An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases

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John Wiley & Sons, 14/06/2005 - 672 páginas
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.
 

Índice

chapter 1 Understanding Human Disease
1
chapter 2 The Genetic System Chromosomes
19
chapter 3 The Genetic System Mendels Laws of Inheritance and Genetic Linkage
37
chapter 4 The Molecular Biology of the Gene
75
chapter 5 Recombinant DNA Technology
107
chapter 6 Genetic and Physical Mapping of the Human Genome
153
chapter 7 Discovering Human Disease Genes
189
chapter 8 Bioinformatics Genomics Functional Genomics and Proteomics
203
chapter 11 Genomic Imprinting An Epigenetic Modification
333
chapter 12 Molecular Genetics of Mitochondrial Disorders
349
chapter 13 Molecular Genetics of Muscle Disorders
369
chapter 14 Molecular Genetics of Neurological Disorders
393
chapter 15 Molecular Genetics of the Eye
439
chapter 16 Molecular Genetics of Cancer Syndromes
471
chapter 17 Counseling Diagnostic Testing and Management of Genetic Disorders
517
Glossary
557

chapter 9 Human Population Genetics
229
chapter 10 Molecular Genetics of Complex Disorders
295

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Palavras e frases frequentes

Passagens conhecidas

Página iv - Our doubts are traitors, And make us lose the good we oft might win, By fearing to attempt.
Página iv - ... if we begin with certainties, we shall end in doubts; but if we begin with doubts, and are patient in them, we shall end in certainties.

Acerca do autor (2005)

Dr. Jack J. Pasternak received his Ph.D. from Indiana University and is now Professor Emeritus at the University of Waterloo. He has authored or co-authored several textbooks, including Molecular Biotechnology: Principles and Applications of Recombinant DNA.

Informação bibliográfica