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Le. First Aid USMLE Step 1. Biochemistry. 30e. 2020.

00 CONTENTS

01 MOLECULAR
Chromatin structure
Heterochromatin
Euchromatin
DNA methylation
Histone methylation
Histone acetylation
Histone deacetylation

Nucleotides
De novo pyrimidine & purine synthesis

Pyrimidine synthesis
Purine synthesis
Purine and pyrimidine synthesis

Purine salvage deficiencies
Adenosine deaminase deficiency
Lesch-Nyhan syndrome

Genetic code features
Unambiguous
Degenerate/redundant
Commaless, nonoverlapping
Universal

DNA replication
Origin of replication
Replication fork
Helicase
Single-stranded binding proteins
DNA topoisomerases
Primase
DNA polymerase III
DNA polymerase I
DNA ligase
Telomerase

Mutations in DNA

Single nucleotide substitutions
Other mutations

Lac operon
DNA repair
Single strand
Double strand

Functional organization eukaryotic gene

Regulation of gene expression
Promoter
Enhancer
Silencer

RNA polymerases

RNA processing (eukaryotes)
Eukaryotes
Prokaryotes

Splicing of pre-mRNA
Introns vs Exons
microRNAs
tRNA

Structure
Charging

Start and stop codons
Protein synthesis
Initiation
Elongation
Termination

Posttranslational modifcations
Trimming
Covalent alterations

Chaperone protein


02 CELLULAR
Cell cycle phases
REGULATION OF CELL CYCLE
CELL TYPES

Rough Endoplasmic Reticulum
Smooth Endoplasmic Reticulum
Cell trafcking
Peroxisome
Proteasome
Cytoskeletal elements
Microtubule
Cilia structure
Sodium-potassium pump
Collagen
Collagen synthesis and structure
Osteogenesis imperfecta
Ehlers-Danlos syndrome
Menkes disease
Elastin


03 LABORATORY TECHNIQUES
Polymerase chain reaction
Reverse transcriptase polymerase chain reaction
CRISPR/Cas9
Blotting procedures
Southern blot
Northern blot
Western blot
Southwestern blot

Flow cytometry
Microarrays
Enzyme-linked immunosorbent assay
Karyotyping
Fluorescence in situ hybridization
Molecular cloning
Gene expression modifcations

Cre-lox system
RNA interference


04 GENETICS
Genetic terms
Hardy-Weinberg population genetics
Disorders of imprinting
Modes of inheritance
Autosomal dominant diseases
Autosomal recessive diseases
Cystic fibrosis
X-linked recessive disorders
Muscular dystrophies
Rett syndrome
Fragile X syndrome
Trinucleotide repeat expansion diseases

Autosomal trisomies
Genetic disorders by chromosome
Robertsonian translocation
Cri-du-chat syndrome
Williams syndrome


05 NUTRITION
Fat-Soluble Vitamins
Water-Soluble Vitamins
Vitamin A—Retinoids
Vitamin B1 (thiamine)
Vitamin B2 (riboflavin)
Vitamin B3 (niacin)
Vitamin B5
—Pantothenic Acid
Vitamin B6
—Pyridoxine
Biotin (Vitamin B7)
Folic Acid (Vitamin B
9)
Vitamin B
12—Cobalamin
Vitamin C—Ascorbic Acid

Vitamin D—Cholecalciferol
Vitamin E—α-Tocopherol
Vitamin K—Phylloquinone
Zinc

Protein-energy malnutrition
Ethanol metabolism


06 METABOLISM
Metabolism Sites
Mitochondria
Cytoplasm
Both

Enzyme terminology
Kinase
Phosphorylase
Phosphatase
Dehydrogenase
Hydroxylase
Carboxylase
Mutase
Synthase/synthetase

Rate-determining enzymes of metabolic processes
Summary of Pathways
ATP production
Activated carriers
Universal electron acceptors

Hexokinase vs glucokinase
Glycolysis regulation, key enzymes

Regulation by fructose-2,6-bisphosphate
Pyruvate Dehydrogenase Complex
PDC defciency
Pyruvate metabolism
TCA cycle (Krebs cycle)

Electron Transport Chain & Oxidative Phosphorylation
Inhibitors of ETC
Gluconeogenesis, irreversible enzymes
HMP shunt (pentose phosphate pathway)

Glucose-6-phosphate dehydrogenase defciency
Disorders of fructose metabolism
Disorders of galactose metabolism
Sorbitol
Lactase defciency

Amino acids
Urea Cycle
Transport of ammonia by alanine
Hyperammonemia
Ornithine transcarbamylase defciency
Amino acid derivatives
Catecholamine Synthesis/tyrosine catabolism

Phenylketonuria
Maple syrup urine disease
Alkaptonuria
Homocystinuria
Cystinuria
Organic acidemias
Propionic acidemia

Glycogen regulation by insulin & glucagon/epinephrine

Glycogen
Glycogen storage diseases
Lysosomal storage diseases

Fatty acid metabolism
Ketone bodies

Metabolic fuel use

Lipid transport
Key enzymes in lipid transport
Major apolipoproteins
Lipoprotein functions
Abetalipoproteinemia
Familial dyslipidemias