Medical Genetics at a Glance

by Pritchard, Dorian J.; Korf, Bruce R.

• ISBN13: 9781405148467
• ISBN10: 1405148462
• Edition: 2nd
• Format: Paperback
• Copyright: 2007-12-04
• Publisher: Wiley-Blackwell

Summary

First Prize in the Medicine category at the British Medical Association Book Awards 2008The complex field of medical genetics is simplified in Medical Genetics at a Glance, with important scientific principles and clinical material broken into bite-sized chapters. This popular introduction and revision aid covers the core scientific principles relevant to an understanding of medical genetics and the clinical applications of this knowledge by discussing common genetic anomalies and their significance in clinical practice. This edition contains increased clinical relevance and features: Consideration of the latest practical and philosophical aspects of medical genetics Full-colour illustrations to increase visual appeal Self-assessment cases to make revision more rewarding and illustrate clinical applications of genetics A popular and well structured approach to the molecular diagnostic techniques of modern genetics An international author team based in the UK and USAMedical Genetics at a Glance is an ideal introduction or concise, highly visual revision aid to genetics for medical students in the early years of their course, and for other students of molecular biology, genetics and genetic counselling.

Author Biography

Dorian Pritchard, Senior Lecturer in Medical Genetics and Visiting Lecturer in Medical Genetics at the International Medical University, Kualur Lumpa (retired)

Bruce Korf, Professor and Chairman of the Department of Genetics, University of Alabama.

Table of Contents

Preface to the first edition

Preface to the second edition

Acknowledgements

List of abbreviations

Cellular, molecular and.developmental biology

Introduction and basic biology

The cell

The chromosomes

DNA structure

DNA replication

RNA structure

Production of messenger RNA

Protein synthesis

The cell cycle

Gametogenesis

Embryology

Body patterning

Sexual differentiation

Medical genetics

The place of genetics in medicine

Mendel's laws

Autosomal dominant inheritance, principles

Autosomal dominant inheritance, clinical examples

Autosomal recessive inheritance, principles

Autosomal recessive inheritance, clinical examples

Aspects of dominance

Genomic imprinting and dynamic mutation.22 X-linked inheritance

Sex-related disorders other than X-linked

Autosomal aneuploidies

Sex chromosome aneuploidies

Chromosome structural abnormalities

Chromosome structural abnormalities, clinical examples

Congenital abnormalities, pre-embryonic, embryonic and of.intrinsic causation

Congenital abnormalities arising at the fetal stage

Principles of multifactorial disease

Multifactorial disease in children

The common disorders of adult life

Twin studies

Normal polymorphism

Allele frequency

Genetic linkage

Gene mapping

Mutagenesis and DNA repair

Mutations

The molecular biology of cancer

Familial cancers

Immunogenetics

Genetic disorders of the immune system

Biochemical genetics: Part

Biochemical genetics

Clinical applications of genetics

Clinical applications of genetics: an overview

Pedigree drawing

Risk assessment

Dysmorphology

Chromosome analysis

Biochemical diagnosis

Reproductive genetic counselling

Prenatal sampling

Clinical application of linkage

DNA sequencing

Southern blotting

The polymerase chain reaction

DNA profiling

Management of genetic disease

Avoidance and prevention of disease

Ethical and social issues in clinical.genetics.Self-assessment case studies: questions.Self-assessment case studies: answers

Glossary

Appendix: information sources and resources

Index

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