High-Yield Genetics

By: Dudek Wiley

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Paperback | 18 August 2008 | Edition Number 1

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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. http://thepoint.lww.com/product/isbn/9780781768771

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The Human Nuclear Genome
General Features
Protein-Coding Genes
RNA-Coding Genes
Epigenetic ControlDNA Packaging
The Biochemistry of Nucleic Acids
Levels of DNA Packaging
Centromere
Heterochromatin and EuchromatinProtein Synthesis
General Features
Transcription
Processing the RNA Transcript into RNAChromosome
Replication
The Replication Process
The Telomere
Types of DNA Damage and DNA RepairMendelian Inheritance
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-Linked Dominant Inheritance
X-Linked Recessive Inheritance
Selected Photographs of Mendelian Inherited DisordersUniparental Disomy and Trinucleotide Repeats
Uniparental Disomy
Unstable Expanding Repeat Mutations (Dynamic Mutations)
Highly Expanded Repeats Outside the Gene
Moderately Expanded CAG Repeats Inside the GeneMultifactorial Inherited Diseases
Introduction
Classes of Multifactorial Traits
Factors Affecting Recurrence Risks
Some Common Multifactorial ConditionsMitochondrial Inheritance
Mitochondrial Function
The Human Mitochondrial Genome
The Protein-Coding Genes
The RNA-Coding Genes
Other Mitochondrial Proteins
Mutation Rate
Mitochondrial Inheritance
Mitochondrial DiseasesMitosis, Meiosis, and Gametogenesis
Mitosis
Checkpoints
Meiosis
Oogenesis: Female Gametogenesis
SpermatogenesisChromosome Morphology Methods
Studying Human Chromosomes
Staining of Chromosomes
Chromosome Appearance
Chromosome NomenclatureCytogenetic Disorders
Numerical Chromosomal Anomalies
Structural Chromosomal Abnormalities
Summary Table of Cytogenetic Disorders
Selected Photographs of Cytogenetic DisordersPopulation Genetics
General Features
The Hardy-Weinberg Law
Hardy-Weinberg and Autosomal Dominant Inheritance
Hardy-Weinberg and Autosomal Recessive Inheritance
Hardy-Weinberg and X-Linked Recessive
Summary Table of Hardy-Weinberg CalculationsDevelopmental Genetics
Causes of Human Birth Defects
Types of Human Birth Defects
Patterns of Human Birth Defects
Determination of the Left/Right (L/R) Axis
Determination of the Anterior/Posterior (A/P) Axis
Growth and Differentiation
Formation of the Extracellular Matrix (ECM)
Neural Crest Cell Migration
Photographs of Birth Defects Associated with Various Developmental ProcessesMetabolic Genetics
Introduction
Metabolic Genetic Disorders Involving Carbohydrate Pathways
Metabolic Genetic Disorders Involving Amino Acid Pathways
Metabolic Genetic Disorders Involving the Urea Cycle Pathway
Metabolic Genetic Disorders Involving Transport Pathways
Metabolic Genetic Disorders Involving Degradation Pathways
Summary Tables of Metabolic Genetic Disorders
Selected Photographs of Metabolic Genetic DisordersGenetic Testing
Genetic Screening
Principles of Genetic Screening
Types of Genetic Screening
Some Examples of Genetic ScreeningReproductive Risk Assessment
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-Linked Recessive Inheritance
Consanguinity
Index
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