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Dudek. BRS Genetics. 1e. 2010.

0. CONTENTS - Notes : PDF - Google+ - ZIP
1. THE HUMAN NUCLEAR GENOME


I. General Features
II. Protein-Coding Genes
III. RNA-Coding Genes
IV. Epigenetic Control
V. Noncoding DNA
2. DNA PACKAGING
I. The Biochemistry of Nucleic Acids
II. Levels of DNA Packaging
III. Centromere
IV. Heterochromatin and Euchromatin
3. CHROMOSOME REPLICATION
I. General Features
II. The Replication Process
III. The Telomere
IV. Types of DNA Damage and DNA Repair
V. Summary Table of DNA Machinery
4. MENDELIAN INHERITANCE
I. Autosomal Dominant Inheritance
II. Autosomal Recessive Inheritance
III. X-Linked Dominant Inheritance
IV. X-Linked Recessive Inheritance
V. X Chromosome Inactivation and X-linked Inheritance
VI.The Family Pedigree in Various Mendelian Inherited Disorders
VII.Selected Photographs of Mendelian Inherited Disorders
5. UNIPARENTAL DISOMY AND REPEAT MUTATIONS
I. Uniparental Disomy (UPD)
II. Unstable Expanding Repeat Mutations (Dynamic Mutations)
III. Highly Expanded Repeats Outside the Gene
IV. Moderately Expanded CAG Repeats Inside the Gene
6. MITOCHONDRIAL INHERITANCE
I. Mitochondrial Function
II. The Human Mitochondrial Genome
III. The Protein-Coding Genes
IV. The RNA-Coding Genes
V. Other Mitochondrial Proteins
VI.Mutation Rate
VII.Mitochondrial Inheritance
VIII.Examples of Mitochondrial Disorders
IX. Selected Photographs of Mitochondrial Inherited Disorders
7. MULTIFACTORIAL INHERITED DISORDERS
I. Introduction
II. Classes of Multifactorial Traits
III. Factors Affecting Recurrence Risks in Multifactorial Inherited Disorders
IV. Some Common Multifactorial Conditions
8. POPULATION GENETICS
I. General Features
II. The Hardy-Weinberg Law
III. Hardy-Weinberg and Autosomal Dominant Inheritance
IV. Hardy-Weinberg and Autosomal Recessive Inheritance
V. Hardy-Weinberg and X-linked Dominant Inheritance
VI.Hardy-Weinberg and X-linked Recessive Inheritance
VII.Mutation-Selection Equilibrium
VIII.Linkage
9. MITOSIS, MEIOSIS, AND GAMETOGENESIS
I. Mitosis
II. Checkpoints
III. Meiosis
IV. Oogenesis: Female Gametogenesis
V. Spermatogenesis: Male Gametogenesis is Classically Divided into 3 Phases
VI.Comparison Table of Meiosis and Mitosis
10. CHROMOSOMAL MORPHOLOGY METHODS
I. Studying Human Chromosomes
II. Staining of Chromosomes
III. Chromosome Morphology
IV. Chromosome Nomenclature
11. CYTOGENETIC DISORDERS
I. Numerical Chromosomal Abnormalities
II. Structural Chromosomal Abnormalities
III. Summary Table of Cytogenetic Disorders
IV. Selected Photographs of Cytogenetic Disorders
12. GENETICS OF METABOLISM
I. Introduction
II. Metabolic Genetic Disorders Involving Carbohydrate Pathways
III. Metabolic Genetic Disorders Involving Amino Acid Pathways
IV. Metabolic Genetic Disorders Involving Lipid Pathways
V. Metabolic Genetic Disorders Involving the Urea Cycle Pathway
VI.Metabolic Genetic Disorders Involving Transport Pathways
VII.Metabolic Genetic Disorders Involving Degradation Pathways
VIII.Summary Tables of Metabolic Genetic Disorders
IX. Selected Photographs of Metabolic Genetic Disorders
13. GENETICS OF HEMOGLOBINOPATHIES
I. Characteristics of Hemoglobin (Hb)
II. Sickle Cell Disease (SCD)
III. Alpha-Thalassemia
IV. Beta-Thalassemia
V. Summary Table of Hemoglobinopathies
VI.Selected Photomicrographs of Hemoglobinopathies
14. GENETICS OF BLEEDING DISORDERS
I. Hemophilia A (Factor VIII Deficiency)
II. Hemophilia B (Factor IX Deficiency; Christmas Disease)
III. von Willebrand Disease (VWD)
IV. Summary Table of Laboratory Findings in Bleeding Disorders
V. Summary Table of Bleeding Disorders
15. GENETICS OF DEVELOPMENT
I. Causes of Human Birth Defects
II. Types of Human Birth Defects
III. Patterns of Human Birth Defects
IV. Determination of the Left/Right (L/H) Axis
V. Determination of the Anterior/Posterior (A/P) Axis
VI. Growth and Differentiation
VII. Formation of the Extracellular Matrix (ECM)
VIII.Neural Crest Cell Migration
IX. Summary Table of Developmental Disorders
X.Selected Photographs of Developmental Disorders
16. GENETICS OF CANCER
I. The Development of Cancer (Oncogenesis)
II. Phases of the Cell Cycle 
III. Control of the Cell Cycle
IV. Proto-oncogenes and Oncogenes
V. Tumor-Suppressor Genes 
VI. Hereditary Cancer Syndromes
VII. Loss of Heterozygosity (LOH)
VIII.Photographs of Selected Cancers
17. GENETIC SCREENING
I. Principles of Genetic Screening
II. Limitations of Genetic Screening 
III. Preimplantation Genetic Screening (PGS)
IV. Prenatal Genetic Screening
V. Neonatal Genetic Screening
VI. Family Genetic Screening 
VII. Population Genetic Screening
VIII.Methods Used for Genetic Testing 
18. CONSANGUINITY
Consanguinity