Essential Medical Genetics

Front Cover
John Wiley & Sons, Nov 15, 2011 - Medical - 344 pages
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.

 

Selected pages

Contents

Scientific basis of medical genetics
3
Structure and organisation of the genome
13
Nucleic acid structure and function
23
Gene regulation
29
DNA analysis
41
Chromosomes
57
Gametogenesis
73
Genomic imprinting parental imprinting 7 Chromosome aberrations
89
Genes involved in DNA repair mechanisms
187
Other cancerrelated genes
189
43
194
Alzheimer disease Huntington disease prion diseases and other causes
202
52
205
Strong family history other inheritance mechanisms
219
54
221
Neonatal screening
233

Structural aberrations
92
23
106
Identification of the chromosomal origin of complex structural rearrangements
107
31
112
Autosomal recessive inheritance
120
Pseudoautosomal inheritance
134
41
143
Somatic cell genetic disorders
147
Clinical applications
161
Chorionic villus sampling
174
53
238
Neural tube defects
247
Electronic databases a users guide
265
Nucleotide sequences and human mutations
281
Professional genetics societies
297
Odds probabilities and applications of Bayes theorem
312
Population genetics of singlegene disorders
315
Index
324
57
325
Copyright

Other editions - View all

Essential Medical Genetics, Includes Desktop Edition
Edward S. Tobias,Michael Connor,Malcolm Ferguson-Smith
Limited preview - 2011

Common terms and phrases

affected individuals alleles amino acid amniocentesis Angelman Angelman syndrome associated autosomal dominant autosomal recessive BRCA1 BRCA2 breast cancer carrier cause cell centromere Chapter clicking clinical common congenital database deletion detection diabetes disease disorders DNA analysis DNA sequencing encoded exon family history female fetal fluorescent fragile X syndrome frequency Further reading gametes gene GeneReviews genetic counselling genotype heterozygote homologous Human Genome identified inactivation increased inheritance karyotype learning disability locus male malformations markers maternal meiosis meiotic Mendelian microdeletion microsatellite mitochondrial mosaicism mRNA multifactorial multiple mutant alleles neonatal normal nucleotide offspring OMIM pair parents patients pedigree phenotype polymorphisms population Prader-Willi syndrome pregnancy prenatal diagnosis primer probe protein recessive trait recombination recurrence risk region relatives repeat result Robertsonian translocation screening single single-gene SNPs somatic specific Table testing tion transcription trimester tumour twins UCSC ultrasound uniparental uniparental disomy usually variants X chromosome X-linked

About the author (2011)

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

Bibliographic information

TitleEssential Medical Genetics
AuthorsEdward S. Tobias, Michael Connor, Malcolm Ferguson-Smith
Edition6
PublisherJohn Wiley & Sons, 2011
ISBN1118293703, 9781118293706
Length344 pages
Subjects › 

Medical / General
Medical / Internal Medicine
  
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