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The Biochemistry of Nucleic Acids 12
Heterochromatin and Euchromatin 13
Types of DNA Damage and DNA Repair 20
Summary Table of DNA Machinery 21
Autosomal Dominant Inheritance 26
Autosomal Recessive Inheritance 28
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X-Linked Dominant Inheritance 30
X-Linked Recessive Inheritance 31
X Chromosome Inactivation and X-linked Inheritance 33
The Family Pedigree in Various Mendelian Inherited
Disorders 34
Selected Photographs of Mendelian Inherited Disorders 34
UNIPARENTAL DISOMY AND REPEAT MUTATIONS
Unstable Expanding Repeat Mutations
(Dynamic Mutations) 45
Highly Expanded Repeats Outside the Gene 46
Moderately Expanded CAG Repeats Inside the Gene 47
The Human Mitochondrial Genome 53
Other Mitochondrial Proteins 54
Examples of Mitochondrial Disorders 55
Selected Photographs of Mitochondrial
Inherited Disorders 57
MULTIFACTORIAL INHERITED DISORDERS
Classes of Multifactorial Traits 63
Factors Affecting Recurrence Risks in Multifactorial Inherited
Disorders 64
Some Common Multifactorial Conditions 65
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Hardy-Weinberg and Autosomal Dominant Inheritance 74
Hardy-Weinberg and Autosomal Recessive Inheritance 75
Hardy-Weinberg and X-linked Dominant Inheritance 76
Hardy-Weinberg and X-linked Recessive Inheritance 76
Mutation-Selection Equilibrium 77
MITOSIS, MEIOSIS, AND GAMETOGENESIS
Oogenesis: Female Gametogenesis 87
Spermatogenesis: Male Gametogenesis is Classically
Divided into 3 Phases 88
Comparison Table of Meiosis and Mitosis 88
CHROMOSOMAL MORPHOLOGY METHODS
Numerical Chromosomal Abnormalities 101
Structural Chromosomal Abnormalities 103
Summary Table of Cytogenetic Disorders 110
Selected Photographs of Cytogenetic Disorders 110
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Metabolic Genetic Disorders Involving
Carbohydrate Pathways 123
Metabolic Genetic Disorders Involving Amino
Acid Pathways 125
Metabolic Genetic Disorders Involving Lipid Pathways 126
Metabolic Genetic Disorders Involving the Urea
Cycle Pathway 128
Metabolic Genetic Disorders Involving
Transport Pathways 128
Metabolic Genetic Disorders Involving
Degradation Pathways 130
Summary Tables of Metabolic Genetic Disorders 131
Selected Photographs of Metabolic Genetic Disorders 131
GENETICS OF HEMOGLOBINOPATHIES
Characteristics of Hemoglobin (Hb) 140
Summary Table of Hemoglobinopathies 143
Selected Photomicrographs of Hemoglobinopathies 144
GENETICS OF BLEEDING DISORDERS
Hemophilia A (Factor VIII Deficiency) 147
Hemophilia B (Factor IX Deficiency; Christmas Disease) 148
von Willebrand Disease (VWD) 148
Summary Table of Laboratory Findings in
Bleeding Disorders 149
Summary Table of Bleeding Disorders 150
Causes of Human Birth Defects 153
Types of Human Birth Defects 153
Patterns of Human Birth Defects 154
Determination of the Left/Right (L/H) Axis 154
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Determination of the Anterior/Posterior (A/P) Axis 155
Growth and Differentiation 156
Formation of the Extracellular Matrix (ECM) 159
Neural Crest Cell Migration 160
Summary Table of Developmental Disorders 162
Selected Photographs of Developmental Disorders 165
The Development of Cancer (Oncogenesis) 169
Proto-oncogenes and Oncogenes 173
Hereditary Cancer Syndromes 174
Loss of Heterozygosity (LOH) 177
Photographs of Selected Cancers 181
Principles of Genetic Screening 185
Limitations of Genetic Screening 185
Preimplantation Genetic Screening (PGS) 186
Prenatal Genetic Screening 187
Neonatal Genetic Screening 188
Population Genetic Screening 192
Methods Used for Genetic Testing 194
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