Genetics, revised edition. Karen Vipond

      ISBN: 978 1 908625 15 1

      Revised edition published in 2013 by Lantern Publishing Limited

      First edition (ISBN 978 1 906052 24 9) published in 2011 by Reflect Press Limited

      Lantern Publishing Limited, The Old Hayloft, Vantage Business Park, Bloxham Rd, Banbury, OX16 9UX, UK

       www.lanternpublishing.com

      © 2013, Karen Vipond

      The right of Karen Vipond to be identified as author of this work has been asserted by her in accordance with the Copyright, Designs and Patents Act 1988.

      All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, copied or transmitted in any form or by any means, electronic, mechanical, photocopying, recording or otherwise without either written permission from Lantern Publishing Ltd or by a licence permitting restricted copying in the UK issued by the Copyright Licensing Agency, Saffron House, 6–10 Kirby Street, London EC1N 8TS, UK.

       www.cla.co.uk

       British Library Cataloguing in Publication Data

      A catalogue record for this book is available from the British Library

      The authors and publisher have made every attempt to ensure the content of this book is up to date and accurate. However, healthcare knowledge and information is changing all the time so the reader is advised to double-check any information in this text on drug usage, treatment procedures, the use of equipment, etc. to confirm that it complies with the latest safety recommendations, standards of practice and legislation, as well as local Trust policies and procedures. Students are advised to check with their tutor and/or mentor before carrying out any of the procedures in this textbook.

      Typeset by Medlar Publishing Solutions, India

      Cover design by Andrew Magee Design Ltd

      Printed and bound by MPG Books Ltd, Bodmin, UK

      Distributed by NBN International, 10 Thornbury Rd, Plymouth PL6 7PP, UK

      CONTENTS

Foreword

Introduction

1 Basic Cell Biology

2 Inheritance

3 Autosomal Recessive and Dominant Inheritance

       4 Sex-linked Inheritance

       5 Two or More Genes

       6 Mutations

       7 Pedigree Analysis

       8 Clinical Applications

       9 Cancer Genetics

       10 Genetic Counselling

       Answers to the Activities

       Glossary

       Index

FOREWORD

      For many, both public and health professionals, the world of genetics is surrounded by science, white coats and laboratories. For some it is associated with genetic modification, Mutant Ninja Turtles and ‘designer’ babies. Most books about genetics are written by experts, for experts and these can be a difficult read for anyone not an expert. What a delight it is therefore to read a book which takes complex scientific concepts and ensures they are understandable by all.

      This book takes a step by step journey from genetic science to health via rare single gene conditions and conditions with both a genetic and environmental influence.

      As a nurse and a nursing lecturer for many years, genetics did not seem to be a subject I needed to know anything about. We now know that a person’s individual genetic make-up and the genetics of their disease can have implications for diagnosis, outcomes and treatment decisions. It is on this basis that genetics and genomics now need to be considered a core subject for all nurses and health care students.

      I am pleased to recommend this book to students of nursing and health care. I feel the book also has merit for many practitioners who, like me, did not have the topic of genetics included in their training, and it will be a very useful book for health care educators in planning the content of future courses.

      I congratulate Karen on producing a book that makes sense of the science of genetics and genomics and I hope you enjoy learning more about this exciting subject which is having such an impact on health care.

       Candy Cooley, Genetics Awareness Programme Lead, NHS National Genetics Education Centre

      January 2013

INTRODUCTION

      BACKGROUND

      Following the publication of the government’s White Paper ‘Our Inheritance, Our Future’ in 2003, the NHS Genetics Education and Development Centre was created. The Centre’s work has included the publication of genetic workforce competencies that apply to all non-genetic health care professionals. Genetic education now forms an essential part of pre-registration nursing and midwifery courses so that all students can demonstrate competency in genetic practice at the point of registration.

      This book has developed from