Medical Genetics at a Glance

Author: Pritchard, Dorian J.


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  • ISBN: 9780632063727
  • Author: Pritchard, Dorian J.
  • Publ Date: 2002-12-12
  • Edition:
  • Pages: 116
  • Imprint: BLACKWELL *#
  • Status: O/P
  • ID - 69870

Table of Contents :

Section I: developmental biology; basic cell biology; the cell; the chromosomes; DNA structure; DNA replication; RNA structure; production of the messenger RNA; protein synthesis; the cell cycle; gametogenesis; embryology; sexual differentation. Section II: medical genetics; the place of genetics in medicine; chromosomal aneuploidies; chromosomal structural anormalities; Mendel's law; autosomal dominant inheritance; autosomal recessive inheritance; intermediate inheritance; sex related inheritance; congenital abnormalities; multifactorial threshold traits; common disorders of adult life; normal polymorphism; allele frequency; genetic linkage and disease association; mutagenesis & DNA repair; mutations; the molecular biology of cancer; familial cancers; immunogenetics. Section III: clinical genetics; overview of clinical and laboratory methods; pedigree construction; dymorphology and dermatoglyphics; twin studies; chromosome analysis & related diagnostic procedures; gene mapping; diagnostic applications of the human gene map; prenatal sampling; biochemical diagnosis; DNA sequencing & related diagnostic procedures; southern blotting & related diagnostic procedures; PCR amplificiation and related diagnostic procedures; DNA profiling; risk assessment & genetic counselling; preventative genetics and gene therapy.


"Medical Genetics at a Glance" is a concise, well-illustrated and accessible genetics textbook. It follows the now familiar, easy-to-use, double page spread format of the "At a Glance" series. Each double page presents clear, memorable diagrams that illustrate essential information with accompanying text that covers key topics and issues in more detail. Structured into three distinct sections, "Medical Genetics at a Glance" takes the student through developmental biology, medical genetics and the clinical application of genetics. The first section focuses on basic biological concepts such as cell and chromosome structure, molecular biology and the cell cycle, as well as human embryonic development and sexual maturation. The second section applies these principles to medicine through the essential 'laws' of inheritance, the chromosome anomalies, multifactorial inheritance, normal polymorphism and gene frequency, then moving on to gene mapping, mutagenesis, cancer and immunogenetics. The final section addresses the clinical application of the above principles in pedigree drawing and molecular diagnostic procedures based on the human gene map, PCR and Southern techniques, risk assessment, genetic counselling, gene therapy and much more. "Medical Genetics at a Glance" is an ideal resource that fits the budget and reading time of medical students and those seeking a quick, thorough introduction to this fast moving field. It can be used as primary or supplementary reading in a lecture-based course and is perfect for exam preparation.


Pre-publication reviews'Here is a contemporary account of genetic science and its many applications that I have not found elsewhere... Students of all ages complain to me that there is no accessible text that brings together all of this information in a concise form. Well their wait is over!'"Specialist Registrar in Clinical Genetics, Nottingham"'My congratulations to the authors!'"PRHO, Aldershot"Post-Publication ReviewsNEW REVIEW -- PRITCHARD / Medical Genetics at a Glance. Blackwell Publishing, 2003, $24.95. [AUTHOR]Pritchard, Dorian J., BSc, DIp Gen, PhD; Korf, Bruce R., MD, PhD[BIBLIOGRAPHIC DATA]ISBN: 0-632-06372-6, Series Title: At a Glance, 115 pages, soft cover. [DOODY'S NOTES][REVIEWER'S EXPERT OPINION]Ian Glass, MD, FRCP, FRACP, FACMG(University of Washington School of Medicine)**Description**This is an entirely new and very succinct general book summarizing genetics and its medical applications. **Purpose**It is primarily directed to medical students, whose time is limited, with the aim of providing a large volume of information in a study-friendly and exam-preparatory manner. This goal is beautifully achieved in an incredibly concise 100 pages of text and figures, based around three integrated sections describing, in turn, developmental biology, medical genetics, and clinical applications of genetics. The flow is deliberate. This book more than reaches its goals of providing a quick and efficient review of the subject because it is so invitingly concise and therefore intensely readable. **Audience**Although it might be considered redundant in a crowded marketplace for medical students, this book is extremely appealing and accessible and, indeed, other student groups may also avail themselves of it. **Features**The detail is greater than would be suggested from the page count alone. This is attained lar

Author Biography:

Uses a structured approach in the molecular diagnostic techniques of modern clinical genetics.


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