.

0 (hodnocen0 x )

(2) Půjčeno:2x 

BK

6th ed.

Philadelphia : W. B. Saunders, c2001

xi,444 s.,[60] s.příl. : il.

ISBN 0-7216-6902-6 (brož.)

Obsahuje ilustrace, fotografie, bibliografické citace, předmluvu, glosář, rejstřík

Genetika lékařská - učebnice vysokošk.

000111159

Contents // Chapter 1 // Introduction...1 // The Role of Genetics in Medicine 1 // Classification of Genetic Disorders 2 // Onward 2 // Chapter 2 // Chromosomal Basis of Heredity...4 // The Human Chromosomes 5 // The Life Cycle of a Somatic Cell 5 // Meiosis 9 // Human Gametogenesis and Fertilization 12 // Medical Relevance of Mitosis // and Meiosis 15 // Chapter 3 // The Human Genome: Structure // and Function of Genes and // Chromosomes...17 // DNA Structure: A Brief Review 17 // The Central Dogma: // DNA - RNA -• Protein 18 // Fundamentals of Gene Expression 22 // Structure of Human Chromosomes 2 7 // Organization of the Human Genome 30 // Variation in Gene Expression and its // Relevance to Medicine 31 // Chapter 4 // Tools of Human Molecular Genetics . . .33 // Analysis of Individual DNA and // RNA Sequences 3 3 // Methods of Nucleic Acid Analysis 41 // The, Polymerase Chain Reaction 44 // In Situ Hybridization to Chromosomes 46 // DNA Sequence Analysis 48 // Methods of Protein Analysis 49 // Chapter 5 // Patterns of Single-Gene Inheritance 51 // Terminology 51 // Genetic Disorders with Classical // Mendelian Inheritance 5 3 // Autosomal Recessive Inheritance 56 // Patterns of Autosomal Dominant // Inheritance 61 // X-linked Inheritance 65 // Patterns of Pseudoautosomal Inheritance 71 // Atypical Patterns of Inheritance 7 2 // Summary 77 // Chapter 6 // Genetic Variation in Individuals: // Mutation and Polymorphism...79 // Mutation 7 9 // The Molecular Basis of Mutations

and // â–  Their Detection 81 // Human Genetic Diversity 87 // Inherited Variation and Polymorphism // in Proteins 87 // Inherited Variation and Polymorphism in // DNA 90 // Uses of Polymorphisms in // Medical Genetics 93 // Chapter 7 // Genetic Variation in Populations ...95 // Genetic Diversity in Human Populations 95 // Phenotypes, Genotypes, and Gene // Frequencies 96 // The Hardy-Weinberg Law 97 // Frequency of X-Linked Genes and // Genotypes 98 // Factors That Disturb Hardy-Weinberg // Equilibrium 99 // Conclusion 108 // Chapter 8 // Gene Mapping and the Human Genome // Project ...Ill // Physical Mapping of Human Genes 111 // Mapping Human Genes by Linkage // Analysis 118 // Applications of Human Gene Mapping 125 // The Human Genome Project 132 // x I THOMPSON & THOMPSON GENETICS IN MEDICINE // Chapter 9 // Principles of Clinical // Cytogenetics ...135 // Introduction to Cytogenetics 135 // Chromosome Abnormalities 140 // Parent-of-Origin Effects 151 // Studies of Chromosomes in // Human Meiosis 153 // Mendelian Disorders with // Cytogenetic Effects 153 // Cytogenetic Analysis in Cancer 154 // Chapter 10 // Clinical Cytogenetics: Disorders // of the Autosomes and the // Sex Chromosomes ...157 // Autosomal Disorders 157 // The Sex Chromosomes and // Their Abnormalities 165 // Clinical Case Studies Illustrating // Genetic Principles // Chapter 11 // Principles of Molecular Disease: // Lessons from the // Hemoglobinopathies...181 // The Effect of Mutation on // Protein

Function 181 // How Mutations Disrupt the // Formation of Biologically Normal // Proteins 183 // Hemoglobins and Their Diseases 184 // Genetic Disorders of Hemoglobin 187 // Conclusion 201 // Chapter 12 // The Molecular and Biochemical // Basis of Genetic Disease...203 // Diseases Due to Mutations in // Different Classes of Proteins 203 // Enzyme Defects 206 // Defects in Receptor Proteins 218 // Transport Defects 222 // Disorders of Structural // Proteins 225 // Neurodegenerative Disorders 234 // Pharmacogenetic Diseases 249 // Conclusion 253 // Chapter 13 // The Treatment of Genetic // Disease 255 // The Current State of Treatment of // Genetic Disease 255 // Special Considerations in // Treating Genetic Disease 257 // Treatment Strategies 258 // Chapter 14 // Genetics of the Immune System...277 // The Major Histocompatibility // Complex 277 « // Immunoglobulins 281 // The T-Cell Antigen Receptor 284 // Single-Gene Disorders of the // Immune System 285 // Chapter 15 // Genetics of Disorders with // Complex Inheritance ...289 // Genetic Analysis of Qualitative // Disease Traits 289 // Genetic Analysis of Quantitative // Traits 293 // Genetic Mapping of Complex Traits 297 // Diseases with Complex Inheritance 299 // Conclusion 309 // Chapter 16 // Genetics and Cancer ...311 // Cancer Biology 311 // Genetic Basis of Cancer 312 // Oncogenes 313 // Tumor-Suppressor Genes 320 // Tumor Progression by Clonal Evolution 330 // Cancer and the Environment 331 // Conclusion 332 // Chapter

17 // Genetic Aspects of Development ... .335 // (Witfi tfie assistance of Gregory S. Barsfi, MD, PhD.) // Introduction to Developmental // Biology 335 // Genes in Development 336 // Early Development: Fertilization // to Gastrulation 339 // " Gene Expression During Development 341 // Developmental Genetics in // Clinical Practice 350 // Recent Advances in Developmental // Genetics and Potential // Applications 355 // Chapter 18 // Prenatal Diagnosis ...359 // Indications for Prenatal Diagnosis 359 // Genetic Counseling for Prenatal // Diagnosis 360 // Methods of Prenatal Diagnosis 360 // Contents // li // erging Technologies for // Prenatal Diagnosis 368 // Laboratory Studies 369 // The Effect of Prenatal Diagnosis on the // Prevention and Management of // Genetic Disease 372 // Conclusion 372 // Chapter 19 // Genetic Counseling and Risk // Assessment ...375 // Genetic Counseling 375 // Case Management in Genetic Counseling 377 // Determining Recurrence Risks 379 // Conclusion 388 // Chapter 20 // Genetics and Society...391 // Population Screening for Genetic // Disease 391 // Ethical Issues in Medical Genetics 393 // Eugenic and Dysgenic Effects on // Gene Frequencies 396 // Conclusion 397 , // Glossary // Answers to Problems ...415 // Index...427