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This text provides a concise discussion of contemporary and relevant topics in human genetics.
The Basics of Heredity: The Answer in a Nut Shell: Genes, Proteins, and the Meaning of Life. Mendel and the Concept of the Gene. How Genes Work: The Story of How Genes Encode Proteins or "The Central Dogma of Molecular Biology." How Genes Move: Chromosomes and the Physical Basis of the Laws of Mendel. Absent Essentials and Monkey Wrenches: How Mutations Produce a Phenotype. How Genes Determine Our Sex. Sex and Chromosomes, Sex and Hormones, Sex and... Sex Causes Problems: The Inactivation of the Second X Chromosome. Gender Identity and Sexual Orientation. When Meiosis or Mendelian Inheritance Fails. Failed Chromosome Segregation and the Etiology of Down's Syndrome. Extreme Mutation: Triplet Repeat Syndromes. Imprinting or Epigenetic Changes in Genes and Chromosomes. Human Genes. Introduction to Gene Cloning. DNA Polymorphisms as Genetic Markers in Humans (and the Miracle of PCR). Human Gene Mapping: A General Approach. Cystic Fibrosis, Mammoth Genes: Muscular Dystrophy and Neurofibromatosis. Genes and Cancer. Interactions of Genes and the Environment. Multifactorial Inheritance: Towards Finding the Genes for Manic Depression and Schizophrenia. The Monoamine Oxidose A Gene and a Genetic Basis for Criminality? Genetics of the Human AIDS Virus. Prenatal Diagnosis. Methods of Prenatal Diagnosis. Potential for Gene Therapy. Epilogue: Fears, Faith and Fantasies.
R. Scott Hawley is Senior Scientist at the Stowers Institute for Medical Research in Kansas City, Missouri. Prior to that, he was a Professor of Genetics at the University of California at Davis. Before moving to UC Davis in 1991, he was on the faculty at Albert Einstein College of Medicine for nine years. His research interests include the etiology of birth defects and the genetics of cancer. He has published more than 50 articles in scientific journals. He has taught human genetics to undergraduates (both non-biology majors and biology majors), graduate students, and medical students. Catherine Mori is an accomplished health education writer. Her previous writing has concentrated on drug- and alcohol-related risks to health and on the treatment and prevention of drug and alcohol addiction. Her interest in human genetics began when she attended Dr. Hawley's Human Genetics course for non-majors at UC Davis. She has worked extensively as a management consultant in the private sector and is currently working at IBM Global Services in Mountain View, California.
"A very complex subject is broken into understandable pieces and then put back together to form a complicated but comprehensible whole."
– Library Journal (November 1999)
" [...] an excellent guide to the advances made in human genetics and their relevance to daily life. It is both reasonably accessible to general audiences and unlikely to cause specialist readers to cringe. The engaging, informal style of this book is most apparent in its unusual use of asides, set off in italics [...] Far from being distracting, the asides are an unexpected bonus [...] [In the section on sex determination,] Hawley and Mori are willing to tackle controversial and sensitive issues (e.g., the genetics of sexual orientation). They approach these topics with accuracy, fairness, and compassion."
– Trends In Genetics (April 1999)
"The examples are excellent and the topics covered are just the ones you'd like to see [...] There is a real need for a text on this topic that goes beyond the very introductory concepts, but is not so advanced as to be unusable outside an advanced genetics course. This book clearly fits that need."
– Robert Holmgren, Northwestern University
"This textbook relates the WOW! aspects of human genetics [...] It will be a valuable resource for teachers and students who want to, and need to, understand human genetics at a basic level so as to unravel new findings reported in the lay press on a daily basis."
– Stephanie Sherman, Emory University School of Medicine
"[...] a wonderful addition to the human genetics landscape."
– Terry Hassold, Case Western Reserve University