High-yield genetics
著者
書誌事項
High-yield genetics
(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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