1.1 Biochemistry and molecular biology
1.1.1 Gene expression: DNA structure, replication, and exchange
1.1.1.1 DNA structure: single- and double-stranded DNA, stabilizing forces, supercoiling
1.1.1.2 analysis of DNA: sequencing, restriction analysis, PCR amplification, hybridization
1.1.1.3 DNA replication, mutation, repair (xeroderma pigmentosa) and degradation
1.1.1.4 gene structure and organization; chromosomes in prokaryotes and eukaryotes
1.1.1.5 recombination, insertion sequences, transposons
1.1.1.7 plasmids and bacteriophages
1.1.2 gene expression: transcription
1.1.2.1 transcription of DNA into RNA; enzymatic reactions, RNA; RNA degradation
1.1.2.2 regulation cis-regulatory elements, transcription factors, enhancers, promoters
1.1.2.3 defects in transcription and RNA processing (e.g., thalassemias)
1.1.3 gene expression: translation
1.1.3.1 the genetic code
1.1.3.2 structure and function of tRNA
1.1.3.3 structure and function of ribosomes
1.1.3.4 protein synthesis
1.1.3.5 regulation of translation
1.1.3.6 post-translational modifications
1.1.3.7 protein degradation
1.1.3.8 defects in translation and protein structure (e.g., hemoglobinopathies, cystic fibrosis)
1.1.4 structure and function of proteins
1.1.4.1 principles of protein structure and folding
1.1.4.2 enzymes: kinetics, thermodynamics, reaction mechanisms
1.1.4.3 structural and regulatory proteins; ligand binding, self-assembly
1.1.4.4 mutations that alter proteins (e.g., hemoglobinopathies, familial hypercholesterolemia)
1.1.5 energy metabolism; metabolic sequences and regulation
1.1.5.1 generation of energy from carbohydrates, fatty acids, and nonessential amino acids; glycolysis, glycogenolysis, pentose phosphate pathway, tricarboxylic acid cycle, electron transport and oxidative phosphorylation
1.1.5.2 storage of energy: gluconeogenesis, glycogenesis, fatty acid and triglyceride synthesis
1.1.5.3 thermodynamics: free energy, chemical equilibria and group transfer potential; the energetics of ATP and other high-energy compounds
1.1.5.4 altered energy metabolism (e.g., cyanide poisoning, mitochondrial myopathies, diabetic ketoacidosis)
1.1.6 metabolic pathways of small molecules and associated diseases
1.1.6.1 biosynthesis and degradation of amino acids (e.g., Phenylketonuria, maple syrup urine disease
1.1.6.2 blosynthesis and degradation of purine and pyrimidine nucleotides (e.g., gout, Lesch-Nyhan syndrome)
1.1.6.3 biosynthesis and degradation of lipids and cholesterol, steroid hormones, prostaglandins, and thromboxanes (e.g., adrenogenital syndrome)
1.1.6.4 biosynthesis and degradation of porphyrins and bile acids (e.g., porphyrias)
1.2 Biology of cells
1.2.1 structure and composition of cell membranes; ion channels and pumps; endocytosis
1.2.2 second messenger systems (e.g., G proteins)
1.2.3 organelles, protein sorting and secretion
1.2.7 cell cycle
1.2.11 cell-to-cell communication, signal transduction, cell junction
1.3 Human development and genetics; Biochemical and molecular aspects
1.3.5 disease-producing mutations
1.3.5.1 chromosomal abnormalities: translocations, deletions, duplications, inversions (e.g., Down's syndrome, Philadelphia chromosome, fragile X syndrome)
1.3.5.3 single gene defects e.g. sickle cell anemia
1.3.5.3.1 autosomal dominant (e.g., Huntington's disease, osteogenesis imperfecta)
1.3.5.3.2 autosomal recessive (e.g., cystic fibrosis, phenylketonuria, hemoglobinopathies, thalassemias)
1.3.5.3.3 X-linked (e.g., Duchenne muscular dystrophy, hemophilia)
1.3.6 multifactorial diseases (e.g., diabetes mellitus, atherosclerotic heart disease,)
1.3.7 principles of therapy
1.3.7.1 diagnostic methods; predictive testing, screening, prenatal diagnosis
1.3.7.2 potentials for gene therapy: (application for cancer, adenosine deaminase deficiency, cystic fibrosis)
1.3.8 mouse model (systems, knock-outs, transgenic, and embryonic stem cells: Implications and disease
1.4 Biology of tissues and their responses to disease
1.4.2.3 lysosomal enzymes, reactive oxygen metabolites
1.4.4 neoplasia
1.4.4.2 cell biology, biochemistry, and molecular biology of neoplastic cells: cell kinetics, doubling time; control points, transformation, retroviruses, oncogenes, tumor-suppressor genes, apoptosis
1.4.4.3 polypeptide growth factors; signal transduction
1.4.4.4 hereditary neoplastic disorders; chromosomal abnormalities; translocations, karyotyptic abnormalities, predisposing Mendelian conditions
1.4.4.5 environmental carcinogenesis
1.6 Multisystem processes
1.6.1 nutrition
1.6.1.1 generation, expenditure, and storage of energy at the whole-body level
1.6.1.2 digestion and absorption of nutrients
1.6.1.3 functions of essential nutrients (e.g., vitamins, minerals, amino acids, fatty acids)
1.6.1.4 caloric and nitrogen balance
1.6.1.5 protein-calorie malnutrition (e.g., maraasmus, kwashiorkor)
1.6.1.6 vitamindeficiencies (e.g., folate/anemia, vitamin C/scurvy) and toxicities (e.g., vitamin D/hypercalcemia)
1.6.1.7 mineral deficiencies/toxicities: iron
1.6.1.8 obesity, anorexia, bulimia, food fads
1.7 Pharmacodynamic and pharmacokinetic processes
1.7.2 Biochemical aspects of autocoids
1.7.2.1 prostaglandins, leuukotrienes, thromboxanes, and their inhibitors
1.7.2.2 peptides and analogs (e.g., endorphins, substance P, erythropoietin)
1.7.2.3 biogenic amines (e.g., adrenergic, cholinergic, dopaminergic, serotonergic, histaminergic, GABAergic)
1.7.2.4 smooth muscle/endothelial autocoids; nitric oxide, platelet-activating factor, atrial natriuretic peptide, endothelin
1.7.2.5 cytokines (e.g., interleukins, tumor necrosis factor)
2.2 Normal processes
2.2.1 metabolic, physiologic, and regulatory processes
2.2.1.1 erythropoiesis, hemoglobin, normal erythrocyte function, O2 and CO2 transport, transport proteins, hemoglobin structure, function, and development
2.2.1.2 function of platelets, coagulation, homeostasis
2.3 Abnormal processes
2.3.1 genetic/congenital disorders (e.g., hemoglobinopathies, thalassemias, enzyme deficiency)
3.2 Normal processes
3.2.1.7 metabolism of the nervous system; energy metabolism
7.2 Normal processes
7.2.1 metabolic, physiologic, and regulatory processes
7.2.1.1 heart muscle, metabolism, biochemistry, and secretory function (e.g., atrial natriuretic peptide)
7.3 Abnormal processes
7.3.1 genetic/congenital disorders (e.g., glycogen storage diseases)
7.4 Principles of therapeutics
7.4.1 therapeutic mechanisms of action and uses of drugs for treatment of disorders of the cardiovascular system
7.4.1.5 drugs affecting cholesterol and lipid metabolism
7.4.1.6 drugs that affect blood coagulation; thrombolytic agents
8.2 Normal processes
8.2.1 metabolic, and regulatory processes
8.2.1.3 salivary, gastrointestinal, pancreatic, hepatic secretory products and processes
8.2.1.4 digestion and absorption
8.2.1.5 synthetic and metabolic functions of the liver; functions of gallbladder, bile ducts
8.2.1.6 enterohepatic
8.3Abnormal processes
8.3.4 disorders involving metabolic, physiologic, or regulatory processes
8.3.4.2 malabsorption (e.g., pancreatic insufficiency, sprue)
8.3.4.3 hepatic failure, jaundice, encephalopathy; cirrhosis
8.3.4.4 cholelithiasis, cholestasis
8.3.5 neoplastic disorders (e.g., pancreas, colon)
9.2 Normal processes
9.2.1.6 renal metabolism
11.2 Normal processes
11.2.1 hormone production, transport, and metabolism; hormone and intracellular actions, whole-body effects
11.2.1.4 adrenal cortex; adrenal medulla
11.2.1.5 endocrine pancreas
11.2.1.6 ovary and testis
11.2.1.8 steroids and molecular actions
11.3 Abnormal processes
11.3.1 genetic/congenital disorders; inborn errors of metabolism (e.g adrenal hyperplasia)
11.3.3 disorders involving metabolic, or regulatory processes
11.3.3.4 endocrine pancreatic disorders (e.g., diabetes mellitus, types 1 and 2), diabetic ketoacidosis, hyperosmolar coma, hyperinsulinism