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Features of Physeo Biochemistry PDF
Following are the features of Physeo Biochemistry PDF:
MEDICAL COURSE AND STEP 1 REVIEW
FIRST EDITION
Accompanies online videos taught by Rhett Thomson & Michael Christensen.
physeo . com
Table of Contents:
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…………………………………………………………………………………………………………………………. 88
METABOLISM ………………………………………………………………………………………………………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
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