Medical Genetics at a Glance

by Dorian J. Pritchard; Bruce R. Korf (Partners Center for Human Genetics & Harvard Medical School, Boston, MA)

• ISBN13: 9780632063727
• ISBN10: 0632063726
• Format: Paperback
• Copyright: 2002-12-01
• Publisher: Wiley-Blackwell

Summary

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.

Table of Contents

Preface	6	(1)
Acknowledgements	7	(1)
Part I Developmental biology
Basic biology	8	(2)
The cell	10	(2)
The chromosomes	12	(2)
DNA structure	14	(2)
DNA replication	16	(2)
RNA structure	18	(2)
Production of messenger RNA	20	(2)
Protein synthesis	22	(2)
The cell cycle	24	(2)
Gametogenesis	26	(2)
Embryology	28	(2)
Sexual differentiation	30	(2)
Part II Medical genetics
The place of genetics in medicine	32	(2)
Chromosomal aneuploidies	34	(2)
Chromosome structural abnormalities	36	(2)
Mendel's laws	38	(2)
Autosomal dominant inheritance	40	(2)
Autosomal recessive inheritance	42	(2)
Intermediate inheritance	44	(2)
Sex-related inheritance	46	(2)
Congenital abnormalities	48	(2)
Multifactorial threshold traits	50	(2)
The common disorders of adult life	52	(2)
Twin studies	54	(2)
Normal polymorphism	56	(2)
Allele frequency	58	(2)
Genetic linkage and disease association	60	(2)
Gene mapping	62	(2)
Mutagenesis and DNA repair	64	(2)
Mutations	66	(2)
The molecular biology of cancer	68	(2)
Familial cancers	70	(2)
Immunogenetics	72	(2)
Part III Clinical applications of genetics
Clinical applications of genetics: an overview	74	(2)
Pedigree drawing	76	(2)
Risk assessment	78	(2)
Dysmorphology	80	(2)
Chromosome analysis	82	(2)
Biochemical diagnosis	84	(2)
Reproductive genetic counselling	86	(2)
Prenatal sampling	88	(2)
Linkage analysis	90	(2)
DNA sequencing	92	(2)
Southern blotting	94	(2)
The polymerase chain reaction	96	(2)
DNA profiling	98	(2)
Avoidance and prevention of disease	100	(2)
The management of genetic disease	102	(2)
Glossary	104	(3)
Appendix: Information resources	107	(2)
Index	109