Physeo Biochemistry

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