Emery's elements of medical genetics

著者

書誌事項

Emery's elements of medical genetics

Robert F. Mueller, Ian D. Young ; foreword, Alan E.H. Emery ; illustrator, Anna Durbin

Churchill Livingstone, 1998

10th ed

  • : standard ed.
  • : international student ed.

タイトル別名

Elements of medical genetics

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注記

Includes bibliographical references and index

内容説明・目次

内容説明

This is an excellent textbook of medical genetics covering both the scientific basis and clinical practice of this fast moving area. Over the last two editions, this well established book has changed radically fin appearance and content, being transformed from a relatively dull small-format single colour book into a large format, two colour developed text book. For this new edition the page design has been retained but the content has been thoroughly updated. Features: * New to this edition: * Single Gene Disorder chapter includes Huntingdon's Disease, Myotonic Dystrophy, Marfan's Syndrome. Hereditary Motor Sensory Neuropathy and Spinal Muscular Atrophy. * Cancer Genetics chapter enlarged to include BRCA1, BRCA2 and mismatched repair genes in familiar cancer. * Update on progress in the Human Genome Project and developments in gene therapy. * Concept of Triplet Repeat/Unstable Mutations has been expanded. * Developmental Genetics chapter will include ret oncopgene, SOX genes, the FGFR genes and craniosynostosis.

目次

  • Section A Principles of human genetics: the history and impact of genetics in medicine
  • the cellular and molecular basis of inheritance
  • chromosomes
  • recombinant DNA technology
  • developmental genetics
  • patterns of inheritance
  • mathematical and population genetics
  • polygenic and multifactorial inheritance. Section B Genetics in medicine: haemoglobin and the haemoglobinopathies
  • biochemical genetics
  • pharmacogenetics
  • immunogenetics
  • the genetics of cancer
  • genetic factors in common diseases
  • genetics and congenital abnormalities. Section C Clinical genetics: genetic counselling
  • chromosome disorders
  • single gene disorders
  • carrier detection and presymptomatic diagnosis
  • risk calculation
  • prenatal diagnosis of genetic disease
  • population screening and community genetics
  • the human genome project, treatment of genetic disease and gene therapy
  • ethical considerations.

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