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Biochem Flashcards

1
Q

Base Excision Repair

A

*glycosylase removes base *Endonuclease cuts 5’ *Lyase cuts 3’ *Polymerase *ligase

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2
Q

Mismatch repair

A

Mismatch proofread and removed - HNPCC/ Lynch (AD- MST2/MLH1. MUTs, MUTl

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3
Q

Nonhomologous Joining

A

DS breaks -Ataxia telangectasia Iga Deficiency, Ataxia, course smooth persuit, AFP elevation

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4
Q

BRCA1 and BRCA1

A

DS DNA repair gene

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5
Q

Stop codons

A

UGA, UAA, UAG U go away, U are away, U are gone

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6
Q

Enhancers and Silencers

A

+ and - regulators of transcription close to or far from gene

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7
Q

RNA polymerases

A

I-rRNA II-mRNA III-tRNA

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8
Q

Bloom syndrome

A

Helicase mutation - problems with repair and replication - Sunliight hypersensitivity, immunodeficiency, hematologic malignancy, infertility, facial anomalies

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9
Q

End of TRNA for charging

A

CCA

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10
Q

CDK pairings

A

Cyclin D/CDK4 - G1->s Cyclin E/CDK2 - G1->s Cyclin A/CDK2 - G2->M Cyclin B/ CDK1 - G2->M

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11
Q

AG- Purine synthesis AA and cofactors

A

Glycine, glutamine, aspartate TH4 CO2

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12
Q

CUT Pyrimadine synthesis building blocks

A

Aspartate Carbamoyl phosphate ATP CO2

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13
Q

Pyrimadine synthesis RLS

A

Carbamoyl phospahate synthetase 2

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14
Q

Urea cycle RLS

A

Cabamoyl phosphate synthase I

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15
Q

Orotic aciduria

A

UMP synthase D (AR) *Orotic aciduria, Hypersegmented neutrophils, Glossitis FAILURE TO THRIVE no hyperommonemia Doest respond to B12 or Folate supplementation TX: UMP supplementation

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16
Q

Ribonucleotide reductase

A

Takes UDP to dUMP *Blocked by Hydroxyurea

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17
Q

Thymidylate synthase

A

dUMP to dTMP *requires THF *Blocked by 5FU

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18
Q

Dihydrofolate reductase

A

DHF->TH4 *Necessary for Thymidine synthesis *inhibited by MTX, TMP

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19
Q

PRPP Amidotransferase

A

RLS in Pyrimidine synthesis Requires THF Inhibited by 6 mercaptopurine Results in IMP

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20
Q

IMP dehydrogenase

A

IMP-GMP Inhibited by mycophenolate

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21
Q

Xanthine Oxidase

A

Hypoxanthine —>Xanthine–>Uric acid inhibited by allopurinol/febuxostat

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22
Q

HGPRT

A

Guanine–>GMP or Hypoxanthine–IMP

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23
Q

Lesch-Nyhan

A

HGPRT Deficiency *Gout, CNS problems, aggression, self mutilation, choreoform movements TX: Allopurinol

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24
Q

Adenosine deaminase

A

Adenosine->Inosine (later turned to guanine) Deficient in SCID

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25
Q

SCID

A

Adenosine Deaminase D B and T cell *Thymic aplasia, candidiasis/PCP, Chronic diarrhea, Failure to thrive

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26
Q

Aminacyl tRNA Synthetase

A

Attaches AA to tRNA

27
Q

Autosomal Dominant Diseases

A

MMOOCHA STAND Marfan/MEN, OI/Osler-weber-rendu, Cholesterolemia, Huntington/vHL, ADPKD/Achondroplasia, Spherocytosis, Tuberous sclerosis, Adenosis polposis, Neurofibromatosis 1/2, Dystrophies myotonic

28
Q

Autosomal Recessive disorders

A

ABCDEFGH SPW Albinism/Alpha1AT, Beta thal, CF/CAH, Dubin johnson/deafness, Enzyme Ds(lysosome/glycogen storage), Friedrichs Ataxia/Fanconi, Galactosemia, Hemochromatosis Sickle cell, PKU, Wilsons

29
Q

X-Linked recessive

A

Oblivious female will give her boys her X-Linked Disorders Ocular albinism, Fabry, Wiskott-aldrich, G6PD, Hunter syndrome, Brouton agammaglobinemia, Hemophilia AB, Lesch-Nyhan, Duchenne’s MD

30
Q

Prader willi

A

Paternal gene chromosome 16 deleted, maternal imprinting silenced *Hypotonia, poor muscle tone, poor feeding, downward mouth, almond eyes *hyperphagia, obesity, short stature, retard, tantrums, ocd, hypogonad hypogonadism, osteoporosis POP: Prader willi, obesity, Paternal gene Dx: FISH Tx: Limit food, rGH

31
Q

Angelman

A

Deletion maternal gene chrom 15, paternal imprinted inactivated *Intellectual disability, ataxia, inappropriate laughter MAMA- Maternal Angelman, Mood, Ataxia

32
Q

Blots

A

Southern- DNA sample, DNA probe Northern- RNA sample, DNA probe Western- Protein sample, AB probe SW- Protein sample, DNA probe

33
Q

Indirect Elisa

A

Colorometric antigen, patient plasma for AB response

34
Q

Direct elisa

A

Known antibody- sample for antigen

35
Q

Nucleotide excision repair

A

Pyrimidine dimers - Xerodema pigmentosum Bulky changes *Endonuclease *polymerase *ligase

36
Q

Vimentin

A

Connective tissue stainable protein

37
Q

Desmin

A

Muscle intermediate filament

38
Q

Cytokeratin

A

Epithelial Intermediate filament

39
Q

GFAP

A

Glial intermediate filament

40
Q

Neurofilament

A

Neuron intermediate filament

41
Q

Alport syndrome

A

IV collagen DZ Kidney/Ear/Eye BM Persistent microscopic hematuria- episodic gross hematuria

42
Q

Hereditary hemorrhaghic telangectasia

A

Telangectasia, epistaxis, AV malformations, GI bleed hematuria Osler-Weber-Randau

43
Q

Fragile X

A

v FMRI *intellectual disability * Big balls *Large Jaw *Large everted ears *autism *Mitral prolapse

44
Q

Friedrichs Ataxia

A

Mitochondrial defect causing *HYPERTROPHIC CDM *Muscle weakness and hyporeflexia *Vibration/Proprioception *STAGGERING GAIT *falls *nystagmus, dysarthria *Pes Cavis

45
Q

Edwards syndrome

A

Trisomy 18 *Intellectual D *Rocker bottom feet *Smal jaw- micrognathia *Low ears *clenched scissorhands *prominant occiput DEATH IN 1 year

46
Q

PATAU

A

Trisomy 13 Rocker bottom feet, microphhthalmia, microcphaly. *CLEFT LIP AND PALATE *holoprosencephaly *Polydactyly *Congenital heart disease EARLY DEATH

47
Q

Williams Syndrome

A

7 microdeletion- elastin Elfin facies, intellectual D, Hypercalcemia Extremely friendly

48
Q

Vitamin A

A

Antioxidant -differentiation of epithelial cells -Adjunct to measels treatment, PML treatment, Acne (isotretinoin Deficiency- Night blindness, dry skin/alopecia, immune D Excess- Pseudotumor cerebri, alopecia and skin changes, Hepatic abnormatities, Cleft palate/Cardiac defects

49
Q

Thiamine B1

A

Part of TTP- necessary in many dehydrogenase reactions *Pyuvate/ alpha ketoacid dehydro/Transketolase/ Branched chain keto Deficiency- *Confusion/ophthalmoplegia/ataxia *Confabulation, personality change- Medial thalamus and mamillary bodies *Dry Beriberi- Polyneuritis/muscle wasting *Wet beriberi- High output cardiac failure *** Give thiamine with glucose to hypoglycemic at risk for deficicency**

50
Q

Riboflavin

A

FAD- Component of dehydrogenase reactions (TCA cycle) Deficiency- Chelosis, Corneal vasculization, dementia, glossitis

51
Q

Niacin- B3

A

NAD factor- can be derived from tryptophan Deficiency- Pellagra *Dermatitis *Dementia *Diarrhea Excess- Facial flushing Hyperglycemia Hyperuricemia

52
Q

B5 (pantothenate)

A

CoA part - fatty acid synthesis Deficiency -Dermatitis, enteritis, alopecia, adrenal insufficiency

53
Q

B6 Pyridoxine

A

Pyridoxal Phosphate- ALT and AST function VITAL TO PP Transamination, decarbox, glycogenolysis, many neurotransmitters etc Defieciency- *GABA deficiency- Convulsions, hyperirritability, peripheral neuropathy *Can be caused by INH and OCP *Sideroblastic anemia

54
Q

Biotin B7

A

Carboxylation enzymes: Pyruvate–>OAA Acetyl CoA->Malonyl CoA Pripionyl CoA –> Methylmalonyl CoA Deficiency: Caused by a ton of raw egg whites or antibiotics *Dermatitis, alopecia, enteritis

55
Q

Folate B9

A

Deficiency: Phenytoin, sulfonamides, MTX *Increased cysteine with normal methylmmmalonyc acid

56
Q

Irreversible enzymes of Gluconeogenesis

A

Pyruvate carboxylase PEP carboxyKinase F1-6Pase G6Pase

57
Q

Respiratory burst enzymes

A

NADPH oxidase- superoxide SOD - SO –> H2O2 Myeloperoxidase H2O2 –> HOCl

58
Q

Peroxide breakdown in Phagocytes

A

GSH peroxidase- H2O2-> GSSG and H2O GSH Reductase- GSSG +NADPH –> GSH + NADP G6PD - NADP+ + G6P—> 6PG + NADPH

59
Q

ApoB48

A

*Chylomicron Apoprotein at brush border *Needed for liver chylomicron uptake Abberant/missing in Abetalipoproteinemia *Causes failure to thrive *ADEK deficiency *Acanthocytosis *Steatorrhea TX: Vitamin E

60
Q

LPL

A

Lipoprotein lipase, uses cofactor CII to remove FFA from lipid particles DEFICIENT IN Type I Hyperlipidemia- Hyperchylomicronemia

61
Q

APO B100

A

On VLDL from liver secretion, Binds LDLR

62
Q

LCAT

A

Packs cholesterol into HDL Activated by Apo A1

63
Q

CETP

A

Transfer of cholesterol esters to VlDL, IDL, LDL

64
Q

SRB1

A

Cholesterol scavanger receptor

USMLE (8 decks)

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