遗传学一览 Medical Genetics at a Glance

2003-02-07  

Wiley-Blackwell  

Dorian Pritchard,Bruce R. Korf  

115  

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.

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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