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.

Edward S. Tobias, Professor of Genetic Medicine, University of Glasgow, and Honorary Consultant in Medical Genetics, West of Scotland Regional Genetics Service, Institute of Medical Genetics, Glasgow. Medical Genetics undergraduate Teaching Lead, Clinical Director, MSc in Medical Genetics, and Fellow of the Higher Education Authority.
Dr Tobias won the Best College Teacher Award at Glasgow University in March 2013, as chosen by the Student Representative Council and the students themselves.
He also won the Teaching Excellence Award 2012 from the University's Principal and Senate Committee.
Glasgow University came top in the UK National Student Survey 2012 for Genetics teaching.

Michael Connor, Professor of Medical Genetics, University of Glasgow, and Director of the West of Scotland Regional Genetics Service, Institute of Medical Genetics, Yorkhill, Glasgow.

Malcolm Ferguson-Smith, Emeritus Professor of Pathology, University of Cambridge and formerly Director of the East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge.

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.

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.

Preface vii

Acknowledgements ix

How to get the best out of your textbook x

Part 1: Basic principles 1

1 Medical genetics in perspective 3

Scientific basis of medical genetics 5

Clinical applications of medical genetics 9

2 The human genome 13

Structure and organisation of the genome 14

Gene identification 14

The Human Genome Project 14

3 Nucleic acid structure and function 23

Nucleic acid structure 24

Nucleic acid function 26

Gene regulation 29

DNA replication 31

Mutation types, effects and nomenclature 32

4 DNA analysis 41

Basic methods 42

Mutation detection 43

Indirect mutant gene tracking 52

Analysis of DNA length polymorphisms 53

Analysis of single-nucleotide polymorphisms 54

5 Chromosomes 57

Chromosome structure 58

Chromosome analysis 59

Chromosome heteromorphisms 65

Chromosomes in other species 66

Mitochondrial chromosomes 68

Mitosis 69

6 Gametogenesis 73

Meiosis 74

Spermatogenesis 76

Oogenesis 78

Fertilisation 78

X-inactivation and dosage compensation 79

Sex chromosome aberrations 80

Sex determination and differentia…