Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases / Edition 2

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Overview

Human molecular genetics is the field of study focused on the functions of the human genetic system in relation to inherited diseases. An Introduction to Human Molecular Genetics, Second Edition examines how human genes are discovered and how disease genes cause particular disorders. This revised edition offers a comprehensive human molecular genetics text within a modern systems approach that focuses attention on the affected tissues and organs, and also reinforces their function in a clinical context.

Textbook format w/chpt. summaries, review questions; richly illust., reviews genetic system & Mendel's law; mapping; etc

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Editorial Reviews

Doody's Review Service
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: This is the second edition of an entry level introduction to basic human genetics. The previous edition was published in 1999.
Purpose: The author accomplishes the difficult task of describing the complex field of human genetics in simple terms. The book is designed to provide undergraduate and early graduate students a guide to a systematic review of human genetics in general, with an emphasis on molecular genetics technology. This wonderful review succeeds in presenting a complex field at a comprehensible level that will not intimidate readers unfamiliar with it.
Audience: The author intends this book for early learners, but it also represents a tremendous guide for teachers and instructors of human genetics courses. Advance students in graduate school may find it a remarkable source to review the basic concepts of human genetics in preparation for future learning or certification exams. This textbook should find fans in undergraduate programs, but also in medical schools.
Features: Although the early chapters deal with basic concepts, subsequent chapters provide a wonderful review of more complex subjects such as molecular aspects of muscle, mitochondrial, eye, and neurologic disorders. Each chapter is followed by a helpful summary and review questions that help quick memorization of information. All is supported by a magnificent selection of illustrations.
Assessment: Congratulations are due to the author for providing a wonderful and useful textbook of human molecular genetics.
From the Publisher
"With over 600 pages, this book provides students and professionals in life sciences, pharmacy and biochemistry with all they need to know about molecular biotechnology." (NewsRx, 30 September 2011)

"...very readable...I would recommend this text to students studying human molecular genetics as well as those involved in their instruction." (American Journal of Medical Genetics, June 15, 2006)

"...tailor-made to address...[the] need for a textbook...more focused on the nature and characterization of common, classical genetic diseases...an excellent book that will be applicable to a wide range of students." (The Quarterly Review of Biology, June 2006)

"An excellent course book or text to read for updating the established investigator." (American Journal of Therapeutics, March/April 2006)

"This book would make a worthy addition to any geneticist's library." (Clinical Chemistry, February 2006)

"The abundance of clearly presented information renders this textbook a chef d'oeuvre." (New England Journal of Medicine, January 5, 2006)

From The Critics
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: This is the second edition of an entry level introduction to basic human genetics. The previous edition was published in 1999.
Purpose: The author accomplishes the difficult task of describing the complex field of human genetics in simple terms. The book is designed to provide undergraduate and early graduate students a guide to a systematic review of human genetics in general, with an emphasis on molecular genetics technology. This wonderful review succeeds in presenting a complex field at a comprehensible level that will not intimidate readers unfamiliar with it.
Audience: The author intends this book for early learners, but it also represents a tremendous guide for teachers and instructors of human genetics courses. Advance students in graduate school may find it a remarkable source to review the basic concepts of human genetics in preparation for future learning or certification exams. This textbook should find fans in undergraduate programs, but also in medical schools.
Features: Although the early chapters deal with basic concepts, subsequent chapters provide a wonderful review of more complex subjects such as molecular aspects of muscle, mitochondrial, eye, and neurologic disorders. Each chapter is followed by a helpful summary and review questions that help quick memorization of information. All is supported by a magnificent selection of illustrations.
Assessment: Congratulations are due to the author for providing a wonderful and useful textbook of human molecular genetics.
From The Critics
Reviewer: Luis F. Escobar, MD, MS(St. Vincent Hospital and Health Care Center)
Description: This is the second edition of an entry level introduction to basic human genetics. The previous edition was published in 1999.
Purpose: The author accomplishes the difficult task of describing the complex field of human genetics in simple terms. The book is designed to provide undergraduate and early graduate students a guide to a systematic review of human genetics in general, with an emphasis on molecular genetics technology. This wonderful review succeeds in presenting a complex field at a comprehensible level that will not intimidate readers unfamiliar with it.
Audience: The author intends this book for early learners, but it also represents a tremendous guide for teachers and instructors of human genetics courses. Advance students in graduate school may find it a remarkable source to review the basic concepts of human genetics in preparation for future learning or certification exams. This textbook should find fans in undergraduate programs, but also in medical schools.
Features: Although the early chapters deal with basic concepts, subsequent chapters provide a wonderful review of more complex subjects such as molecular aspects of muscle, mitochondrial, eye, and neurologic disorders. Each chapter is followed by a helpful summary and review questions that help quick memorization of information. All is supported by a magnificent selection of illustrations.
Assessment: Congratulations are due to the author for providing a wonderful and useful textbook of human molecular genetics.
Booknews
A textbook for an advanced undergraduate, introductory graduate, and basic medical school courses. For students shaky in the basics, Pasternak (biology, U. of Waterloo, Ontario) begins with chapters reviewing the fundamentals of genetics, focusing on cytogenics and Mendelian genetics. He examines how human genes are discovered and how the defective versions are found to cause a particular disorder. He includes a glossary without pronunciation guides. Annotation c. Book News, Inc., Portland, OR (booknews.com)
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Product Details

  • ISBN-13: 9780471474265
  • Publisher: Wiley
  • Publication date: 5/6/2005
  • Edition description: REV
  • Edition number: 2
  • Pages: 660
  • Product dimensions: 8.74 (w) x 11.00 (h) x 1.60 (d)

Meet the Author

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.

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Table of Contents

Preface.

Preface to the First Edition.

Chapter 1. Understanding Human Disease.

Chapter 2. the Genetic System: Chromosomes.

Chapter 3. the Genetic System: Mendel's Laws of Inheritance and Genetic Linkage.

Chapter 4. The Molecular Biology of the Gene.

Chapter 5. Recombinant DNA Technology.

Chapter 6. Genetic and Physical Mapping of the Human Genome.

Chapter 7. Discovering Human Disease Genes.

Chapter 8. Bioinformatics: Genomics, Functional Genomics, and Proteomics.

Chapter 9. Human Population Genetics.

Chapter 10. Molecular Genetics of Complex Disorders.

Chapter 11. Genomic Imprinting: An Epigenetic Modification.

Chapter 12. Molecular Genetics of Mitochondrial Disorders.

Chapter 13. Molecular Genetics of Muscle Disorders.

Chapter 14. Molecular Genetics of Neurological Disorders.

Chapter 15. Molecular Genetics of the Eye.

Chapter 16. Molecular Genetics of Cancer Syndromes.

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

Glossary.

Index.

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