Physeo Biochemistry

Description

MEDICAL COURSE AND STEP 1 REVIEW FIRST EDITION Accompanies online videos taught by Rhett Thomson & Michael Christensen. physeo.com MOLECULAR ........................................................................................................................4 Section I - DNA Replication ......................................................................................................................................................... 4 Section II - DNA Repair ............................................................................................................................................................... 7 Section III - Transcription ............................................................................................................................................................. 9 Section IV - Translation .............................................................................................................................................................. 13 Section V - DNA Mutations ........................................................................................................................................................ 15 CELLULAR ..........................................................................................................................18 Section I - Cell Cycle .................................................................................................................................................................. 18 Section II - Cell Structure ........................................................................................................................................................... 21 Section III - Connective tissue .................................................................................................................................................... 24 LABORATORY TECHNIQUES .........................................................................................28 Section I - PCR ........................................................................................................................................................................... 28 Section II - Blotting Procedures .................................................................................................................................................. 30 Section III - Flow cytometry ....................................................................................................................................................... 32 Section IV - Microarrays and ELISA .......................................................................................................................................... 34 Section V - Karyotyping and FISH ............................................................................................................................................. 36 Section VI - CRISPR/Cas9 & Molecular Cloning ...................................................................................................................... 38 GENETICS ............................................................................................................................40 Section I - Genetics Overview .................................................................................................................................................... 40 Section II - Imprinting and Uniparental Disomy ........................................................................................................................ 45 Section III - Linkage Disequilibrium .......................................................................................................................................... 49 Section IV - Pedigrees................................................................................................................................................................. 51 Section V - Hardy-Weinberg Principle ....................................................................................................................................... 54 Section VI - Autosomal Dominant Diseases ............................................................................................................................... 56 Section VI.1 - Autosomal Dominant Diseases ............................................................................................................................ 58 Section VII - X-linked Diseases.................................................................................................................................................. 59 Section VII.1 - X-linked Recessive Diseases.............................................................................................................................. 61 Section VII.2 - Rett Syndrome .................................................................................................................................................... 62 Section VIII - Autosomal Recessive Diseases ............................................................................................................................ 63 Section IX - Trinucleotide Repeat Disorders .............................................................................................................................. 65 Section IX.1 - Huntington Disease ............................................................................................................................................. 68 Section IX.2 - Myotonic Dystrophy ............................................................................................................................................ 69 Section IX.3 - Fragile X Syndrome ............................................................................................................................................ 70 Section IX.4 - Friedreich Ataxia ................................................................................................................................................. 71 Section X - Autosomal Trisomies ............................................................................................................................................... 72 Section X.1 - Down Syndrome ................................................................................................................................................... 76 Section X.2 - Edwards Syndrome ............................................................................................................................................... 77 Section X.3 - Patau Syndrome .................................................................................................................................................... 78 Section XI - Sex Chromosome Disorders ................................................................................................................................... 79 Section XI.1 - Turner Syndrome ................................................................................................................................................. 82 Section XI.2 - Klinefelter Syndrome .......................................................................................................................................... 83 Section XII - Deletion syndromes ............................................................................................................................................... 84 Section XII.1 - Cri-du-chat ......................................................................................................................................................... 86 Section XII.2 - Williams Syndrome ............................................................................................................................................ 87 Section XII.3 - DiGeorge Syndrome........................................................................................................................................... 88METABOLISM .....................................................................................................................91 Section I - Hexokinase & Glucokinase ....................................................................................................................................... 91 Section II - Glycolysis ................................................................................................................................................................ 93 Section III - Pyruvate Metabolism .............................................................................................................................................. 96 Section IV - The Tricarboxylic Acid Cycle ................................................................................................................................ 98 Section V - The Electron Transport Chain ................................................................................................................................ 100 Section VI - Gluconeogenesis ................................................................................................................................................... 102 Section VII - Glycogen ............................................................................................................................................................. 104 Section VII.1 - Von Gierke & Cori ........................................................................................................................................... 107 Section VII.1 - Pompe & Mcardle ............................................................................................................................................ 108 Section VIII - Fructose .............................................................................................................................................................. 109 Section IX - Galactose .............................................................................................................................................................. 112 Section X - Hexose Monophosphate Pathway .......................................................................................................................... 114 Section XI - Fatty Acid Metabolism ......................................................................................................................................... 116 Section XII - Ketone Bodies ..................................................................................................................................................... 119 Section XIII - Ethanol Metabolism ........................................................................................................................................... 121 Section XIV - Lipid Transport .................................................................................................................................................. 123 Section XV - Homocysteine Metabolism ................................................................................................................................. 126 Section XVI - Purines & Pyrimidines ....................................................................................................................................... 128 Section XVII - Ammonia .......................................................................................................................................................... 131 Section XVIII - Amino Acids ................................................................................................................................................... 134 Section XIX - Lysosomal Storage Diseases .............................................................................................................................. 137 Section XIX.1 - Tay-Sachs & Niemann-Pick Disease .............................................................................................................. 139 Section XIX.2 - Fabry Disease ................................................................................................................................................. 140 Section XIX.3 - Metachromatic Leukodystrophy ..................................................................................................................... 141 Section XIX.4 - Krabbe Disease ............................................................................................................................................... 142 Section XIX.5 - Gaucher Disease ............................................................................................................................................. 143 Section XIX.6 - Hurler & Hunter Syndrome ............................................................................................................................ 144 Section XX - Nutrition .............................................................................................................................................................. 145 Section XX.1 - Thiamine ......................................................................................................................................................... 147 Section XX.2 - Riboflavin (B2) ............................................................................................................................................... 148 Section XX.3 - Niacin (B3) ..................................................................................................................................................... 149 Section XX.4 - Pantothenic Acid (B5)..................................................................................................................................... 150 Section XX.5 - Pyridoxine (B6)............................................................................................................................................... 151 Section XX.6 - Biotin (B7) ...................................................................................................................................................... 152 Section XX.7 - Folate (B9) ...................................................................................................................................................... 153 Section XX.8 - Cobalamin (B12)............................................................................................................................................. 154 Section XX.9 - Vitamin C ........................................................................................................................................................ 155 Section XX.10 - Vitamin A ...................................................................................................................................................... 156 Section XX.11 - Vitamin D ...................................................................................................................................................... 157 Section XX.12 - Vitamin E ...................................................................................................................................................... 158 Section XX.13 - Vitamin K ....................................................................................................................................................... 159 Section XX.14 - Zinc ................................................................................................................................................................ 160