基本説明
For the USMLE exam prepaertion.
Full Description
High-Yield Genetics is an important addition to the High-Yield Series, which medical students rely on heavily to review for the USMLE. This new volume provides a concise, clinically oriented summary of genetics in the popular High-Yield outline format. The book is generously illustrated with schematic line drawings as well as photographs of the most clinically relevant diseases. Illustrations appear at the end of each chapter in a multi-panel figure, similar to a mini-atlas.
Contents
The Human Nuclear GenomeI. General FeaturesII. Protein-Coding Genes III. RNA-Coding Genes IV. Epigenetic Control DNA PackagingI. The Biochemistry of Nucleic AcidsII. Levels of DNA PackagingIII. Centromere IV. Heterochromatin and EuchromatinProtein Synthesis I. General Features II. TranscriptionIII. Processing the RNA Transcript into mRNA Chromosome Replication II. The Replication Process III. The TelomereIV. Types of DNA Damage and DNA Repair Mendelian Inheritance I. Autosomal Dominant InheritanceII. Autosomal Recessive Inheritance III. X-Linked Dominant InheritanceIV. X-Linked Recessive Inheritance VI. Selected Photographs of Mendelian Inherited DisordersUniparental Disomy and Trinucleotide Repeats I. Uniparental Disomy II. Unstable Expanding Repeat Mutations (Dynamic Mutations)III. Highly Expanded Repeats Outside the Gene IV. Moderately Expanded CAG Repeats Inside the Gene Multifactorial Inherited DiseasesI. Introduction II. Classes of Multifactorial TraitsIII. Factors Affecting Recurrence RisksIV. Some Common Multifactorial Conditions Mitochondrial InheritanceI. Mitochondrial Function II. The Human Mitochondrial Genome III. The Protein-Coding Genes IV. The RNA-Coding GenesV. Other Mitochondrial ProteinsVI. Mutation Rate VII. Mitochondrial InheritanceVIII. Mitochondrial Diseases Mitosis, Meiosis, and GametogenesisI. MitosisII. CheckpointsIII. Meiosis IV. Oogenesis: Female Gametogenesis V. SpermatogenesisChromosome Morphology MethodsI. Studying Human ChromosomesII. Staining of ChromosomesIII. Chromosome Appearance IV. Chromosome NomenclatureCytogenetic DisordersI. Numerical Chromosomal AnomaliesII. Structural Chromosomal AbnormalitiesIII. Summary Table of Cytogenetic Disorders IV. Selected Photographs of Cytogenetic Disorders Population GeneticsI. General FeaturesII. The Hardy-Weinberg LawIII. Hardy-Weinberg and Autosomal Dominant InheritanceIV. Hardy-Weinberg and Autosomal Recessive InheritanceV. Hardy-Weinberg and X-Linked RecessiveVI. Summary Table of Hardy-Weinberg CalculationsDevelopmental GeneticsI. Causes of Human Birth Defects II. Types of Human Birth DefectsIII. Patterns of Human Birth DefectsDetermination of the Left/Right (L/R) AxisV. Determination of the Anterior/Posterior (A/P) AxisVI. Growth and DifferentiationVII. Formation of the Extracellular Matrix (ECM)VIII. Neural Crest Cell MigrationIX. Photographs of Birth Defects Associated with VariousDevelopmental ProcessesMetabolic GeneticsI. Introduction II. Metabolic Genetic Disorders Involving Carbohydrate PathwaysIII. Metabolic Genetic Disorders Involving Amino Acid Pathways IV. Metabolic Genetic Disorders Involving the Urea Cycle PathwayV. Metabolic Genetic Disorders Involving Transport PathwaysMetabolic Genetic Disorders Involving Degradation PathwaysVII. Summary Tables of Metabolic Genetic DisordersVIII. Selected Photographs of Metabolic Genetic Disorders Genetic TestingI. Genetic ScreeningII. Principles of Genetic ScreeningIII. Types of Genetic ScreeningIV. Some Examples of Genetic ScreeningReproductive Risk AssessmentI. Autosomal Dominant InheritanceII. Autosomal Recessive InheritanceIII. X-Linked Recessive InheritanceIV. ConsanguinityIndex
