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ABC of Clinical Genetic .pdf



Original filename: ABC of Clinical Genetic.pdf
Title: ABC OF CLINICAL GENETICS
Author: Helen M Kingston

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40821 ABC of Clinical Genetics 8/11/01 11:01 AM Page 1

New information is included in this edition on:
• genetic services
• genetic assessment and counselling
• single gene disorders
• cancer genetics
• DNA technology and molecular analysis
• gene therapy
• the internet and human genetics

ABC OF CLINICAL GENETICS

This ever popular introduction to clinical genetics has been extensively
rewritten and enlarged to reflect the enormous advances that have been
made in recent years.

ABC
OF

CLINICAL GENETICS
Third edition

This is an ideal basic text on clinical genetics. It covers all the issues that
family doctors, obstetricians, paediatricians and other practitioners need
to know, and are likely to be asked by families, from the scientific basis of
inheritance to discussion of the specific disorders.

Related titles from BMJ Books
ABC of Antenatal Care
ABC of Labour Care
ABC of the First Year

THIRD EDITION

Using the winning ABC formula of concise explanation enhanced with
extensive illustrations and written by authoritative workers in the medical
genetics field, this is an invaluable reference that is relevant worldwide.

www.bmjbooks.com

Kingston

Visit our web site:
www.bmjbooks.com
Primary Care

Helen M Kingston

ABC OF
CLINICAL GENETICS,
THIRD EDITION

This Page Intentionally Left Blank

ABC OF
CLINICAL GENETICS
Third edition

Helen M Kingston
Consultant Clinical Geneticist, Regional Genetic Service,
St Mary’s Hospital, Manchester, UK

© BMJ Books 2002
BMJ Books is an imprint of the BMJ Publishing Group

All rights reserved. No part of this publication may be reproduced,
stored in a retrieval system, or transmitted, in any form or by any
means, electronic, mechanical, photocopying, recording and/or
otherwise, without the prior written permission of the publishers
First published 1989
Second impression (revised) 1990
Second edition 1994
Second impression (revised) 1997
Third impression 1999
Third edition 2002
by BMJ Books, BMA House, Tavistock Square,
London WC1H 9JR
www.bmjbooks.com
Cover image depicts a computer representation of
the beta DNA molecule. Produced with permission
from Prof K Seddon and Dr T Evans,
Queen’s University, Belfast/Science Photo Library.
British Library Cataloguing in Publication Data
A catalogue record for this book is available from the British Library
ISBN 0-7279-1627-0

Typeset by Newgen Imaging Systems (P) Ltd., Chennai, India
Printed in Malaysia by Times Offset

Contents
Contributors

vi

Preface

vii

1.

Clinical genetic services

1

2.

Genetic assessment

5

3.

Genetic counselling

8

4.

Chromosomal analysis

14

5.

Common chromosomal disorders

18

6.

Mendelian inheritance

25

7.

Unusual inheritance mechanisms

30

8.

Estimation of risk in mendelian disorders

35

9.

Detection of carriers

39

10.

Single gene disorders

45

11.

Genetics of cancer

56

12.

Genetics of common disorders

63

13.

Dysmorphology and teratogenesis

68

14.

Prenatal diagnosis

73

15.

DNA structure and gene expression

78

16.

Gene mapping and molecular pathology

82

17.

Techniques of DNA analysis

88

18.

Molecular analysis of mendelian disorders

94

19.

Treatment of genetic disorders

99

20.

The internet and human genetics

104

Websites

106

Glossary

108

Further reading list

112

Index

114

v

Contributors
David Gokhale
Scientist, Molecular Genetic Laboratory, Regional Genetic Service, St Mary’s Hospital, Manchester
Lauren Kerzin-Sturrar
Principal Genetic Associate, Regional Genetic Service, St Mary’s Hospital, Manchester
Tara Clancy
Senior Genetic Associate, Regional Genetic Service, St Mary’s Hospital, Manchester
Bronwyn Kerr
Consultant Clinical Geneticist, Regional Genetic Service, St Mary’s Hospital, Manchester

vi

Preface
Since the first edition of this book in 1989 there have been enormous changes in clinical genetics, reflecting the
knowledge generated from the tremendous advances in molecular biology, culminating in the publication of the first
draft of the human genome sequence in 2001, and the dissemination of information via the internet. The principles
of genetic assessment and the aims of genetic counselling have not changed, but the classification of genetic disease
and the practice of clinical genetics has been significantly altered by this new knowledge. To interpret all the
information now available it is necessary to understand the basic principles of inheritance and its chromosomal and
molecular basis. Recent advances in medical genetics have had a considerable impact on other specialties, providing a
new range of molecular diagnostic tests applicable to many branches of medicine, and more patients are presenting to
their general practitioners with concerns about a family history of disorders such as cancer. Increasingly, other
specialties are involved in the genetic aspects of the conditions they treat and need to provide information about
genetic risk, undertake genetic testing and provide appropriate counselling. All medical students, irrespective of their
eventual career choice therefore need to be familiar with genetic principles, both scientific and clinical, and to be aware
of the ethical implications of genetic technologies that enable manipulation of the human genome that may have
future application in areas such as gene therapy of human cloning. The aim of this third edition of the ABC is therefore
to provide an introduction to the various aspects of medical genetics for medical students, clinicians, nurses and allied
professionals who are not working within the field of genetics, to generate an interest in the subject and to guide
readers in the direction of further, more detailed information.
In producing this edition, the chapters on molecular genetics and its application to clinical practice have been
completely re-written, bringing the reader up to date with current molecular genetic techniques and tests as they are
applied to inherited disorders. An introduction to the internet in human genetics has also been included. There are
new chapters on genetic services, genetic assessment and genetic counselling together with a new chapter highlighting
the clinical and genetic aspects of some of the more common single gene disorders. Substantial alterations have been
made to most other chapters so that they reflect current practice and knowledge, although some sections of the
previous edition remain. A glossary of terms is included for readers who are not familiar with genetic terminology, a
further reading list is incorporated and a list of websites included to enable access to data that is changing on a daily
basis. As in previous editions, illustrations are a crucial component of the book, helping to present complex genetic
mechanisms in an easily understood manner, providing photographs of clinical disorders, tabulating genetic diseases
too numerous to be discussed individually in the text and showing the actual results of cytogenetic and molecular tests.
I am grateful to many colleagues who have helped me in producing this edition of the ABC. In particular, I am
indebted to Dr David Gokhale who has re-written chapters 17, 18 and 20, and has provided the majority of the
illustrations for chapters 16, 17 and 18. I am also grateful to Lauren Kerzin-Storrar and Tara Clancy for writing chapter
3 and to Dr Bronwyn Kerr for contributing to chapter 11. Numerous colleagues have provided illustrations and are
acknowledged throughout the book. In particular, I would like to thank Professor Dian Donnai, Dr Lorraine Gaunt and
Dr Sylvia Rimmer who have provided many illustrations for this as well as previous editions, and to Helena Elliott who
has prepared most of the cytogenetic pictures incorporated into this new edition. I am also very grateful to the families
who allowed me to publish the clinical photographs that are included in this book to aid syndrome recognition.
Helen M Kingston

vii

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