Emery's elements of medical genetics and genomics:
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
[London]
Elsevier
[2022]
|
| Edition: | Edition: 16 |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis Klappentext |
| Physical Description: | x, 435 Seiten Illustrationen, Diagramme |
| ISBN: | 9780702079665 |
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| adam_text | Preface viii Identifying the Genetic Etiology of Monogenic Disorders by Next-Generation Sequencing 48 Acknowledgments ix Dedication x 1 5 The History and Impact of Genetics in Medicine 1 Polymerase Chain Reaction 51 Application of DNA Sequence Polymorphisms 52 Nucleic Acid Hybridization Techniques 54 Mutation Detection 55 Sequencing-Based Methods 57 Dosage Analysis 61 Genome Sequencing as a Clinical Diagnostic Test 63 Gregor Mendel and the Laws of Inheritance 1 DNA as the Basis of Inheritance 3 The Fruit Fly 4 The Origins of Medical Genetics 4 Major New Developments 7 The Societal Impact of Advances in Genetics 7 6 The Cellular and Molecular Basis of Inheritance 10 The Cell 10 DNA: The Flereditary Material 10 Chromosome Structure 12 Types of DNA Sequence 12 Transcription 15 Translation 15 The Genetic Code 16 Regulation of Gene Expression 16 RNA-Directed DNA Synthesis 19 Mutations 19 Mutations and Mutagenesis 23 3 4 7 Finding the Cause of Monogenic Disorders by Identifying Disease Genes 44 Position-Independent Identification of Human Disease Genes 44 Positional Cloning 45 The Human Genome Project 47 Population and Mathematical Genetics 84 Allele Frequencies in Populations 84 Genetic Polymorphism 89 Segregation Analysis 90 Genetic Linkage 90 Medical and Societal Intervention 94 8 Risk Calculation 96 Probability Theory 96 Autosomal Dominant Inheritance 97 Autosomal Recessive Inheritance 99 X-Linked Recessive Inheritance 100 The Use of Linked Markers 101 Bayes Theorem and Prenatal Screening 102 Empiric Risks 102 Chromosomes and Cell Division 26 Human Chromosomes 26 Methods of
Chromosome Analysis 27 Molecular Cytogenetics 29 Chromosome Nomenclature 29 Cell Division 31 Gametogenesis 34 Chromosome Abnormalities 34 Patterns of Inheritance 67 Family Studies 67 Mendelian Inheritance 67 Multiple Alleles and Complex Traits 76 Anticipation 76 Mosaicism 77 Uniparental Disomy 77 Genomic Imprinting 78 Mitochondrial Inheritance 81 Section A: The Scientific Basis of Human Genetics 2 Laboratory Techniques for Diagnosis of Monogenic Disorders 51 9 Developmental Genetics 105 Fertilization and Gastrulation 105 Developmental Gene Families 106 The Pharyngeal Arches 118 The Role of Cilia in Developmental Abnormalities 119 The Limb as a Developmental Model 119 Developmental Genes and Cancer 121 Positional Effects and Developmental Genes 122 v
VI Contents Tumor Suppressor Genes 189 Epigenetics and Cancer 192 Genetics of Common Cancers 194 DNA Tumor Profiling, Mutational Signatures, and Tumor Mutational Burden 195 Inherited Cancer Syndromes 197 Genetic Counseling in Familial Cancer 202 Screening for Familial Cancer 203 What Treatment Is Appropriate? 208 Hydatidiform Moles 122 Epigenetics and Development 123 Sex Determination and Disorders of Sex Development 127 Twinning 131 Section В: Genetics in Medicine and Genomic Medicine 10 Common Disease, Polygenic, and Multifactorial Genetics 136 15 Pharmacogenomics, Precision Medicine, Treatment of Genetic Disease 210 Screening for Genetic Disease 151 Screening Those at High Risk 151 Carrier Testing for Autosomal Recessive and X-Linked Disorders 151 Presymptomatic Diagnosis of Autosomal Dominant Disorders 153 Ethical Considerations in Carrier Detection and Predictive Testing 154 Population Screening 154 Criteria for a Screening Program 155 Prenatal and Postnatal Screening 156 Population Carrier Screening 158 Genetic Registers 159 12 Hemoglobin and the Hemoglobinopathies 161 Section C: Clinical Genetics, Counsels! Ethics 16 Congenital Abnormalities, Dysmorphic Syndromes, and Intellectual Disability 22 ՛ 17 Chromosome Disorders 250 Incidence of Chromosome Abnormalities 250 Disorders of the Sex Chromosomes 254 Classic Chromosome Deletion Syndromes 258 Chromosome Microarray/Microarray-Comparative Genomic Hybridization 259 Chromosome Disorders and Behavioral Phenotypes 265 Chromosome Breakage Syndromes 265 Indications for Chromosome Microarray Analysis 268 Immunogenetics 171
Immunity 171 Innate Immunity 171 Specific Acquired Immunity 174 Inherited Immunodeficiency Disorders 178 Blood Groups 181 14 id Incidence 227 Definition and Classification of Birth Defects 21 Genetic Causes of Malformations 232 Environmental Agents (Teratogens) 237 Malformations of Unknown Cause 240 Counseling 241 Intellectual Disability 241 Structure of Hemoglobin 161 Developmental Expression of Hemoglobin 162 Globin Chain Structure 162 Synthesis and Control of Hemoglobin Expression 163 Disorders of Hemoglobin 163 Clinical Variation of the Hemoglobinopathies 169 Antenatal and Newborn Hemoglobinopathy Screening 169 13 the Pharmacogenomics 210 Drug Metabolism 210 Genetic Variations Revealed by the Effects of Drugs 211 Precision Medicine 213 Treatment of Genetic Disease 215 Therapeutic Applications of Recombinant DN : Technology 218 Gene Therapy 218 RNA Modification 221 Targeted Gene Correction 222 Stem Cell Therapy 222 Types and Mechanisms of Genetic Susceptibility 136 Approaches to Demonstrating Genetic Susceptibility to Common Diseases 137 Polygenic Inheritance and the Normal Distribution 138 Multifactorial Inheritance—the Liability/Threshold Model 139 Identifying Genes That Cause Multifactorial Disorders 140 Polygenic Risk Scores 144 Disease Models for Multifactorial Inheritance 144 11 ä;kí The Genetics of Cancer.. .and Cancer Genetics 184 Differentiation Between Genetic and Environmental Factors in Cancer 184 Oncogenes 186 18 Inborn Errors of Metabolism 271 Disorders of Amino Acid and Peptide Metabolism 271 Disorders of Carbohydrate Metabolism 276 Disorders of Steroid
Metabolism 277 Disorders of Lipid and Lipoprotein Metabolism 277 Lysosomal Storage Disorders 278 Disorders in the Metabolism of Purines, Pyrimidines, and Nucleotides 282 Disorders of Porphyrin and Heme Metabolism 282 Disorders in the Metabolism of Trace Elements and Metals 283
Contents Peroxisomal Disorders 284 Disorders of Fatty Acid and Ketone Body Metabolism 285 Disorders of Energy Metabolism 286 Prenatal Diagnosis of Inborn Errors of Metabolism 287 19 Mainstream Monogenic Disorders 289 Neurological Disorders 289 CADASIL and Early-Onset Dementia 290 Inherited Peripheral Neuropathies 292 Motor Neurone Disease 295 Neurocutaneous Disorders 295 Muscular Dystrophies 299 Respiratory Disorders 303 Inherited Cardiac Conditions 306 Connective Tissue Disorders 308 Renal Disorders 312 Blood Disorders 316 21 Genetic Counseling 338 Definition 338 Establishing the Diagnosis 338 Calculating and Presenting the Risk 339 Discussing the Options 340 Communication and Support 340 Genetic Counseling—Directive or Non-directive? 340 Outcomes in Genetic Counseling 341 Special Issues in Genetic Counseling 341 22 Ethical and Legal Issues in Medical Genetics 345 General Principles 345 Ethical Dilemmas in the Genetics Clinic 347 Ethical Dilemmas and the Public Interest 350 Glossary 355 Appendix: Websites and Clinical Databases 372 Multiple-Choice Questions 374 20 Prenatal Testing and Reproductive Genetics 322 Techniques Used in Prenatal Diagnosis 322 Antenatal and Prenatal Screening 324 Indications for Prenatal Testing 329 Special Problems in Prenatal Diagnosis 331 Termination of Pregnancy 332 Preimplantation Genetic Diagnosis 332 Assisted Conception and Implications for Genetic Disease 333 Prenatal Treatment 336 Case-Based Questions 382 Multiple-Choice Answers 387 Case-Based Answers and Discussion 396 Clinical Scenario Answers and Discussion 403 Index 412
ELEMENTS OF MEDICAL GENETICS AND GENOMICS PETER D.TURNPENNY, BSc, MB, СҺВ, FRCP, FRCPCH. FRCPath. FHEA SIAN ELLARD. OBE, BSc, PhD, FRCPath RUTH CLEAVER, BSc, MB. СҺВ, PGCert, MRCP Comprehensive coverage of genetics and genomics from medical school to clinical practice. Long recognized as a leading textbook in this fast-moving field, Emery s Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. • Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. • Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. • Divided into three easy-to-use sections: The Scientific Basis of Human Genetics; Genetics in Medicine and Genomic Medicine; and Clinical Genetics, Counseling, and Ethics. • Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. • Contains learning features such as summary boxes, an
extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. • Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny, Sian Ellard, and new editor Ruth Cleaver. • Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
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| adam_txt |
Preface viii Identifying the Genetic Etiology of Monogenic Disorders by Next-Generation Sequencing 48 Acknowledgments ix Dedication x 1 5 The History and Impact of Genetics in Medicine 1 Polymerase Chain Reaction 51 Application of DNA Sequence Polymorphisms 52 Nucleic Acid Hybridization Techniques 54 Mutation Detection 55 Sequencing-Based Methods 57 Dosage Analysis 61 Genome Sequencing as a Clinical Diagnostic Test 63 Gregor Mendel and the Laws of Inheritance 1 DNA as the Basis of Inheritance 3 The Fruit Fly 4 The Origins of Medical Genetics 4 Major New Developments 7 The Societal Impact of Advances in Genetics 7 6 The Cellular and Molecular Basis of Inheritance 10 The Cell 10 DNA: The Flereditary Material 10 Chromosome Structure 12 Types of DNA Sequence 12 Transcription 15 Translation 15 The Genetic Code 16 Regulation of Gene Expression 16 RNA-Directed DNA Synthesis 19 Mutations 19 Mutations and Mutagenesis 23 3 4 7 Finding the Cause of Monogenic Disorders by Identifying Disease Genes 44 Position-Independent Identification of Human Disease Genes 44 Positional Cloning 45 The Human Genome Project 47 Population and Mathematical Genetics 84 Allele Frequencies in Populations 84 Genetic Polymorphism 89 Segregation Analysis 90 Genetic Linkage 90 Medical and Societal Intervention 94 8 Risk Calculation 96 Probability Theory 96 Autosomal Dominant Inheritance 97 Autosomal Recessive Inheritance 99 X-Linked Recessive Inheritance 100 The Use of Linked Markers 101 Bayes'Theorem and Prenatal Screening 102 Empiric Risks 102 Chromosomes and Cell Division 26 Human Chromosomes 26 Methods of
Chromosome Analysis 27 Molecular Cytogenetics 29 Chromosome Nomenclature 29 Cell Division 31 Gametogenesis 34 Chromosome Abnormalities 34 Patterns of Inheritance 67 Family Studies 67 Mendelian Inheritance 67 Multiple Alleles and Complex Traits 76 Anticipation 76 Mosaicism 77 Uniparental Disomy 77 Genomic Imprinting 78 Mitochondrial Inheritance 81 Section A: The Scientific Basis of Human Genetics 2 Laboratory Techniques for Diagnosis of Monogenic Disorders 51 9 Developmental Genetics 105 Fertilization and Gastrulation 105 Developmental Gene Families 106 The Pharyngeal Arches 118 The Role of Cilia in Developmental Abnormalities 119 The Limb as a Developmental Model 119 Developmental Genes and Cancer 121 Positional Effects and Developmental Genes 122 v
VI Contents Tumor Suppressor Genes 189 Epigenetics and Cancer 192 Genetics of Common Cancers 194 DNA Tumor Profiling, Mutational Signatures, and Tumor Mutational Burden 195 Inherited Cancer Syndromes 197 Genetic Counseling in Familial Cancer 202 Screening for Familial Cancer 203 What Treatment Is Appropriate? 208 Hydatidiform Moles 122 Epigenetics and Development 123 Sex Determination and Disorders of Sex Development 127 Twinning 131 Section В: Genetics in Medicine and Genomic Medicine 10 Common Disease, Polygenic, and Multifactorial Genetics 136 15 Pharmacogenomics, Precision Medicine, Treatment of Genetic Disease 210 Screening for Genetic Disease 151 Screening Those at High Risk 151 Carrier Testing for Autosomal Recessive and X-Linked Disorders 151 Presymptomatic Diagnosis of Autosomal Dominant Disorders 153 Ethical Considerations in Carrier Detection and Predictive Testing 154 Population Screening 154 Criteria for a Screening Program 155 Prenatal and Postnatal Screening 156 Population Carrier Screening 158 Genetic Registers 159 12 Hemoglobin and the Hemoglobinopathies 161 Section C: Clinical Genetics, Counsels! Ethics 16 Congenital Abnormalities, Dysmorphic Syndromes, and Intellectual Disability 22"՛ 17 Chromosome Disorders 250 Incidence of Chromosome Abnormalities 250 Disorders of the Sex Chromosomes 254 "Classic" Chromosome Deletion Syndromes 258 Chromosome Microarray/Microarray-Comparative Genomic Hybridization 259 Chromosome Disorders and Behavioral Phenotypes 265 Chromosome Breakage Syndromes 265 Indications for Chromosome Microarray Analysis 268 Immunogenetics 171
Immunity 171 Innate Immunity 171 Specific Acquired Immunity 174 Inherited Immunodeficiency Disorders 178 Blood Groups 181 14 id Incidence 227 Definition and Classification of Birth Defects 21 Genetic Causes of Malformations 232 Environmental Agents (Teratogens) 237 Malformations of Unknown Cause 240 Counseling 241 Intellectual Disability 241 Structure of Hemoglobin 161 Developmental Expression of Hemoglobin 162 Globin Chain Structure 162 Synthesis and Control of Hemoglobin Expression 163 Disorders of Hemoglobin 163 Clinical Variation of the Hemoglobinopathies 169 Antenatal and Newborn Hemoglobinopathy Screening 169 13 the Pharmacogenomics 210 Drug Metabolism 210 Genetic Variations Revealed by the Effects of Drugs 211 Precision Medicine 213 Treatment of Genetic Disease 215 Therapeutic Applications of Recombinant DN : Technology 218 Gene Therapy 218 RNA Modification 221 Targeted Gene Correction 222 Stem Cell Therapy 222 Types and Mechanisms of Genetic Susceptibility 136 Approaches to Demonstrating Genetic Susceptibility to Common Diseases 137 Polygenic Inheritance and the Normal Distribution 138 Multifactorial Inheritance—the Liability/Threshold Model 139 Identifying Genes That Cause Multifactorial Disorders 140 Polygenic Risk Scores 144 Disease Models for Multifactorial Inheritance 144 11 ä;kí The Genetics of Cancer. .and Cancer Genetics 184 Differentiation Between Genetic and Environmental Factors in Cancer 184 Oncogenes 186 18 Inborn Errors of Metabolism 271 Disorders of Amino Acid and Peptide Metabolism 271 Disorders of Carbohydrate Metabolism 276 Disorders of Steroid
Metabolism 277 Disorders of Lipid and Lipoprotein Metabolism 277 Lysosomal Storage Disorders 278 Disorders in the Metabolism of Purines, Pyrimidines, and Nucleotides 282 Disorders of Porphyrin and Heme Metabolism 282 Disorders in the Metabolism of Trace Elements and Metals 283
Contents Peroxisomal Disorders 284 Disorders of Fatty Acid and Ketone Body Metabolism 285 Disorders of Energy Metabolism 286 Prenatal Diagnosis of Inborn Errors of Metabolism 287 19 Mainstream Monogenic Disorders 289 Neurological Disorders 289 CADASIL and Early-Onset Dementia 290 Inherited Peripheral Neuropathies 292 Motor Neurone Disease 295 Neurocutaneous Disorders 295 Muscular Dystrophies 299 Respiratory Disorders 303 Inherited Cardiac Conditions 306 Connective Tissue Disorders 308 Renal Disorders 312 Blood Disorders 316 21 Genetic Counseling 338 Definition 338 Establishing the Diagnosis 338 Calculating and Presenting the Risk 339 Discussing the Options 340 Communication and Support 340 Genetic Counseling—Directive or Non-directive? 340 Outcomes in Genetic Counseling 341 Special Issues in Genetic Counseling 341 22 Ethical and Legal Issues in Medical Genetics 345 General Principles 345 Ethical Dilemmas in the Genetics Clinic 347 Ethical Dilemmas and the Public Interest 350 Glossary 355 Appendix: Websites and Clinical Databases 372 Multiple-Choice Questions 374 20 Prenatal Testing and Reproductive Genetics 322 Techniques Used in Prenatal Diagnosis 322 Antenatal and Prenatal Screening 324 Indications for Prenatal Testing 329 Special Problems in Prenatal Diagnosis 331 Termination of Pregnancy 332 Preimplantation Genetic Diagnosis 332 Assisted Conception and Implications for Genetic Disease 333 Prenatal Treatment 336 Case-Based Questions 382 Multiple-Choice Answers 387 Case-Based Answers and Discussion 396 Clinical Scenario Answers and Discussion 403 Index 412
ELEMENTS OF MEDICAL GENETICS AND GENOMICS PETER D.TURNPENNY, BSc, MB, СҺВ, FRCP, FRCPCH. FRCPath. FHEA SIAN ELLARD. OBE, BSc, PhD, FRCPath RUTH CLEAVER, BSc, MB. СҺВ, PGCert, MRCP Comprehensive coverage of genetics and genomics from medical school to clinical practice. Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. • Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. • Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. • Divided into three easy-to-use sections: The Scientific Basis of Human Genetics; Genetics in Medicine and Genomic Medicine; and Clinical Genetics, Counseling, and Ethics. • Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. • Contains learning features such as summary boxes, an
extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. • Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny, Sian Ellard, and new editor Ruth Cleaver. • Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices. |
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| index_date | 2024-07-03T16:29:08Z |
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| isbn | 9780702079665 |
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| spelling | Turnpenny, Peter D. ca. 20./21. Jh. Verfasser (DE-588)1229547088 aut Emery's elements of medical genetics and genomics Peter D. Turnpenny, Sian Ellard, Ruth Cleaver Elements of medical genetics Edition: 16 [London] Elsevier [2022] © 2022 x, 435 Seiten Illustrationen, Diagramme txt rdacontent n rdamedia nc rdacarrier Genetic Diseases, Inborn Genetics, Medical Humangenetik (DE-588)4072653-8 gnd rswk-swf Humangenetik (DE-588)4072653-8 s DE-604 Ellard, Sian ca. 20./21. Jh. Verfasser (DE-588)1229547452 aut Emery, Alan E. H. 1928- Begründer eines Werks (DE-588)1055762051 oth Digitalisierung UB Augsburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032526457&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Augsburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032526457&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Klappentext |
| spellingShingle | Turnpenny, Peter D. ca. 20./21. Jh Ellard, Sian ca. 20./21. Jh Emery's elements of medical genetics and genomics Genetic Diseases, Inborn Genetics, Medical Humangenetik (DE-588)4072653-8 gnd |
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| title | Emery's elements of medical genetics and genomics |
| title_alt | Elements of medical genetics |
| title_auth | Emery's elements of medical genetics and genomics |
| title_exact_search | Emery's elements of medical genetics and genomics |
| title_exact_search_txtP | Emery's elements of medical genetics and genomics |
| title_full | Emery's elements of medical genetics and genomics Peter D. Turnpenny, Sian Ellard, Ruth Cleaver |
| title_fullStr | Emery's elements of medical genetics and genomics Peter D. Turnpenny, Sian Ellard, Ruth Cleaver |
| title_full_unstemmed | Emery's elements of medical genetics and genomics Peter D. Turnpenny, Sian Ellard, Ruth Cleaver |
| title_short | Emery's elements of medical genetics and genomics |
| title_sort | emery s elements of medical genetics and genomics |
| topic | Genetic Diseases, Inborn Genetics, Medical Humangenetik (DE-588)4072653-8 gnd |
| topic_facet | Genetic Diseases, Inborn Genetics, Medical Humangenetik |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032526457&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032526457&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT turnpennypeterd emeryselementsofmedicalgeneticsandgenomics AT ellardsian emeryselementsofmedicalgeneticsandgenomics AT emeryalaneh emeryselementsofmedicalgeneticsandgenomics AT turnpennypeterd elementsofmedicalgenetics AT ellardsian elementsofmedicalgenetics AT emeryalaneh elementsofmedicalgenetics |