Základy lékařské genetiky – Pritchard Dorian J. (2021)

This Czech-language textbook is translated from the English original Medical Genetics at a Glance by Dorian Pritchard and Bruce Korf. It covers a broad range of subjects, from developmental biology and cytology through cytogenetics, general and molecular genetics, to specific applications of genetic knowledge in clinical practice. The opening sections explain fundamental biological concepts, including cell structure, chromosome organization, the basics of molecular biology, the cell cycle and the development of the human embryo. Further chapters examine the medical application of these principles, including the inheritance of genetically determined diseases, chromosomal aberrations, population genetics, genetic mapping, cancer genetics and immunogenetics. The concluding section focuses on clinical topics such as genealogical analysis, molecular genetic diagnostics, DNA analysis methods, genetic counselling and gene therapy, along with other aspects of modern medical genetics. The book also includes a comprehensive glossary of important terms and examples for independent practice. Illustrations, tables and diagrams complement every chapter. It is intended primarily for medical students preparing for examinations in medical biology or clinical genetics, but is also suitable for science students, secondary-school pupils preparing for university entrance examinations, doctors and secondary-school teachers seeking to broaden their knowledge of genetics and molecular biology.