High-yield genetics

著者

書誌事項

High-yield genetics

Ronald W. Dudek, John E. Wiley

(High-yield series)

Wolters Kluwer Health/Lippincott Williams & Wilkins, c2009

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注記

Includes index

内容説明・目次

内容説明

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.

目次

The Human Nuclear Genome I. General Features II. Protein-Coding Genes III. RNA-Coding Genes IV. Epigenetic Control DNA Packaging I. The Biochemistry of Nucleic Acids II. Levels of DNA Packaging III. Centromere IV. Heterochromatin and Euchromatin Protein Synthesis I. General Features II. Transcription III. Processing the RNA Transcript into mRNA Chromosome Replication II. The Replication Process III. The Telomere IV. Types of DNA Damage and DNA Repair Mendelian Inheritance I. Autosomal Dominant Inheritance II. Autosomal Recessive Inheritance III. X-Linked Dominant Inheritance IV. X-Linked Recessive Inheritance VI. Selected Photographs of Mendelian Inherited Disorders Uniparental 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 Diseases I. Introduction II. Classes of Multifactorial Traits III. Factors Affecting Recurrence Risks IV. Some Common Multifactorial Conditions 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. Mitochondrial Diseases Mitosis, Meiosis, and Gametogenesis I. Mitosis II. Checkpoints III. Meiosis IV. Oogenesis: Female Gametogenesis V. Spermatogenesis Chromosome Morphology Methods I. Studying Human Chromosomes II. Staining of Chromosomes III. Chromosome Appearance IV. Chromosome Nomenclature Cytogenetic Disorders I. Numerical Chromosomal Anomalies II. Structural Chromosomal Abnormalities III. Summary Table of Cytogenetic Disorders IV. Selected Photographs of Cytogenetic Disorders 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 Recessive VI. Summary Table of Hardy-Weinberg Calculations Developmental Genetics I. Causes of Human Birth Defects II. Types of Human Birth Defects III. Patterns of Human Birth Defects Determination of the Left/Right (L/R) 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. Photographs of Birth Defects Associated with Various Developmental Processes Metabolic Genetics I. Introduction II. Metabolic Genetic Disorders Involving Carbohydrate Pathways III. Metabolic Genetic Disorders Involving Amino Acid Pathways IV. Metabolic Genetic Disorders Involving the Urea Cycle Pathway V. Metabolic Genetic Disorders Involving Transport Pathways Metabolic Genetic Disorders Involving Degradation Pathways VII. Summary Tables of Metabolic Genetic Disorders VIII. Selected Photographs of Metabolic Genetic Disorders Genetic Testing I. Genetic Screening II. Principles of Genetic Screening III. Types of Genetic Screening IV. Some Examples of Genetic Screening Reproductive Risk Assessment I. Autosomal Dominant Inheritance II. Autosomal Recessive Inheritance III. X-Linked Recessive Inheritance IV. Consanguinity Index

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