Essential medical genetics 6th Edition by Edward S Tobias, Michael Connor, Malcolm Ferguson Smith ISBN 978-1405169745 1405169745

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Product details: 

ISBN 10:  1405169745

ISBN 13:  978-1405169745

Author:  Edward S Tobias, Michael Connor, Malcolm Ferguson-Smith

Adopted at Cambridge University

Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders.

This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; ‘Essentials’ chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes.

Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book).

The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors’ website with regularly updated links to genetic databases and additional self-test questions.

This title is also available as a mobile App from MedHand Mobile Libraries. Buy it now from iTunes, Google Play or the MedHand Store.

Table of contents: 

Part 1: Basic principles

1. Medical genetics in perspective
    - Scientific basis of medical genetics
    - Clinical applications of medical genetics

2. The human genome
    - Structure and organisation of the genome
    - Gene identification
    - The Human Genome Project

3. Nucleic acid structure and function
    - Nucleic acid structure
    - Nucleic acid function
    - Gene regulation
    - DNA replication
    - Mutation types, effects and nomenclature

4. DNA analysis
    - Basic methods
    - Mutation detection
    - Indirect mutant gene tracking
    - Analysis of DNA length polymorphisms
    - Analysis of single-nucleotide polymorphisms

5. Chromosomes
    - Chromosome structure
    - Chromosome analysis
    - Chromosome heteromorphisms
    - Chromosomes in other species
    - Mitochondrial chromosomes
    - Mitosis

6. Gametogenesis
    - Meiosis
    - Spermatogenesis
    - Oogenesis
    - Fertilisation
    - X-inactivation and dosage compensation
    - Sex chromosome aberrations
    - Sex determination and differentiation
    - Genomic imprinting (parental imprinting)

7. Chromosome aberrations
    - Numerical aberrations
    - Structural aberrations
    - Cytogenetic and molecular methods for the detection of chromosomal aberrations
    - Identification of the chromosomal origin of complex structural rearrangements
    - Other aberrations

8. Typical Mendelian inheritance
    - Introduction to autosomal single-gene inheritance
    - Autosomal dominant inheritance
    - Autosomal recessive inheritance
    - Introduction to sex-linked inheritance
    - X-linked recessive inheritance
    - X-linked dominant inheritance
    - Y-linked inheritance (holandric inheritance)

9. Atypical Mendelian inheritance
    - Genetic anticipation
    - Pseudoautosomal inheritance
    - Autosomal dominant inheritance with sex limitation
    - Pseudodominant inheritance
    - X-linked dominant inheritance with male lethality
    - Mosaicism
    - Modifier genes and digenic inheritance
    - Uniparental disomy
    - Imprinting disorders

10. Non-Mendelian inheritance
     - Multifactorial disorders
     - Somatic cell genetic disorders
     - Mitochondrial disorders

11. Medical genetics in populations
     - Selection for single-gene disorders
     - Founder effect and genetic drift for single-gene disorders
     - Altered mutation rate for single-gene disorders
     - Linkage analysis and the International Hapmap Project
     - Human population evolution and migration

Part 2: Clinical applications
12. Genetic assessment, genetic counselling and reproductive options
 - Communication of advice
 - Special points in counselling
 - Prenatal diagnosis
 - Amniocentesis
 - Chorionic villus sampling
 - Cordocentesis, fetal skin biopsy and fetal liver biopsy
 - Ultrasonography
 - Fetal cells in the maternal circulation
 - Free fetal DNA and RNA detection
 - Preimplantation genetic diagnosis

13. Family history of cancer
     - General principles
     - Tumour suppressor genes
     - Genes involved in DNA repair mechanisms
     - Oncogenes
     - Other cancer-related genes
     - Genetic counselling aspects of cancer
     - Common familial cancer predisposition syndromes

14. Family history of common adult-onset disorder
     - General principles
     - Diabetes mellitus: common and monogenic forms
     - Dementia: Alzheimer disease, Huntington disease, prion diseases and other causes

15. Strong family history – typical Mendelian disease
     - Cystic fibrosis
     - Duchenne and Becker muscular dystrophies
     - Neurofibromatosis type 1

16. Strong family history – other inheritance mechanisms
     - Myotonic dystrophy
     - Fragile X syndrome
     - Mitochondrial disorder
     - Imprinting-related disorder
     - Chromosomal translocation

17. Screening for disease and for carriers
     - Prenatal screening
     - Neonatal screening
     - Carrier detection in the adult population
     - Presymptomatic screening of adults

18. Family history of one or more congenital malformations
     - Aetiology
     - Chromosomal disorders
     - Neural tube defects
     - Teratogenic effects
     - Multiple malformation syndromes

Part 3: Electronic databases – a user’s guide
19. Electronic databases – a user’s guide
 - Finding information regarding specific conditions and names of associated genes
 - Laboratories undertaking genetic testing
 - Patient information and support groups
 - Gene- and protein-specific sequence, structure, function and expression information
 - Nucleotide sequences and human mutations
 - Automatic primer design tools
 - Displaying map data for genes and markers
 - Online missense mutation analysis tools
 - Computer-aided syndrome diagnosis
 - Professional genetics societies
 - The Human Genome Project: ethics and education
 - Self-assessment – answers

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