出版時(shí)間:2003-02-07 出版社:Wiley-Blackwell 作者:Dorian Pritchard,Bruce R. Korf 頁(yè)數(shù):115
內(nèi)容概要
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.
書籍目錄
Preface Acknowledgements Part Ⅰ Developmental biology 1 Basic biology 2 The cell 3 The chromosomes 4 DNAstructure 5 DNAreplication 6 RNAstructure 7 Production of messenger RNA 8 Protein synthesis 9 The cell cycle 10 Gametogenesis 11 Embryology 12 Sexual differentiation Part Ⅱ Medical genetics 13 The place of genetics in medicine 14 Chromosomal aneuploidies 15 Chromosome structural abnormalities 16 Mendel's laws 17 Autosomal dominant inheritance 18 Autosomalrecessiveinheritance 19 Intermediate inheritance 20 Sex-related inheritance 21 Congenital abnormalities 22 Multifactorial threshold traits 23 The common disorders of adult life 24 Twin studies 25 Normal polymorphism 26 Allele frequency 27 Genetic linkage and disease association 28 Gene mapping 29 Mutagenesis and DNA repair 30 Mutations 31 The molecular biology of cancer 32 Familial cancers 33 lmmunogenetics Part Ⅲ Clinical applications of genetics 34 Clinical applications of genetics: an overview 35 Pedigree drawing 36 Risk assessment 37 Dysmorphology 38 Chromosome analysis 39 Biochemical diagnosis 40 Reproductive genetic counselling 41 Prenatal sampling 42 Linkage analysis 43 DNA sequencing 44 Southern blotting 45 The polymerase chain reaction 46 DNAprofiling 47 Avoidance and prevention of disease 48 The management of genetic disease Glossary Appendix: Information resources Index
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