KG
44
Vit B1 deficiency
Impaired glucose breakdown --> ATP depletion
45
Beri Beri (dry)
Difficulty walking, vomiting, pain, lower muscle function
46
Beri Beri (wet)
Cardiac issues | Edema
47
Wernicke-Korsakoff
Neurological | Ataxia, confabulation, memory loss
48
Vitamin B2 function
Riboflavin | Components of Flavin (FMN, FAD)
49
Vitamin B3 function
Niacin NAD and NADP Lowers VLDL and raises HDL
50
Vitamin B3 deficiency
Pellagra | Dermatitis, diarrhea, dementia, death
51
Vitamin B5
Panthotenic Acid --> CoA
52
Vitamin B6 function
Pyridoxine Cofactor for transamination, decarboxylations, glycogen phosphorylase
53
Vitamin B7 function
Biotin Cofactor: Pyruvate carboxylase, Acetyl CoA carboxylase, Propionyl CoA carboxylase
54
Vitamin B9
Folate --> THF
55
Vitamin C
Ascorbic acid | Antioxidant, Immune system, collagen synthesis
56
Scurvy
Vit C deficiency Swollen gums, brusing, petechiae, anemia, poor wound healing Weakened immune system
57
Fomepizole
Inhibits Alcohol dehydrogenase
58
Metabolism in Mitochondria
Fatty acid oxidation Acetyl CoA production TCA cycle Oxidative phosphorylation
59
Metabolism in cytoplasm
Glycolysis Fatty acid synthesis HMP shunt Protein Synthesis (RER)
60
Metabolism in cytoplasm AND mitochondria
heme synthesis, urea cycle, gluconeogenesis
61
PFK-1 activators/inhibitors
Activators: AMP, F-2,6-BP Inhibitors: ATP, citrate
62
F-1,6-BPase activators/inhibtors
Activator: ATP, Acetyl CoA Inhibitors: AMP, F 2,6 BP
63
Isocitrate DH A/I
Activator: ADP Inhibitor: ATP, NADH
64
Carbamoyl Phosphate synthetase II A/I
Activator: ATP Inhibitor: UTP
65
Carbamoyl phosphate synthetase I A/I
Activator: N-acetylglutamate
66
Acetyl CoA carboxylase A/I
Activator: Insulin, citrate Inhibitor: Glucagon, Palmitoyl CoA
67
Carnitine Acyl Transferase I A/I
Inhibitor: Malonyl CoA
68
PDH deficiency
X linked | Buildup of pyruvate --> lactate and alanine
69
Electron transport inhibitors
Direct inhibition. Decrease H+ gradient and block ATP synthesis
70
Rotenone
Blocks Complex 1 activity
71
Cyanide, CO
Blocks Complex IV activity
72
Antimycin A
Blocks complex II activity
73
Oligomycin
ATP synthase inhibitor
74
2,4 DNP
Uncoupler Increase membrane permeability, decrease H+ gradient, increase O2 consumption ATP synthesis stops, e- transport continues Heat generated
75
Essential fructosuria
Fructokinase defect, autosomal recessive Fructose in blood and urine
76
HFI
Defect in aldolase B Buildup of F1P --> decrease of phosphate --> decrease glycogenolysis and gluconeognesis Positive reducing sugar test, negative urine dipstick test Hypoglycemia
77
Classical Galactosemia
Gal-1-P uridyltransferase defect | Buildup of Gal-1-P --> galctitol --> cataracts
78
Non classical Galactosemia
Galactokinase deficiency Galctitol accumulation, galactose in blood and urine
79
Von Gierke disease
G-6-Pase deficiency | Severe fasting hypoglycemia, increase glycogen in liver
80
Pompe Disease
Lysosomal alpha 1,4 glucosidase | Cardiomegaly, early death
81
Cori disease
Debranching enzyme deficiency | Fasting hypoglycemia
82
McArdle's disease
Muscle glycogen phosphorylase deficiency | Painful muscle cramps with exercise, cant break down glycogen for use
83
Fabry's disease
Buildup of Cer-Glu-Gal-Gal
84
Gaucher's disease
Buildup of glucocerebroside (Cer-Glu)
85
Niemann Pick
Buildup of Sphingomyelin | Defect in sphingomyelinase
86
Tay Sachs
Defect in Hexosaminidase A | Buildup of GM2
87
Krabbe disease
Buildup of Galactocerebroside
88
Metachromatic Leukodystrophy
Buildup of Cerebroside sulfate
89
Farber's disease
Defect in ceramidse | Buildup of Ceramide
90
MCAD
Autosomal recessive disorder of fatty acid oxidation Inability to break down fatty acids Vomiting, lethargy, seizures, coma
91
Collagen synthesis
1. Synthesis - Gly-X-Y 2. Hydroxylation (Requires Vit C) 3. Glycosylation (Procollagen formed) - Problem forming triple helix = osteogenesis imperfecta 4. Exocytosis
92
Marfan syndrome
Defect in fibrillin
93
Rickets
Vitamin D deficiency
94
Huntington's disease
Trinucleotide repeat disorder (CAG)

FoMM (5 decks)

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