An introduction to human molecular genetics mechanisms of inherited diseases 2nd Edition by Jack J Pasternak ISBN 0471719188 9780471719182

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ISBN 10: 0471719188

ISBN 13: 9780471719182 

Author: Jack J. Pasternak 

An Introduction to Human Molecular Genetics
Second Edition
Jack J. Pasternak
The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text.
The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics. Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. Readers will particularly appreciate the text’s exceptionally thorough and clear explanation of genetic mapping. The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. Throughout the text, helpful figures and diagrams illustrate and clarify complex material.
Readers familiar with the first edition will recognize the text’s same lucid and engaging style, and will find a wealth of new and expanded material that brings them fully up to date with a current understanding of the field, including:
* New chapters on complex genetic disorders, genomic imprinting, and human population genetics
* Expanded and fully revised section on clinical genetics, covering diagnostic testing, molecular screening, and various treatments
This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.

Table of contents:

Chapter 1: Understanding Human Disease

• Human Genetic Disease

• Human Genetics (1900–1957)

• Eugenics

• Molecularization of Genetics

• Genes and Phenotypes

• OMIM Database

• Key Terms, Summary, References, Review Questions

Chapter 2: The Genetic System: Chromosomes

• Human Chromosomes

• Maintaining Chromosome Number

• Mitotic and Meiotic Processes

• Chromosome Abnormalities (Aneuploidy, Structural Changes)

• Cell Cycle Phases

• Key Terms, Summary, References, Review Questions

Chapter 3: Mendel’s Laws and Genetic Linkage

• Dominance, Recessiveness, Segregation

• Independent Assortment

• Genetic Linkage & Maps

• Three-Point Cross

• Chi-Square Testing

• Multiple Alleles, Pedigree Analysis

• Mendelian Frequencies, Linkage Analysis (LOD Score)

• Key Terms, Summary, References, Review Questions

Chapter 4: Molecular Biology of the Gene

• Genetic Material & DNA Structure

• DNA Replication, RNA, Protein Translation

• mRNA Regulation

• Hemoglobinopathies, Thalassemias

• Gene Mutations (Nomenclature, Dominant Mutations)

• Key Terms, Summary, References, Review Questions

Chapter 5: Recombinant DNA Technology

• Restriction Enzymes

• Cloning Vectors (pUC19)

• DNA Hybridization & In Situ Techniques

• DNA Sequencing, PCR

• Somatic Cell Hybrids

• DNA Libraries (Genomic, Chromosomal, cDNA)

• Key Terms, Summary, References, Review Questions

Chapter 6: Genetic and Physical Mapping

• Genetic Polymorphism & Mapping

• STR, RFLP, Disease Gene Mapping

• Homozygosity & Linkage Disequilibrium

• Radiation Hybrid Mapping

• Physical Mapping (BAC Libraries, Contigs)

• Integration of Cytogenetic, Genetic, Physical Maps

• Key Terms, Summary, References, Review Questions

Chapter 7: Discovering Human Disease Genes

• Cloning Human Disease Genes (Functional & Positional)

• Mutation Detection (SSCP, DGGE, Heteroduplex, Capillary Electrophoresis)

• Protein Truncation Test & Sequencing

• Key Terms, Summary, References, Review Questions

Chapter 8: Bioinformatics: Genomics, Functional Genomics, Proteomics

• DNA Database Searches

• Functional Genomics, DNA Microarrays, Serial Analysis of Gene Expression

• Proteomics, Protein Profiling, Interaction Mapping

• Estimating Gene Numbers

• Key Terms, Summary, References, Review Questions

Chapter 9: Human Population Genetics

• Hardy–Weinberg Equilibrium

• Population Processes (Size, Structure, Migration, Mating)

• Inbreeding, Mutation, Selection, Founder Effect

• Genetic Drift, Neutral Theory, DNA Polymorphisms for History

• Key Terms, Summary, References, Review Questions

Chapter 10: Molecular Genetics of Complex Disorders

• Monogenic & Oligogenic Disorders

• Polygenic Inheritance

• Quantitative Trait Loci & Association Studies

• Genetics of Human Intelligence

• Key Terms, Summary, References, Review Questions

Chapter 11: Genomic Imprinting & Epigenetics

• Parent-of-Origin Effect, Gene Silencing

• Prader–Willi, Angelman, Beckwith–Wiedemann Syndromes

• X-Chromosome Inactivation

• Key Terms, Summary, References, Review Questions

Chapter 12: Molecular Genetics of Mitochondrial Disorders

• Mitochondrial Genetics & Disorders

• Myoclonus Epilepsy, MELAS, LHON, Kearns–Sayre Syndrome

• Nuclear-Encoded Mitochondrial Disorders

• Mitochondrial DNA Analysis

• Key Terms, Summary, References, Review Questions

Chapter 13: Molecular Genetics of Muscle Disorders

• Skeletal, Cardiac, Smooth Muscle

• Duchenne, Limb-Girdle, Congenital, Facioscapulohumeral Muscular Dystrophies

• Cardiac Muscle Disorders

• Key Terms, Summary, References, Review Questions

Chapter 14: Molecular Genetics of Neurological Disorders

• Neurons & Nervous System Cells

• Membrane Potential & Nerve Impulses

• Channelopathies, Alzheimer, Huntington, ALS, CMT, Prion Diseases

• Genetically Engineered Animal Models

• Schizophrenia

• Key Terms, Summary, References, Review Questions

Chapter 15: Molecular Genetics of the Eye

• Visual System & Eye Structure

• Phototransduction

• Inherited Eye Disorders (Corneal Dystrophies, Glaucoma, Aniridia, Cataracts, Retinitis Pigmentosa, Night Blindness, Choroideremia, Color Vision Defects, Myopia)

• Key Terms, Summary, References, Review Questions

Chapter 16: Molecular Genetics of Cancer Syndromes

• Cell Proliferation & Cancer

• Signal Transduction, Cell Cycle, Apoptosis

• Oncogenes & Tumor Suppressor Genes

• Syndromes (Neurofibromatoses, Breast Cancer, Retinoblastoma, Wilms Tumor, MEN1/2, Li–Fraumeni, Colorectal Cancer, Bloom, Xeroderma Pigmentosum)

• Key Terms, Summary, References, Review Questions

Chapter 17: Counseling, Diagnostic Testing, and Management of Genetic Disorders

• Genetic Counseling & Testing

• Principles & Methods

• Clinical Applications & Risk Assessment

• Screening Programs

• Treatment of Genetic Disorders (Williams, Norrie, Achondroplasia, FMF, Peutz–Jeghers, Smith–Lemli–Opitz, Wilson Disease)

• Genetic Privacy & Non-Discrimination

• Key Terms

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Tags: Jack J Pasternak, Introduction, Human Molecular Genetics, Mechanisms, Inherited Diseases