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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
SCID
Adenosine Deaminase D B and T cell \*Thymic aplasia, candidiasis/PCP, Chronic diarrhea, Failure to thrive
26
Aminacyl tRNA Synthetase
Attaches AA to tRNA
27
Autosomal Dominant Diseases
MMOOCHA STAND Marfan/MEN, OI/Osler-weber-rendu, Cholesterolemia, Huntington/vHL, ADPKD/Achondroplasia, Spherocytosis, Tuberous sclerosis, Adenosis polposis, Neurofibromatosis 1/2, Dystrophies myotonic
28
Autosomal Recessive disorders
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
X-Linked recessive
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
Prader willi
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
Angelman
Deletion maternal gene chrom 15, paternal imprinted inactivated \*Intellectual disability, ataxia, inappropriate laughter MAMA- Maternal Angelman, Mood, Ataxia
32
Blots
Southern- DNA sample, DNA probe Northern- RNA sample, DNA probe Western- Protein sample, AB probe SW- Protein sample, DNA probe
33
Indirect Elisa
Colorometric antigen, patient plasma for AB response
34
Direct elisa
Known antibody- sample for antigen
35
Nucleotide excision repair
Pyrimidine dimers - Xerodema pigmentosum Bulky changes \*Endonuclease \*polymerase \*ligase
36
Vimentin
Connective tissue stainable protein
37
Desmin
Muscle intermediate filament
38
Cytokeratin
Epithelial Intermediate filament
39
GFAP
Glial intermediate filament
40
Neurofilament
Neuron intermediate filament
41
Alport syndrome
IV collagen DZ Kidney/Ear/Eye BM Persistent microscopic hematuria- episodic gross hematuria
42
Hereditary hemorrhaghic telangectasia
Telangectasia, epistaxis, AV malformations, GI bleed hematuria Osler-Weber-Randau
43
Fragile X
v FMRI \*intellectual disability \* Big balls \*Large Jaw \*Large everted ears \*autism \*Mitral prolapse
44
Friedrichs Ataxia
Mitochondrial defect causing \*HYPERTROPHIC CDM \*Muscle weakness and hyporeflexia \*Vibration/Proprioception \*STAGGERING GAIT \*falls \*nystagmus, dysarthria \*Pes Cavis
45
Edwards syndrome
Trisomy 18 \*Intellectual D \*Rocker bottom feet \*Smal jaw- micrognathia \*Low ears \*clenched scissorhands \*prominant occiput DEATH IN 1 year
46
PATAU
Trisomy 13 Rocker bottom feet, microphhthalmia, microcphaly. \*CLEFT LIP AND PALATE \*holoprosencephaly \*Polydactyly \*Congenital heart disease EARLY DEATH
47
Williams Syndrome
7 microdeletion- elastin Elfin facies, intellectual D, Hypercalcemia Extremely friendly
48
Vitamin 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
Thiamine B1
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
Riboflavin
FAD- Component of dehydrogenase reactions (TCA cycle) Deficiency- Chelosis, Corneal vasculization, dementia, glossitis
51
Niacin- B3
NAD factor- can be derived from tryptophan Deficiency- Pellagra \*Dermatitis \*Dementia \*Diarrhea Excess- Facial flushing Hyperglycemia Hyperuricemia
52
B5 (pantothenate)
CoA part - fatty acid synthesis Deficiency -Dermatitis, enteritis, alopecia, adrenal insufficiency
53
B6 Pyridoxine
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
Biotin B7
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
Folate B9
Deficiency: Phenytoin, sulfonamides, MTX \*Increased cysteine with normal methylmmmalonyc acid
56
Irreversible enzymes of Gluconeogenesis
Pyruvate carboxylase PEP carboxyKinase F1-6Pase G6Pase
57
Respiratory burst enzymes
NADPH oxidase- superoxide SOD - SO --\> H2O2 Myeloperoxidase H2O2 --\> HOCl
58
Peroxide breakdown in Phagocytes
GSH peroxidase- H2O2-\> GSSG and H2O GSH Reductase- GSSG +NADPH --\> GSH + NADP G6PD - NADP+ + G6P---\> 6PG + NADPH
59
ApoB48
\*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
LPL
Lipoprotein lipase, uses cofactor CII to remove FFA from lipid particles DEFICIENT IN Type I Hyperlipidemia- Hyperchylomicronemia
61
APO B100
On VLDL from liver secretion, Binds LDLR
62
LCAT
Packs cholesterol into HDL Activated by Apo A1
63
CETP
Transfer of cholesterol esters to VlDL, IDL, LDL
64
SRB1
Cholesterol scavanger receptor

USMLE (8 decks)

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