Gene expression: DNA structure, replication, and exchange.
DNA structure: single- and double-stranded DNA, stabilizing forces, supercoiling.
Analysis of DNA: sequencing, restriction analysis, PCR amplification, hybridization.
DNA replication, mutation, repair, degradation, and inactivation.
Gene structure and organization; chromosomes; centromere, telomere.
Recombination, insertion sequences, transposons.
Mechanisms of genetic exchange, including transformation, transduction, conjugation, crossover, recombination, linkage.
- Plasmids and bacteriophages.
Gene expression: transcription, including defects.
Transcription of DNA into RNA, enzymatic reactions, RNA, RNA degradation.
- Regulation: cis-regulatory elements, transcription factors, enhancers, promoters, silencers, repressants, splicing.
Gene expression: translation, including defects.
The genetic code.
Structure and function of tRNA.
Structure and function of ribosomes.
Protein synthesis.
Regulation of translation.
Post-translational modifications, including phosphorylation, addition of CHO units.
- Protein degradation.
Structure and function of proteins
Principles of protein structure and folding.
Enzymes: kinetics, reaction mechanisms.
Structural and regulatory proteins: ligand binding, self-assembly.
Regulatory properties.
Energy metabolism, including metabolic sequences and regulation
Generation of energy from carbohydrates, fatty acids, and essential amino acids; glycolysis, pentose phosphate pathway, tricarboxylic acid cycle, ketogenesis, electron transport and oxidative phosphorylation, glycogenolysis.
Storage of energy: gluconeogenesis, glycogenesis, fatty acid and triglyceride synthesis.
Thermodynamics: free energy, chemical equilibria and group transfer potential, energetics of ATP and other high-energy compounds.
Metabolic pathways of small molecules and associated diseases
Biosynthesis and degradation of amino acids (eg, homocystinuria, maple syrup urine disease).
Biosynthesis and degradation of purine and pyrimidine nucleotides.
Biosynthesis and degradation of lipids (eg, dyslipidemias, carnitine deficiency, adrenogenital syndromes).
Biosynthesis and degradation of porphyrins.
Galactosemia and other small sugar disorders.
Biosynthesis and degredation of alcohols and other small molecules.
Biosynthesis and degradation of other macromolecules and associated abnormalities, complex carbohydrates (eg, lysosomal storage disease), glycoproteins, and proteoglycans (eg, type II glycogen storage disease).
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