Biochemistry Flashcards

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1
Q

What are the stop codon(s)?

A

UAA, UAG, UGA

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2
Q

What are the start codon(s)?

A

AUG

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3
Q

What are the purines?

A

Adenine and Guanine - they have 2 rings

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4
Q

What are the pyrimidines

A

Cytosine, uracil, and thymine - they have 1 ring

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5
Q

Which A.A. are necessary for purine synthesis

A

GAG - glycine, aspartate and glutamine

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6
Q
Which drugs impair pyrimidine synthesis?
Leflunomide
Methotrexate, trimethoprim, pyrimethamine
5-fluorouracil
6-mercaptopurine, azothioprine
Mycophenolate, ribovarin
Hydroxyurea
A

Leflunomide –> pyrimidine (dihydroorotate dehydrogenase)
Methotrexate, trimethoprim, pyrimethamine –> pyrimidine (dihydrofolate reductase)
5-fluorouracil –> pyrimidine (thymidylate synthase)
6-mercaptopurine (prodrug is azothioprine) –> purine
Mycophenolate, ribovarin –> purine (inhibit inosine monophosphate dehydrogenase)
Hydroxyurea –> both (inhibits ribonucleotide reductase)

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7
Q

Which drugs (3) affect the purine salvage pathway?

A

Allopurinol and febuxostat inhibit xanthine oxidase
Low-dose aspirin inhibits excretion of uric acid to urine
Probenecid increases excretion of uric acid to urine

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8
Q

What is the defect in Lesch-Nyhan Syndrome?

What are the features of Lesch-Nyhan Syndrome?

A

HGPRT (hypoxanthine guanine phosphoribosyltransferase) deficiency, enzyyme of the purine salvage pathway, resulting in excess uric acid production and de novo purine synthesis. X-linked recessive disorder.

Features: HGPRT
Hyperuricemia, gout, pissed off (aggression and self-maiming), retardation, and tone (dystonia)
Orange “sand” (sodium urate crystals) in diaper
Treatment: allopurinol or febuxostat

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9
Q

Adenosine deaminase deficiency results in

A

autosomal recessive form of SCID
ADA is an enzyme in purine salvage and its absence leads to a build up of metabolites (dATP) that are toxic to lymphocytes

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10
Q

Which A.A. are encoded my only 1 codon?

A

AUG - methionine

UGG - tryptophan

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11
Q

Fluoroquinolones target which bacterial function?

A

Fluoroquinolones inhibit prokaryotic topoisomerase II (DNA gyrase) and topoisomerase IV, enzymes of DNA replication that create single or double strand breaks in DNA helix to remove supercoils

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12
Q

What is the mutation in Sickle Cell Disease?

A

Missense mutation - substitution of glutamic acid with valine

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13
Q

What is the mutation in Duchenne muscular dystrophy and Tay-Sachs disease?

A

Frameshift mutation

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14
Q

Lynch syndrome is a defect in ____________

A

Mismatch repair

Lynch syndrome = hereditary nonpolyposis colorectal cancer

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15
Q

In eukaryotes, what are the functions of RNA polymerase I, II, and III?

A

RNA Polymerase I –> rRNA
RNA Polymerase II –> mRNA
RNA Polymerase III –> tRNA

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16
Q

Rifampin inhibits

A

DNA-dependent RNA polymerase in prokaryotes

17
Q

Anti-Smith antibodies are seen in

A

SLE (highly specific) and mixed connective tissue disease (MCTD)
Anti-Smith antibodies are anti-spliceosomal snRNP antibodies

18
Q

A child has coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes. This is most likely due to a defect in __________________

A

The child has I-cell disease (AKA inclusion cell or mucolipidosis type II) which is often fatal in childhood and is caused by a defect in N-acetylglucosaminyl-1-phsophotransferase. Golgi is unable to phosphorylate mannose residues on glycoproteins and they are secreted extra-cellularly rather than trafficked to lysosomes.

19
Q

What is the defect in Zellweger syndrome and Refsum disease?

What are their features?

A

Both are peroxisome disorders (commonly lead to neurological disease due to deficits in plasmalogen synthesis - important phospholipid in myelin)

Zellweger syndrome: hypotonia, seizures, hepatomegaly, and early death

Refsum disease: scaly skin, ataxia, cataracts/nightblindness, shortening of 4th toe, epiphyseal dysplasia)

20
Q

Vimentin stains for

A

Mesenchymal tissue and related tumours (e.g. sarcoma, endometrial, renal cell, meningioma)

21
Q

Desmin stains for

A

Muscle and related tumours (sarcoma)

22
Q

Cytokeratin stains for

A

Epithelial cells and related tumours (squamous cell)

23
Q

GFAP stains for

A

Neuroglia (E.g. astrocytes, Schwann cells, oligodendrocytes) and related tumours (astrocytoma, glioblastoma)

24
Q

Neurofilaments stain for

A

Neurons and related tumours (neuroblastoma)

25
Q

Which drugs act on microtubules

A
MGCVP - microtubules get constructed very poorly
Mebendazole (anti-helminthic)
Griseofulvin (anti-fungal)
Colchicine (anti-gout)
Vincristine/vinblastine (anti-cancer)
Paclitaxel (anticancer)
26
Q

What is the defect in Kartagener syndrome?

What are the features?

A

Kartagener Syndrome AKA primary ciliary dyskinesia

Cause: defect in dynein arm causing immotile cilia

Features: male and female infertility, increased risk of ectopic pregnancy, situs inversus, bronchiectasis, recurrent sinusitis, chronic ear infections, and conductive hearing loss

27
Q

What is the target of digoxin?

A

Na-K-ATPase

Prevents Na from exiting the cell thereby inhibiting Na/Ca exchange. Higher [Ca++]i increases heart contractility

28
Q
Which structures contain
Collagen I
Collagen II
Collagen III
Collagen IV
A
BST CRB
Collagen I
- Bone, Skin, Tendons, dentin, fascia, cornea
Collagen II
- Cartilage
Collagen III
- Reticulin, skin, blood vessels, uterus, fetal tissue
Collagen IV
- Basement membrane, basal lamina, lens
29
Q

Alport syndrome is due to

A

Defective col IV

Goodpasture’s Syndrome = antibody against col IV