Medical genetics. National leadership. Ed. Ginter E.K., Puzyreva V.P.

This publication was prepared by a team of authors, the vast majority of which are well known not only to the domestic, but also to the foreign reader. The book presents the main sections of human genetics and medical genetics, such as human development genetics, epigenetics, genetics of somatic cells, population genetics, pharmacogenetics, immunogenetics and system of HLA genes.

also describes modern ideas about the main classes of hereditary diseases : monogenic, including population genetics of monogenic diseases, hereditary metabolic diseases, mitochondrial diseases, pathologies due to the expansion of the tandem trinucleotide repetitions, chromosomal diseases, including those caused by microchromosomal restructures, diseases associated with genomic imprinting, multifactorial diseases, indroeds Development malformations and teratogenic syndromes.

A separate part of the leadership is devoted to the treatment and prevention of hereditary diseases, as well as the ethical problems of medical genetics. It examines the problem of gene therapy in detail, including using the methods of editing genome, which many researchers are considered as the most promising human diseases in the genotherapy.

The book will be useful to doctors of almost all specialties, taking into account the ever -increasing contribution of genetics in Modern medicine, without which its further improvement is impossible.