question

Chromosome 3:

answer

vHL, RCC

question

Chromosome 4:

answer

ADPKD (PKD2), achondroplasia, HD

question

chromosome 5

answer

Cri-du-chat syndrome, FAP

question

Chromosome 6:

answer

HFE

question

Chromosome 7:

answer

Williams syndrome, CF

question

Chromosome 9:

answer

Friedreich Ataxia

question

Chromosome 11:

answer

Wilms tumor, Beta-globin gene defects (SCD/Beta thalassemia)

question

Chromosome 13:

answer

Patau syndrome, Wilson's disease, RB1, BRCA2

question

Chromosome 15

answer

Prader-Willi, Angelman, Marfan

question

Chromosome 16:

answer

ADPKD (PKD1), alpha globin gene (alpha thalassemia0

question

Chromosome 17:

answer

Neurofibromatosis type 1, BRCA1

question

Chromosome 18:

answer

Edwards syndrome

question

Chromosome 21:

answer

Down Syndrome

question

Chromosome 22:

answer

Neurofibromatosis type 2, DiGeorge Syndrome (22q11)

question

Chromosome X

answer

Fragil X, X linked agammaglobulinemia, Klinefelter syndrome XXY

question

Robertsonian Translocation:

answer

13, 14, 15, 21, 22 -forms when long arms of 2 afrocentric chromosomes fuse at centromere and 2 short arms are lost

question

Vit b1 (thiamine) cofactor in what 4 reactions:

answer

-Pyruvate ddhydrogenase links glycolysis to TCA -alpha ketoglutarate dehydrogenase (TCA cycle) -Transketolase (HMP shunt) -Branched chain ketoacid dehydrogenase

question

RLS Glycolysis, +/- regulators:

answer

PFK-1 + AMP, fructose 2,6 bp - ATP, citrate

question

RLS Gluconeogenesis +/- regulators:

answer

F-1,6 bisphosphatase + -AMP, F-26-bp

question

RLS TCA cycle, +/- regulators:

answer

Isocitrate dehydrogenase +ADP -ATP, NADH

question

RLS Glycogenesis, +/- regulators:

answer

Glycogen synthase +G-6-p, insulin, cortisol - Epi, glucagon

question

RLS Glycogenolysis, +/- regulators

answer

Glycogen phosphorylase + Epi, glucagon, AMP - G-6-P, insulin, ATP

question

RLS HMP shunt, +/- regulators

answer

Glucose-6-phosphate dehydrogenase + NADP+ - NADPH

question

RLS De novo pyrimidine synthesis, +/- regulators:

answer

Carbamoyl phosphate synthetase III + ATP, PRPP - UTP

question

RLS De novo purine synthesis, +/- regulators

answer

Glutamine-phosphoribosylphyrophosphate amidotransferase (PRPP) + AMP - Inosine monophosphate, GMP

question

RLS Urea cycle, +/- regulators:

answer

Carbamoyl phosphate synthase I +N-acetylgultamate

question

RLS FA synthesis, +/- regulators

answer

Acetyl-CoA carboxylase + Insulin, citrate - glucagon, palmitoyl-CoA

question

RLS FA oxidation, +/- regulators

answer

Carnitine acyltransferase I + - Malonyl-CoA

question

RLS Ketogenesis, +/- regulators

answer

HMG-CoA synthase + -

question

RLS Cholesterol synthesis, +/- regulators

answer

HMG-CoA Reductase + Insulin, thyroxine - glucagon, cholesterol

question

Link Enzyme to disease: -Galactokinase -galactose-1-phosphate uridyltransferase -Glucose-6-phosphatase -Fructokinase -Aldolase B

answer

-Galactokinase ---- Mild galactosemia -G-1-p uridyltransferase ---- severe galactosemia -G-6-Pase ----- von Gierke disease -Fructokinase ----- essential fructosuria -Aldolase B ------ Fructose intolerance

question

Irreversible enzymes in gluconeogenesis:

answer

-pyruvate carboxylase, mytochondria pyruvate-->oxaloacetate -Phosphoenolpyruvate carboxykinase in cytosol (Oxaloacetate==>PEP) -Fructose 1,6bpatase in cytosol F-1,6,bp-->F-6-P -Glucose 6-phosphatase in ER, G-6-P-> glucose

question

7 oncogenic viruses:

answer

Pox Hepatitis B/C EBV HPV HTLV-1 HHV8 Adenovirus, SV40 -Polyomavirus hominis 1/2

question

associate with diseases: HLA-A3 HLA-B8 HLA-B27 HLA DQ2/DQ8 HLA_ DR2 HLA DR3 HLA DR4 HLA DR5

answer

-A3: Hemochromatosis -B8: Addisons disease, Myaathenia gravis -B27: Psoriatic arthritis, ankylosing spondylitis, IBD- arthritis, Reactive arthritis (reiter) *PAIR of arthopathies* -DQ2DQ8: Celiac Disease -DR2: MS, Hya fever, SLE, GOodpasture -DR3: DM1, SLE, Graves, Hashimoto thyroiditis, Addison -DR4: RA, DM1, Addison -DR5: Pernicious anemia (B12 def), hashimoto

question

T cell differentiation:

answer

T precursor to CD8 cytotoxic OR -CD4 helper: via IL-12: TH1 Via IL-4: TH2 Via IL-6/TGF-beta: Th17 cell

question

Anti-Ach Receptor:

answer

MG

question

Anti-Basement Membrane:

answer

Goodpasture syndrome

question

Anticardiolipin, and ____ anticoagulant:

answer

(Lupus anticoagulant) SLE, antiphospholipid syndrome

question

Anticentromere:

answer

Limited scleroderma (CREST syndrome)

question

Anti-desmoglein

answer

Pemphigus vulgaris

question

Anti-smith

answer

SLE

question

Anti-dsDNA

answer

SLE

question

Anti-glutamic acid decarboxylase

answer

DM1

question

Anti GAD 65

answer

DM1

question

Antihemidesmosome

answer

Bullous pemphigoid

question

Anti-histone:

answer

Drug-induced lupus

question

Anti-Jo-1

answer

Polymyositis, dermatomyositis

question

Anti SRP

answer

Polymyositis, dermatomyositis

question

Anti Mi2

answer

Polymyositis, dermatomyositis

question

Antimicrosomal

answer

Hashimoto thyroiditis

question

Anti thyroglobulin

answer

Hashimoto thyroiditis

question

antimitochondrial

answer

primary biliary cirrhosis

question

ANA:

answer

SLE, nonspecific

question

Antiparietal cell:

answer

Pernicious anemia

question

Antiphospholipase A2 receptor:

answer

primary membranous nephropahty

question

Anti-Scl-70

answer

Scleroderma (Diffuse)

question

Anti DNA topoisomerase I

answer

Scleroderma (diffuse)

question

Anti-smooth muscle:

answer

autoimmune hepatitis type 1

question

Anti-SSA, anti-SSB

answer

Sjogren syndrome

question

Anti RO

answer

Sjogren syndrome (ssa)

question

Anti La0

answer

Sjogren syndrome (ssb)

question

Anti-TSH receptor:

answer

Graves

question

Anti-U1 RNP

answer

Mixed connective tissue disease

question

Anti ribonucleotide protein

answer

Mixed connective tissue disease

question

Voltage-gated Ca channel antibodies:

answer

Lambert-Eaton syndrome

question

IgA anti-endomysial

answer

CELIAC DISEASE

question

IgA anti tissue transglutaminase

answer

Celiac disease

question

MPO-ANCA

answer

Microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis (churg-strauss syndrome)

question

P ANCA

answer

Microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis (churg-strauss syndrome)

question

PR3-ANCA

answer

Granulomatosis with polyangiitis (Wegner)

question

C ANCA

answer

Granulomatosis with polyangiitis (Wegner)

question

IgM antibody that targets IgG Fc region

answer

RA (rheumatoid factor)

question

Anti CCRP

answer

RA (more specific than rheumatoid factor)

question

Chromosome 19

answer

DMPK gene-Muscular Dystrophy (trinucleotide expansion)

question

This enzyme is deficient in mild galactosemia

answer

Galactoskinase

question

This enzyme is deficient in severe galactosemia causing failure of galactose metabolism to link with glycogenesis/glycogenolysis

answer

Galactose-1-phosphate uridyltransferase

question

This enzyme converts glucose to glucose-6-phosphate initiating glycolysis

answer

hexokinase/glucokinase

question

This enzyme is deficient in von Gierke disease resulting in failure to create free glucose

answer

Glucose-6-phosphate

question

This enzyme connects HMP shunt intermediate Ribulose-5-phosphate to the glycolysis intermediate F-6-P requiring ? cofactor (TPP)

answer

Transketolase + thiamine (TTP)

question

This enzyme catalyzes the transfer of the intermediate glucose-6-phosphate to 6-phosphogluconolactone intermediate of HMP shunt

answer

G-6-P dehydrogenase

question

This enzyme converts F-6-P to F-1,6-P as the RLS of glycolysis

answer

PPK-1

question

This catalyzes the rxn of F-1,6-P to F-6-P of gluconeogenesis

answer

F-1,6-bisphosphatase

question

This enzyme is deficient in essential fructosuria resulting in the inability to metabolize fructose to Fuctose-1-phosphate

answer

Frutokinase

question

This enzyme deficiency results in fructose intolerance from the inability to convert F-1-P of fructose metabolism to DHAP of Glycolysis/gluconeogenesis

answer

Aldolase B

question

This form of what enzyme found in the liver? in muscle? catalyzes F-16,Bisphosphate to GAP/DHAP in glycolysis or reverse reaction in gluconeogenesis

answer

Aldolase B in liver Aldolase A in muscle

question

This catalyzes the last step in glycolysis (irreversible) from PEP to pyruvate

answer

Pyruvate kinase

question

This catalyzes the step linking glycolysis to lipid metabolism by converting pyruvate to acetyl-coa in a thiamine dependent reaction

answer

Pyruvate dehydrogenase

question

This enzyme converts HMG-CoA to mevalonate, an intermediate in lipid metabolism

answer

HMG-CoA reductase

question

This enzyme links the TC to glycolysis via oxaloacetate conversion to pyruvate in a biotin dependent reaction

answer

Pyruvate carboxylase

question

This enzyme links tCA with glycolysis by converting oxaloacetate to PEP

answer

PEP carboxykinase

question

This TCA enzyme combines oxalocaetate with Acetyl-CoA to form citrate

answer

Citrate synthase

question

This catalyzes the isocitrate to alpha-ketoglutarate RLS reaction of TCA

answer

isocitrate dehydogenase

question

This thiamine deponent reaction converts alpha-kg to succinyl-coA in the TCA cycle

answer

alpha-ketoglutarate dehydrogenase

question

This enzyme combines ornithine with carbamoyl phosphate to citrulline in the urea cycle

answer

ornithine transcarbamylase

question

This enzyme converts propionyl-coa to methylmalonyl-coa in a biotin dependent reaction allowing for entry to the TCA preceding final conversion of methylmalonyl-coa succinyl-coA in a b12 depdnet reaction. What is the enzyme that catalyzes the firs tstep

answer

Propionyl-CoA carboxylase

question

HLA-A3:

answer

Hemochromatosis

question

HLA-B8:

answer

-Addison disease -myasthenia gravis

question

HLA-B27:

answer

-Psoriatic arthritis -ankylosing spondylitis -IBD-associated arthritis -reactive arthritis (reiter syndrome)

question

HLA-DQ2/DQ8:

answer

Celiac disease

question

HLA-DR2:

answer

-MS -hay fever -SLE -Goodpasture syndrome

question

HLA-DR3

answer

-Diabetes mellitus type 1 -SLE -Graves -Hashimoto thyroiditis -Addison disease

question

HLA-DR4:

answer

-RA -DM-T1 -Addison disease

question

HLA-DR5:

answer

-Pernicious anemia (B12 deficiency) -Hashimoto thyroiditis

question

This is also called osteoclast-activating factor, it causes fever and acute inflammation. It activates endothelium to express adhesion molecules and induces chemokine secretions to recruit WBCs

answer

IL-1

question

This causes fever and stimulates production of acute phase proteins

answer

IL-6

question

This stimulates T cells

answer

IL-1

question

This stimulates bone marrow

answer

IL-3

question

This stimulates IgE production

answer

IL-4

question

This stimulates IgA production

answer

IL-5

question

This is a major chemotactic factor for neutrophils

answer

IL-8

question

This induces differentiation of T cells into Th1 cells and activates NK cells

answer

IL-12

question

This mediates septic shock, activates endothelium and causes WBC recruitment and vascular leakage and cachexia in malignancy

answer

TNF-alpha

question

This stimulates growth of helper, cytotoxic, and regulatory T cells and NK cells

answer

IL-2

question

This supports growth and differentiation of bone marrow stem cells and functions like GM-CSF

answer

IL-3

question

This is secreted by NK cells and T cells in response to IL-12 from macrophages and stimulates macrophages to kill phagocytksed pathogens.

answer

IFN-gamma

question

This inhibits differentiation of Th2 cells

answer

IFN-Gamma

question

This activates NK cells to kill virus infected cells, and increases MHC expression and antigen presentation by all cells

answer

IFN-gamma

question

This induces differentiation of T cells into Th2 cells, promotes growth of B cells, and enhances class switching to IgE and IgG

answer

IL-4

question

This promotes growth and differentiation of b cells, enhances class switching to IGA, and stimulates growth and differentiation of eosinophils

answer

IL-5

question

This attenuates inflammatory response, decreases expression of MHC class II and Th1 cytokines, inhibits activated macrophages and dendritic cells, and is also secreted by regulatory t cells

answer

IL-10

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