Vogel / Motulsky Vogel and Motulsky's Human Genetics

Problems and Approaches
3rd Auflage 1997
ISBN: 978-3-662-03356-2
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 851 Seiten, eBook

The first two editions of this book, published in 1979 and in 1986, were well re ceived by the scientific community. Translations into Italian, Japanese, and Rus sian suggest that this book was regarded useful in many parts of the world. Mean while, human genetics has seen dramatic developments, and the "molecular revo lution" has attracted thousands of scientists, including many molecular biologists, to this field. About 3700 human genes have already been mapped to chromosomal sites. Many such genes have been cloned, and the various mutations causing dis ease have been identified. Novel mutational mechanisms such as expanded trinu cleotide repeats have been discovered in conditions such as Huntington's disease and the fragile X syndrome of mental retardation. Gene action now can often be elucidated by studying the pathway from gene to phenotype following positional cloning rather than working in the opposite direction, as was customarily done be fore the tools of "new genetics"were available. In an increasing number of genetic diseases, the pathogenic mechanisms have been elucidated with positive conse quences for prevention and treatment. It therefore became necessary to rewrite al most completely major portions of this book. These developments are now making genetics arguably the leading basic science for medicine, as well as a recognized medical speciality. But all these changes do not mean that the entire framework of human genetics had to be reconstructed.

Zielgruppe

Research

Autoren/Hrsg.

Vogel, Friedrich

Motulsky, Arno G.

Inhaltsverzeichnis

1 History of Human Genetics.- 2 The Human Genome: Chromosomes.- 3 The Human Genome: Genes and DNA.- 4 Formal Genetics of Humans: Modes of Inheritance.- 5 Formal Genetics of Humans: Linkage Analysis and Gene Clusters.- 6 Formal Genetics of Humans: Multifactorial Inheritance and Common Diseases.- 7 Gene Action: Genetic Diseases.- 8 Gene Action: Developmental Genetics.- 9 Mutation: Spontaneous Mutation in Germ Cells.- 10 Mutation: Somatic Mutation, Cancer, and Aging.- 11 Mutation: Induction by Ionizing Radiation and Chemicals.- 12 Population Genetics: Description and Dynamics.- 13 Population Genetics: Consanguinity, Genetic Drift.- 14 Human Evolution.- 15 Behavioral Genetics: Research Strategies and Examples.- 16 Behavioral Genetics: Affective Disorders and Schizophrenia.- 17 Behavioral Genetics: Differences Between Populations.- 18 Genetic Counseling and Prenatal Diagnosis. Human Genome Project.- 19 Genetic Manipulations and the Biological Future of the Human Species.- Appendix 1 Methodsfor Estimating Gene Frequencies.- Appendix 2 Testing and Estimating Segregation Ratios; Correction of Ascertainment Biases in Rare Diseases; Multifactorial and Mixed Models; Related Statistical Problems.- Appendix 3 Data Bases and Expert Systems.- Appendix 4 Diagnosis of Zygosity.- Appendix 5 Heritability Estimates from Twin Data.- Appendix 6 Genetic Counseling.- Appendix 7 Linkage Calculations: Programs and Examples.- Appendix 8 Standardized Nomenclature for Human Genes.- Further Reading.