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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 secti***, 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 ***ual 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 ***ities

　16 Mendel's laws

　17 Autosomal dominant inheritance

　18 Autosomalrecessiveinheritance

　19 Intermediate inheritance

　20 Sex-related inheritance

　21 Congenital ***ities

　22 Multifactorial threshold traits

　23 The common disorders of *** 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 Mutati***

　31 The molecular biology of cancer

　32 Familial cancers

　33 lmmunogenetics

Part Ⅲ Clinical applicati*** of genetics

　34 Clinical applicati*** of genetics: an overview

　35 Pedigree drawing

　36 Risk assessment

　37 Dysmorphology

　38 Chromosome ***ysis

　39 Biochemical diagnosis

　40 Reproductive genetic counselling

　41 Prenatal sampling

　42 Linkage ***ysis

　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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