An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases
http://www.100md.com
《新英格兰医药杂志》
The identification of the sequence of the human genome has unveiled the existence of 25,000 to 35,000 genes, but the functions of most of their products are still shrouded in mystery. Advances in genomics, proteomics, and the emerging field of lipidomics have raised hopes of having new ways of understanding the genetic basis of disease. Many intriguing findings about mendelian disease loci have surfaced over the past two decades, reinforcing the belief that simple mendelian inheritance is often not so simple. These recent developments are only a few of the reasons why the second edition of An Introduction to Human Molecular Genetics is an indispensable and timely textbook.
Discussion of the profound implications of the Human Genome Project is just one feature of this book. Like the previous edition, the book contains comprehensive discussions of mendelian inheritance, the molecular biology of the gene, and recombinant DNA technology and covers the genetic basis of mitochondrial diseases, muscle and neurologic disorders, ocular diseases, and cancer. The chapter on the mapping of the human genome is particularly thorough, up to date, and well written, which helps the reader crystallize intricate concepts.
This second edition has several new chapters. One, concerning bioinformatics, features the advent of genomics and proteomics and their contributions as new fields. Another engaging chapter emphasizes that about 75 percent of the inherited disorders that are evident at birth or soon thereafter, and most arising later in life, are multifactorial. This chapter offers insights into oligogenic and polygenic inheritance, as well as phenotypic variation within monogenic conditions — all of which are vivid testimony to the intricacy of genetic disorders. Other important additions to the second edition are the chapters on human population genetics and on genomic imprinting. The latter chapter illustrates how epigenetic processes can impart an additional level of complexity to regulatory systems.
The concluding chapter, another addition, concerns genetic testing and genetic counseling. It includes a discussion of the prevention of genetic discrimination by insurance providers and employers. In light of the plethora of information recently provided by the sequencing of the human genome, future editions of this book would benefit from a more comprehensive discussion of predictive genetic testing and its ethical, social, and legal ramifications. Genetic testing has profoundly affected society by increasing the gap between our ability to identify genetic risk and our ability to ameliorate it. Passionate discussions surround issues such as genetic testing in children, ownership of genetic material, and whether genetic information should be treated differently from routine medical information.
An Introduction to Human Molecular Genetics will be a useful resource for medical and dental students, as well as for advanced undergraduates and graduate students, research scientists, and physicians. The abundance of clearly presented information renders this textbook a chef d'uvre.
Richard A. Stein, M.D., Ph.D.
University of Wisconsin
Madison, WI 53792
rstein2@wisc.edu(Second edition. By Jack J)
Discussion of the profound implications of the Human Genome Project is just one feature of this book. Like the previous edition, the book contains comprehensive discussions of mendelian inheritance, the molecular biology of the gene, and recombinant DNA technology and covers the genetic basis of mitochondrial diseases, muscle and neurologic disorders, ocular diseases, and cancer. The chapter on the mapping of the human genome is particularly thorough, up to date, and well written, which helps the reader crystallize intricate concepts.
This second edition has several new chapters. One, concerning bioinformatics, features the advent of genomics and proteomics and their contributions as new fields. Another engaging chapter emphasizes that about 75 percent of the inherited disorders that are evident at birth or soon thereafter, and most arising later in life, are multifactorial. This chapter offers insights into oligogenic and polygenic inheritance, as well as phenotypic variation within monogenic conditions — all of which are vivid testimony to the intricacy of genetic disorders. Other important additions to the second edition are the chapters on human population genetics and on genomic imprinting. The latter chapter illustrates how epigenetic processes can impart an additional level of complexity to regulatory systems.
The concluding chapter, another addition, concerns genetic testing and genetic counseling. It includes a discussion of the prevention of genetic discrimination by insurance providers and employers. In light of the plethora of information recently provided by the sequencing of the human genome, future editions of this book would benefit from a more comprehensive discussion of predictive genetic testing and its ethical, social, and legal ramifications. Genetic testing has profoundly affected society by increasing the gap between our ability to identify genetic risk and our ability to ameliorate it. Passionate discussions surround issues such as genetic testing in children, ownership of genetic material, and whether genetic information should be treated differently from routine medical information.
An Introduction to Human Molecular Genetics will be a useful resource for medical and dental students, as well as for advanced undergraduates and graduate students, research scientists, and physicians. The abundance of clearly presented information renders this textbook a chef d'uvre.
Richard A. Stein, M.D., Ph.D.
University of Wisconsin
Madison, WI 53792
rstein2@wisc.edu(Second edition. By Jack J)