PART IMolecular & Cell BiologyChapters 01–04 · 17 pages
1.01Chromatin & epigeneticsHeterochromatin vs euchromatin · methylation · histone acetylation · imprinting basisOpen →1.02Nucleotide synthesisPurine vs pyrimidine de novo · PRPP · ribonucleotide reductase · drugs that block each stepOpen →1.03Purine salvage & nucleotide disordersHGPRT · Lesch-Nyhan · ADA deficiency · orotic aciduria · goutOpen →1.04DNA replicationFork enzymes · topoisomerases · telomerase · prokaryote vs eukaryote polymerasesOpen →1.05DNA mutations & repairMutation types · NER, BER, MMR, NHEJ, HR · xeroderma, Lynch, BRCAOpen →02RNA & Protein Synthesis
2.01TranscriptionRNA polymerases · promoter, enhancer, silencer · α-amanitin, rifampinOpen →2.02RNA processing & splicing5′ cap · poly-A tail · spliceosome · alternative splicing · microRNAOpen →2.03Genetic code & translationCodon features · tRNA charging · initiation, elongation, termination · antibioticsOpen →2.04Protein folding, modification & traffickingChaperones · phosphorylation, glycosylation · mannose-6-P · I-cell diseaseOpen →3.01Cell cyclePhases · CDKs and cyclins · Rb and p53 checkpoints · labile, stable, permanentOpen →3.02Organelles: ER, Golgi, peroxisome & proteasomeRER vs SER · Golgi sorting · Zellweger, Refsum · ubiquitin–proteasomeOpen →3.03Cytoskeleton, cilia & motor proteinsMicrofilaments, intermediate filaments, microtubules · dynein · KartagenerOpen →3.04Membranes, Na⁺/K⁺-ATPase & signalingPump and digoxin · G-protein pathways · receptor tyrosine kinases · JAK-STATOpen →3.05CollagenTypes I–IV · synthesis steps inside and outside the cell · scurvy, OI, Ehlers-Danlos, MenkesOpen →3.06Elastin, fibrillin & connective tissue disordersElastin · fibrillin and Marfan · α1-antitrypsin · homocystinuria vs MarfanOpen →4.01Nucleic acid techniquesPCR · Southern, Northern · microarray · Sanger and NGS · CRISPR · RNAiOpen →4.02Protein, cell & cytogenetic techniquesELISA · Western · flow cytometry · karyotype · FISH · knock-out and knock-inOpen → PART IIGeneticsChapters 05 · 9 pages
5.01Genetic terms & principlesPenetrance · expressivity · pleiotropy · anticipation · mosaicism · heteroplasmy · LOHOpen →5.02Inheritance patterns & pedigreesAD, AR, XLR, XLD, mitochondrial · reading a pedigree · recurrence risksOpen →5.03Hardy-Weinberg & population geneticsp² + 2pq + q² · carrier frequency · X-linked math · assumptionsOpen →5.04Imprinting & trinucleotide repeatsPrader-Willi vs Angelman · uniparental disomy · fragile X, Huntington, myotonic, FriedreichOpen →5.05Autosomal dominant diseasesADPKD · FAP · familial hypercholesterolemia · NF1/2 · tuberous sclerosis · VHL · Huntington · MarfanOpen →5.06Autosomal recessive & X-linked diseasesCystic fibrosis · sickle cell · storage diseases · XLR list · Rett, fragile XOpen →5.07Autosomal trisomiesDown · Edwards · Patau · quad screen patterns · nondisjunction vs RobertsonianOpen →5.08Deletions & sex chromosome disorders22q11 · Williams · cri-du-chat · Turner · Klinefelter · XYY · DSDsOpen →5.09Muscular dystrophies & mitochondrial diseaseDuchenne vs Becker · frameshift vs in-frame · MELAS, MERRF, LHONOpen → PART IIINutritionChapters 06 · 5 pages
PART IVMetabolismChapters 07–10 · 20 pages
7.01Enzyme kinetics & inhibitionKm, Vmax · Lineweaver-Burk · competitive vs noncompetitive · irreversibleOpen →7.02Metabolic map & rate-limiting enzymesWhere each pathway runs · rate-limiting step · activators and inhibitorsOpen →7.03Fed, fasting & starvation statesInsulin vs glucagon · fuel by time since meal · tissue fuel preferencesOpen →08Carbohydrate Metabolism
8.01GlycolysisHexokinase vs glucokinase · PFK-1 · pyruvate kinase · RBC 2,3-BPGOpen →8.02Pyruvate fates & PDHFour fates of pyruvate · PDH cofactors · PDH deficiency · arsenicOpen →8.03TCA cycle & electron transportTCA steps and products · complexes I–V · inhibitors · uncouplersOpen →8.04GluconeogenesisFour bypass enzymes · substrates · von Gierke link · alcoholOpen →8.05HMP shunt & NADPHOxidative and nonoxidative phases · G6PD · NADPH uses · respiratory burstOpen →8.06Fructose, galactose & sorbitolEssential fructosuria vs fructose intolerance · galactosemia · aldose reductase · lactaseOpen →8.07Glycogen & glycogen storage diseasesGlycogen synthesis and breakdown · von Gierke · Pompe · Cori · McArdleOpen →9.01Urea cycle & hyperammonemiaUrea cycle steps · OTC vs CPS I deficiency · ammonia treatmentOpen →9.02Amino acid derivativesTyrosine → catecholamines · tryptophan → serotonin, niacin · heme, NO, histamine, GABAOpen →9.03Phenylalanine & tyrosine disordersPKU · BH4 deficiency · alkaptonuria · albinism · tyrosinemiaOpen →9.04Homocystinuria, MSUD & other aminoacidopathiesHomocystinuria types · MSUD · organic acidemias · cystinuria · HartnupOpen →9.05Heme synthesis & porphyriasALA synthase · lead poisoning · AIP · PCT · bilirubin handoffOpen →10.01Fatty acid synthesis & oxidationCitrate shuttle · acetyl-CoA carboxylase · carnitine shuttle · MCAD deficiencyOpen →10.02Ketone bodiesSynthesis in liver · use by brain and muscle · DKA vs starvation vs alcoholOpen →10.03Cholesterol & lipoproteinsHMG-CoA reductase · apolipoproteins · chylomicron to LDL pathwayOpen →10.04Familial dyslipidemiasTypes I–V · LPL, LDL receptor, ApoE · xanthomas, pancreatitisOpen →10.05Lysosomal storage diseasesSphingolipidoses · mucopolysaccharidoses · enzyme and inheritanceOpen → PART VFinal Rapid-Fire ReviewChapters 11 · 4 pages