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Aaron-Exit: Championship Rounds > Exit stuff-Biochem > Flashcards

Exit stuff-Biochem Flashcards

1
Q

Digoxin binds to the Na/K pump What drug binds to the K channels, with the same intention as Digoxin?

A

Ouabain

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2
Q

What type of mutation only in egg or sperm cells?

A

Gonadal Mosaicism

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3
Q

What is polyneutritis, symmetrical muscle wasting? What is high-output cardiac failure (dilated cardiomyopathy), edema?

A

Dry beriberi Wet beriberi

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4
Q

What deficiency has acrodermatitis enteropathica?

A

Zinc

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5
Q

If I ingest a crazy amount of egg whites, what vitamin goes bad?

A

Vitamin B7

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6
Q

What do microfilaments move with?

A

Muscle contraction –> actin, microvilli

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7
Q

Who is calcium dependent and independent? Cadherin and Selectin Integrins

A

Cadherin and Selectin –> calcium ion dependent Integrins –> calcium independent

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8
Q

What do intermediate filaments help with?

A

Maintain cell structure

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9
Q

What does Dynein cause microtubule transport direction? What does Kinesin move the microtubule?

A

Dynein –> retrograde Kinesin –> anterograde

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10
Q

What peroxisomal disease has scaly skin, ataxia, cataracts/night blindess, shortening of 4th toe, and epiphyseal dysplasia? Bad alpha oxidation

A

Refsum Disease

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11
Q

In the world of antibiotics: What causes the irreversible inhibition of initiation complex through binding of the 30S subunit, causes misreading of mRNA, blocks translocation? Am I bacteriostatic or bactericidal?

A

Aminoglycoside Bacteriocidal No anaerobic coverage here

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12
Q

What term describes female carriers variably affected depending on the pattern of inactivation of the X chromosome carrying the mutant vs normal gene?

A

Lyonization

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13
Q

Incomplete penetrance is what?

A

Not all individuals with a mutant genotype show a mutant phenotype

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14
Q

What three amino acids Elastin high in?

A

nonhydroxylated Proline, Glycine, and Lysine residues, remember collagen has hydroxylated amino acids

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15
Q

Breast fed only infants need what kind of supplementation?

A

vitamin D

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16
Q

What are the magic numbers for Robertsonian Translocation?

A

13, 14, 15, 21, and 22

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17
Q

Protein malnutrition with edema? Malnutrition not causing edema?

A

Kwashiorkor Marasmus

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18
Q

What inhibits RNA polymerase in both prokaryotes and eukaryotes?

A

Actinomycin D

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19
Q

What is another name for topoisomerase II?

A

Gyrase

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20
Q

Leber’s Hereditary and Optic Neutropathy are what type of Genetic issues?

A

Heteroplasmy –> normal and mutated mitochondria

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21
Q

What repeat is Myotonic type 1?

What are a few of the signs?

What chromosome is this?

A

CTG trinucleotide repeat

Cataracts, Toupee, and Gonadal atrophy

Chromosome 19

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22
Q

If the cross-linking of collagen step goes bad, what diseases can be caused?

A

Menkes, Ehlers-Danlos Syndrome

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23
Q

Collagen Type 1 is what? Collagen Type 2 is what?

A

Bone, skin, tendon, fascia Cartilage

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24
Q

What is one gene contributes to multiple phenotypic effects?

A

Pleiotropy

25
Q

Fragile X has what repeats? Friedreich ataxia has what repeats?

A

CGG GAA

26
Q

What drug is an anti-emetic agent that blocks the D2 receptor in the CTZ zone, not metochloperamide?

A

Prochlorperazine

27
Q

What is confusion, ophthalmoplegia, ataxia? Think vitamin deficiency

A

B1 Wernicke-Korsakoff Syndrome

28
Q

What peroxisomal disease has hypotonia, seizures, hepatomegaly, early death? The bad PEX gene

A

Zellweger Syndrome

29
Q

What type of mutation arises from mitotic errors after fertilization and propagates through multiple tissues or organs? P.S. Relatives and Parents do not have it

A

Somatic Mosaicism

30
Q

What does Wegner Disease have that Microscopic polyangiitis doesnt have?

A

granulomas and nasopharyngeal involvement

31
Q

Immunoglobulin A has abdominal pain, arthralgais, and palpable purpura on buttocks/legs: What GI condition is it associated with?

A

Intussusception

32
Q

Cilia have 9 doublet + 2 singlet arrangement no what in the middle?

A

No central Microtubules

33
Q

What do microtubules help with?

A

Clilia, flagella, mitotic spindle, axonal trafficking, centrioles

34
Q

Second trimesters quad screen shows what things are elevated for trisomy 21?

A

low alpha fetoprotein, high B-HCG, low Estriol, and High inhibin A

35
Q

Vasculitus: when we are a small vessel vasculitis, and come back positive for HLA-51, what two diseases could they be?

A

HSV or Parvovirus Behcet Syndrome

36
Q

A Collagen Type 3 problem is what? A Collagen Type 4 problem is what?

A

Ehlers-Danlos syndrome Alport syndrome –> targeted by auto-antibodies in GoodPasture’s syndrome

37
Q

What gene modification system can manipulate genes at specific development points?

A

Cre-lox System

38
Q

In the world of antibiotics: What blocks peptidyltransferase at 50S ribosomal subunit? Am I bacteriostatic or bactericidal?

A

Chloramphenicol Bacteriostatic Look out for Gray baby

39
Q

(Heterodisomy) Heterozygous indicates what kind of error? Isodisomy (homozygous) indicates what kind of error?

A

Both of these topics are uniparental disomy, genetic material came from only one parent Meiosis I –> error Meiosis II –> post zygotic chromosomal duplication

40
Q

What vasculitus shows up with heavy smokers?

A

Buerger Disease (Thromboangiitis)

41
Q

Uniparental disomy can be seen or is a cause for concern when what happens?

A

A child gets an autosomal recessive disease and only one parent is the carrier

42
Q

What do integrins bind too?

A

bind to fibronectin and laminin

43
Q

If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. This is not true with oncogenes. What genetic principle is this?

A

Loss of Heterozygosity

44
Q

Collagen Type 3 is what? Collagen Type 4 is what?

A

Reticulin –> skin and blood vessels Basement membrane –> basal lamina, lens

45
Q

N-oligosaccharides on what are modified via Golgi? O-oligosaccharides on what are modified via in the Golgi?

A

Asparagine Serine and Threonine

46
Q

Variable Expressivity is what?

A

Patients with the same genotype have varying phenotypes

47
Q

Dominant negative mutation is what?

A

exerts a dominant effect, a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning

48
Q

In the world of antibiotics: What inhibits binding of the 50S subunit, prevents formation of the initiation complex? Am I bacteriostatic or bactericidal?

A

Linezolid Variable (first aid)

49
Q

What disease is mixed cryoglobulinemia associated with? Palpable purpura, weakness, arthralgias

A

Hep C

50
Q

In the world of antibiotics: What inhibits protein synthesis by blocking translocation; binds to the 23S rRNA of the 50S ribosomal subunit? Am I bacteriostatic of bactericidal?

A

Macrolides Bacteriostatic

51
Q

Histones are rich in what two amino acids?

A

Lysine and Argine

52
Q

When collagen becomes Gly-X-Y? what is X and Y

A

Proline or Lysine

53
Q

Locus Heterogeneity is what?

A

Mutations at different loci can produce a similar phenotype Example is albinism

54
Q

Tendency for certain alleles at 2 linked loci to occur together more or less often that expected by chance. Measured in a population, no in a family, and often varies in different populations. What is this?

A

Linkage disequilibrium

55
Q

DDX Duchenne and Becker?

A

Duchenne: onset at 5 years old, frameshift mutation, severe Becker: onset at 15 years old, no frameshift mutation, not as severe

56
Q

What is different mutations in the same locus produce the same phenotype?

A

Allelic Heterogeneity Beta Thalassemia

57
Q

SMA has an issue on what chromosome?

A

Chromosome 5

58
Q

What is the immediate drug for iron?

A

Deferoxamine

59
Q

What is the immediate drug for lead/ mercury?

What is a glaring symptom for mercury poisoning?

A

Dimercaprol

Painful swallowing and Gingival inflammation

Aaron-Exit: Championship Rounds (27 decks)

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