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Step 1 Review > Biochem High Yield > Flashcards

Biochem High Yield Flashcards

1
Q

What is the mechanism of leflunomide?

A

inhibits dihydrofolate dehydrogenase

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2
Q

What is the mechanism for mycophenolate and ribavirin?

A

Inhibits IMP dehydrogenase

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3
Q

What is the mechanism of hydroxyurea?

A

inhibits ribonucleotide reductase

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4
Q

What is teh mecahnism of 6MP?

A

inhibits de novo purine synthesis

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5
Q

What is the mechanism of 5- FU?

A

inhibits thymidylate synthase

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6
Q

What is the mechanism of methotrexate and methoprim and pyrimethamine?

A

inhibits dehydrofolate reductase

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7
Q

“defective purine salvage due to absent HGPRT”

A

Lesch- Nyhan syndrome

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8
Q

What is the function of HGPRT?

A

Converts hypoxanthine to IMP and guanine to GMP

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9
Q

What are teh 5 symptoms of Lesch- Nyhan syndrome?

A 
Hyperuricemia
Gout
Aggression/ self mutilation
Retardation
Dystonia
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10
Q

Enzyme that unwinds prokaryptic DNA for repliction?

A

Helicase

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11
Q

What is the function of DNA topoisomerase?

A

creates single or double stranded break

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12
Q

Synthesis and proofreading directions of bacterial DNA polymerase III?

A

Synthesis= 5–>3

Proofread= 3–>5

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13
Q

What degrades RNA primer in DNA of bacteira?

A

DNA polymerase I

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14
Q

What enzyme joins okazaki fragment?

A

DNA ligase

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15
Q

“mutation that causes a changes amino acid”

A

missense

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16
Q

“mutation that leads to early stop codon”

A

nonsense mutation

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17
Q

What repair mechanism is defective in xeroderma pigmentosum?

A

Nucleotide excision repair (prevents repair of pyrimidine dimers from UV light exposure)

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18
Q

What repair mechanism is defective in HNPCC?

A

mismatch repair

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19
Q

What DNA repair mechanism is defective in ataxia telangiectasia?

A

Nonhomologous end joining

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20
Q

Name 3 stop codons?

A

UGA
UAA
UAG

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21
Q

What binds the promoter region in eukaryotes for gene expression?

A

RNA polymerase II

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22
Q

What does Amanita phalloides (death cap mushroom) inhibit?

A

RNA polymerase II (eukaryotes)

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23
Q

What post transcriptional alterations occur in the nucleus?

A

1- 5’ cap
2- Poly A tail
Splicing of introns

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24
Q

What molecule is responsible for splicing of pre-mRNA?

A

snRNP complex

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25
Q

What is the T arm on tRNA necessary for?

A

tRNA ribosomal binding

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26
Q

What is the anti-codon loop needed for?

A

Binding the codon on the mRNA

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27
Q

Where does the AA bind tRNA?

A

3’ end (ACC)

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28
Q

What is the D arm of tRNA needed for?

A

recognized by aminoacul- tRNA synthase

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29
Q

What is the initator tRNA?

A

Methionine (AUG)

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30
Q

What does initiation need in order to occur?

A

GTP hydrolysis

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31
Q

What molecule catalyzes peptide bond formation in protein synthesis?

A

rRNA

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32
Q

What energy molecule is needed for translocation?

A

GTP

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33
Q

What are chaperone proteins needed for?

A

facilitate/ maintain protein folding

34
Q

What phase transition of the cell cycle do p53 and hypophosphorylated Rb inhibit?

A

G1 to S progression

35
Q

Where does RER add oligosaccharide?

A

N- linked!

36
Q

What cell types are rich in RER?

A

mucus seccreting goblet cells of the small intestine and antibody secreting cells

37
Q

What modifications and additions does the golgi make?

A

Modifies N oligosacharrides on asparagine

Adds O- oligosacchraides on serine and threonine

Adds mannose-6- phosphagte for trafficking to lysosomes

38
Q

What signal is needed to traffic protein to lysosomes?

A

M-6-P

39
Q

What is I cell disease?

A

inherited lysosomal storage disease

40
Q

What is the defect in I cell disease?

A

N- acetylglycosaminyl-1 transferase fails to phosphorylate mannose residues… no trafficking to lysosomes

41
Q

What trafficks proteins to the RER?

A

Signal recognition particle

42
Q

What structure degrades damaged or ubiquitin tagged proteins?

A

Proteasome

43
Q

What are each of the following a marker for?

Vimentin
Desmin
Cytokeratin
GRAP
Neurofilaments
A

Vimentin- CT

Desmin- muscle

Cytokeratin- epithelial cells

GFAP- meuroglia

Neurofilaments- Neurons

44
Q

“infertility, dextrocardia, bronchiectasis/ recurrent sinusitus”

A

Kartagener syndrome

45
Q

What type of collagen make sup bone, skin, tendon cornea, and late wound repair?

A

Type I

46
Q

What type of collagen is basement membranes, basal lamina, and lens of the eye?

A

Type IV

47
Q

What type of collagen is in skin, blood vessels, early scar formation?

A

Type III

48
Q

What type of collagen is cartilage, vitreous body and nucleus populus?

A

Type II

49
Q

Which type of collagen is affected in Ehlers- Danlos syndrome?

A

Type III

50
Q

Which type of collagen is defective in Alport syndrome?

A

Type IV

51
Q

Which type of collagen is targeted by autoantibodies in Good pasture syndrome?

A

Type IV

52
Q

Collagen is 1/3 composed of….

A

glycine!

53
Q

What is the form of collagen when it leaves the fibroblast?

A

Procollagen

54
Q

What does hydroxulation of preprocollagen requires…

A

vitamin C

55
Q

What is defective in osteogenesis imperfecta?

A

Decreased productino of otherwise formal type I collagen

56
Q

Name 4 symptoms of osteogenesis imperfecta?

A

1- blue sclerae
2- multiple fratures
3- teeth problems
4- hearing loss

57
Q

Inheritance pattern of ehlers danlos?

A

AD or AR

58
Q

“X linked recessive CT disease caused by impaired copper absorption and transport due to defected menkes protein”

A

Menkes disease

59
Q

What residues is elastin rich in?

A

nonhydroxylated proline, glycine and lysine residues

60
Q

What is defecctive in marfan syndrome?

A

Fibrillin (sheath around elastin)

61
Q

3 steps of PCR?

A

Denaturing
Annealing
Elongating

62
Q

Southern blot?

A

DNA

63
Q

Northern blot?

A

RNA

64
Q

Western blot?

A

Protein

65
Q

Southwestern blot?

A

DNA binding proteins

66
Q

What is a direct ELISA?

A

Uses a test antibody to see if a specific antigen is present (antibody is directly coupled to a color- generating enzyme to defect antigen)

67
Q

What is an indirect ELISA?

A

uses either a test antigen or antibody to see if a specific antibody or antigen

a secondary antibody is coupled to a color generating enzyme is added to detect the antbody antigen complex

68
Q

What phase are chromosomes imaged in karyotyping?

A

Metaphase

69
Q

“fluorescent DNA or RNA probe binds to specific gene site of interest on chromosomes”

A

FISH

70
Q

What does cDNA not include?

A

introns

71
Q

“both alleles contribute to the phenotype of the heterozygote”

A

codominance

72
Q

“phenotype varies among individuals with the same genotype”

A

variable expressivity

73
Q

“one gene contributes to mutiple different phenotypic effects”

A

Pleiotrophy

74
Q

“mutations at differnt loci can produce a similar phenotype”

A

locus heterogeneity

75
Q

“different mutations in the same locus produce the same phenotype”

A

Allelic heterogeneity

76
Q

What chromosome is prader willi and angelman syndromes associated with?

A

Chromosome 15

77
Q

Name the condition:

“inappropriate laughter seizures, ataxia, and severe intellectual disability”

A

Angelman syndrome

78
Q

Name the condition:

“hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia”

A

Prader- willi syndrome

79
Q

Which inheritance pattern skips generations?

A

X lined recessive

80
Q

“ragged red fibers” that presents with myopathy, lactic acidosis and CNS disease

A

Mitochondrial myopathies

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