遺傳學(xué)一覽 Medical Genetics at a Glance

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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