Emery's elements of medical genetics:
Saved in:
| Main Author: | |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
[Philadelphia, Pa.]
Churchill Livingstone, Elsevier
2007
|
| Edition: | 13. ed. |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | X, 423 S. Ill., graph. Darst. |
Staff View
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| 245 | 1 | 0 | |a Emery's elements of medical genetics |c Peter D. Turnpenny ; Sian Ellard |
| 250 | |a 13. ed. | ||
| 264 | 1 | |a [Philadelphia, Pa.] |b Churchill Livingstone, Elsevier |c 2007 | |
| 300 | |a X, 423 S. |b Ill., graph. Darst. | ||
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| 650 | 4 | |a Genetic Diseases, Inborn | |
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Record in the Search Index
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| adam_text | CONTENTS
Dedication ii
Preface ix
Acknowledgements x
SECTION
PRINCIPLES OF
HUMAN GENETICS
1 The history and impact of genetics in medicine 3
Gregor Mendel and the laws of inheritance 3
DNA as the basis of inheritance 5
The fruit fly 6
The origins of medical genetics 7
The impact of genetic disease 9
Major new developments 9
2 The cellular and molecular basis of inheritance 12
The cell 12
DNA: the hereditary material 12
Chromosome structure 14
Types of DNA sequence 14
Transcription 18
Translation 18
The genetic code 20
Regulation of gene expression 20
RNA-directed DNA synthesis 22
Mutations 22
Mutations and mutagenesis 26
3 Chromosomes and cell division 30
Human chromosomes 30
Methods of chromosome analysis 32
Molecular cytogenetics 34
Chromosome nomenclature 38
Cell division 40
Gametogenesis 43
Chromosome abnormalities 45
I* DNA technology and applications 55
DNA cloning 55
Techniques of DNA analysis 59
Biological hazards of DNA technology 70
5 Mapping and identifying genes for monogenic
disorders 73
Position-independent identification of human disease
genes 73
Positional cloning 74
The Human Genome Project 75
6 Developmental genetics 82
Fertilization and gastrulation 82
Developmental gene families 83
The limb as a developmental model 93
Developmental genes and cancer 94
Positional effects and developmental genes 95
Hydatidiform moles 96
Sexual differentiation and determination 96
Epigenetics and development 98
Twinning 101
7 Patterns of inheritance 103
Family studies 103
Mendelian inheritance 103
Multiple alleles and complex traits 113
Anticipation 114
Mosaicism 114
Uniparentaldisomy 115
Genomic imprinting 115
Mitochondrial inheritance 120
8 Mathematical and population genetics 122
Allele frequencies in populations 122
Genetic polymorphism 128
Segregation analysis 129
Genetic linkage 130
Medical and societal intervention 133
Conclusion 134
9 Polygenic and multifactorial inheritance 136
Polygenic inheritance and the normal distribution 136
Multifactorial inheritance -the liability/threshold
model 138
Heritability 139
Identifying genes that cause multifactorial
disorders 140
Conclusion 143
SECTION
GENETICS IN
MEDICINE
10 Hemoglobin and the hemoglobinopathies 147
Structure of hemoglobin 147
Developmental expression of hemoglobin 147
Globin chain structure 148
Synthesis and control of hemoglobin expression 149
Disorders of hemoglobin 150
Clinical variation of the hemoglobinopathies 156
11 Biochemical genetics 158
Inborn errors of metabolism 158
Disorders of amino-acid metabolism 158
Disorders of branched-chain amino-acid
metabolism 163
Urea cycle disorders 163
Disorders of carbohydrate metabolism 164
Disorders of steroid metabolism 165
Disorders of lipid metabolism 167
Lysosomal storage disorders 168
Disorders of purine/pyrimidine metabolism 171
Disorders of porphyrin metabolism 171
Organic-acid disorders 172
Disorders of copper metabolism 172
Peroxisomal disorders 173
Disorders affecting mitochondrial function 174
Prenatal diagnosis of inborn errors of metabolism 176
12 Pharmacogenetics 177
Definition 177
Drug metabolism 177
Genetic variations revealed solely by the effect of
drugs 178
Pharmacogenetics 181
Ecogenetics 182
13 Immunogenetics 184
Immunity 184
Innate immunity 184
Specific acquired immunity 185
Inherited immunodeficiency disorders 190
Blood groups 192
14 Cancer genetics 196
Differentiation between genetic and environmental
factors in cancer 196
Oncogenes 198
Tumor suppressor genes 201
Epigenetics and cancer 205
Genetics of common cancers 207
Genetic counseling in familial cancer 212
15 Genetic factors in common diseases 219
Genetic susceptibility to common disease 219
Diabetes mellitus 221
Crohn disease 224
Hypertension 225
Coronary artery disease 225
Epilepsies 227
Autism 228
Schizophrenia 228
Alzheimer disease 229
Hemochromatosis 230
Venous thrombosis 231
Atopic disease 232
Age-related macular degeneration 232
SECTION
CLINICAL
GENETICS
16 Congenital abnormalities and dysmorphic
syndromes 237
Incidence 237
Definition and classification of birth defects 238
Genetic causes of malformations 243
Environmental agents (teratogens) 248
Malformations of unknown cause 251
Counseling 252
17 Genetic counseling 253
Definition 253
Establishing the diagnosis 253
Calculating and presenting the risk 254
Discussing the options 255
Communication and support 255
Genetic counseling - directive or non-directive? 256
Outcomes in genetic counseling 256
Special problems in genetic counseling 257
18 Chromosome disorders 261
Incidence of chromosome abnormalities 261
Disorders of the sex chromosomes 271
Chromosome disorders and behavioral
phenotypes 275
Disorders of sexual differentiation 275
Chromosomal breakage syndromes 277
Indications for chromosomal analysis 279
19 Single-gene disorders 282
Huntington disease 282
Myotonic dystrophy 284
Hereditary motor and sensory neuropathy 286
Neurofibromatosis 287
Marfan syndrome 289
Cystic fibrosis 291
Inherited cardiac arrhythmias and
cardiomyopathies 294
Spinal muscular atrophy 296
Duchenne muscular dystrophy 297
Hemophilia 299
20 Screening for genetic disease 303
Screening those at high risk 303
Carrier testing for autosomal recessive and X-linked
disorders 303
Presymptomatic diagnosis of autosomal dominant
disorders 306
Ethical considerations in carrier detection and predictive
testing 308
Population screening 308
Criteria for a screening program 309
Neonatal screening 310
Population carrier screening 311
Genetic registers 313
21 Prenatal testing and reproductive genetics 315
Techniques used in prenatal diagnosis 315
Prenatal screening 318
Indications for prenatal diagnosis 321
Special problems in prenatal diagnosis 323
Termination of pregnancy 325
Preimplantation genetic diagnosis 325
Assisted conception and implications for genetic
disease 326
Detection of fetal cells in the maternal circulation 328
Prenatal treatment 328
22 Risk calculation 330
Probability theory 330
Autosomal dominant inheritance 331
Autosomal recessive inheritance 333
Sex-linked recessive inheritance 334
The use of linked markers 336
Bayes theorem and prenatal screening 337
Empiric risks 337
23 Treatment of genetic disease 3A0
Conventional approaches to treatment of genetic
disease 340
Therapeutic applications of recombinant DNA
technology 342
Gene therapy 342
24 Ethical and legal issues in medical genetics 354
General principles 354
Ethical dilemmas 356
Ethical dilemmas in a wider context 359
Conclusion 362
Appendix - Websites and clinical databases 364
Glossary 366
Multiple-choice questions 378
Case-based questions 390
Multiple-choice answers 395
Case-based answers 407
Index 413
|
| adam_txt |
CONTENTS
Dedication ii
Preface ix
Acknowledgements x
SECTION
PRINCIPLES OF
HUMAN GENETICS
1 The history and impact of genetics in medicine 3
Gregor Mendel and the laws of inheritance 3
DNA as the basis of inheritance 5
The fruit fly 6
The origins of medical genetics 7
The impact of genetic disease 9
Major new developments 9
2 The cellular and molecular basis of inheritance 12
The cell 12
DNA: the hereditary material 12
Chromosome structure 14
Types of DNA sequence 14
Transcription 18
Translation 18
The genetic code 20
Regulation of gene expression 20
RNA-directed DNA synthesis 22
Mutations 22
Mutations and mutagenesis 26
3 Chromosomes and cell division 30
Human chromosomes 30
Methods of chromosome analysis 32
Molecular cytogenetics 34
Chromosome nomenclature 38
Cell division 40
Gametogenesis 43
Chromosome abnormalities 45
I* DNA technology and applications 55
DNA cloning 55
Techniques of DNA analysis 59
Biological hazards of DNA technology 70
5 Mapping and identifying genes for monogenic
disorders 73
Position-independent identification of human disease
genes 73
Positional cloning 74
The Human Genome Project 75
6 Developmental genetics 82
Fertilization and gastrulation 82
Developmental gene families 83
The limb as a developmental model 93
Developmental genes and cancer 94
Positional effects and developmental genes 95
Hydatidiform moles 96
Sexual differentiation and determination 96
Epigenetics and development 98
Twinning 101
7 Patterns of inheritance 103
Family studies 103
Mendelian inheritance 103
Multiple alleles and complex traits 113
Anticipation 114
Mosaicism 114
Uniparentaldisomy 115
Genomic imprinting 115
Mitochondrial inheritance 120
8 Mathematical and population genetics 122
Allele frequencies in populations 122
Genetic polymorphism 128
Segregation analysis 129
Genetic linkage 130
Medical and societal intervention 133
Conclusion 134
9 Polygenic and multifactorial inheritance 136
Polygenic inheritance and the normal distribution 136
Multifactorial inheritance -the liability/threshold
model 138
Heritability 139
Identifying genes that cause multifactorial
disorders 140
Conclusion 143
SECTION
GENETICS IN
MEDICINE
10 Hemoglobin and the hemoglobinopathies 147
Structure of hemoglobin 147
Developmental expression of hemoglobin 147
Globin chain structure 148
Synthesis and control of hemoglobin expression 149
Disorders of hemoglobin 150
Clinical variation of the hemoglobinopathies 156
11 Biochemical genetics 158
Inborn errors of metabolism 158
Disorders of amino-acid metabolism 158
Disorders of branched-chain amino-acid
metabolism 163
Urea cycle disorders 163
Disorders of carbohydrate metabolism 164
Disorders of steroid metabolism 165
Disorders of lipid metabolism 167
Lysosomal storage disorders 168
Disorders of purine/pyrimidine metabolism 171
Disorders of porphyrin metabolism 171
Organic-acid disorders 172
Disorders of copper metabolism 172
Peroxisomal disorders 173
Disorders affecting mitochondrial function 174
Prenatal diagnosis of inborn errors of metabolism 176
12 Pharmacogenetics 177
Definition 177
Drug metabolism 177
Genetic variations revealed solely by the effect of
drugs 178
Pharmacogenetics 181
Ecogenetics 182
13 Immunogenetics 184
Immunity 184
Innate immunity 184
Specific acquired immunity 185
Inherited immunodeficiency disorders 190
Blood groups 192
14 Cancer genetics 196
Differentiation between genetic and environmental
factors in cancer 196
Oncogenes 198
Tumor suppressor genes 201
Epigenetics and cancer 205
Genetics of common cancers 207
Genetic counseling in familial cancer 212
15 Genetic factors in common diseases 219
Genetic susceptibility to common disease 219
Diabetes mellitus 221
Crohn disease 224
Hypertension 225
Coronary artery disease 225
Epilepsies 227
Autism 228
Schizophrenia 228
Alzheimer disease 229
Hemochromatosis 230
Venous thrombosis 231
Atopic disease 232
Age-related macular degeneration 232
SECTION
CLINICAL
GENETICS
16 Congenital abnormalities and dysmorphic
syndromes 237
Incidence 237
Definition and classification of birth defects 238
Genetic causes of malformations 243
Environmental agents (teratogens) 248
Malformations of unknown cause 251
Counseling 252
17 Genetic counseling 253
Definition 253
Establishing the diagnosis 253
Calculating and presenting the risk 254
Discussing the options 255
Communication and support 255
Genetic counseling - directive or non-directive? 256
Outcomes in genetic counseling 256
Special problems in genetic counseling 257
18 Chromosome disorders 261
Incidence of chromosome abnormalities 261
Disorders of the sex chromosomes 271
Chromosome disorders and behavioral
phenotypes 275
Disorders of sexual differentiation 275
Chromosomal breakage syndromes 277
Indications for chromosomal analysis 279
19 Single-gene disorders 282
Huntington disease 282
Myotonic dystrophy 284
Hereditary motor and sensory neuropathy 286
Neurofibromatosis 287
Marfan syndrome 289
Cystic fibrosis 291
Inherited cardiac arrhythmias and
cardiomyopathies 294
Spinal muscular atrophy 296
Duchenne muscular dystrophy 297
Hemophilia 299
20 Screening for genetic disease 303
Screening those at high risk 303
Carrier testing for autosomal recessive and X-linked
disorders 303
Presymptomatic diagnosis of autosomal dominant
disorders 306
Ethical considerations in carrier detection and predictive
testing 308
Population screening 308
Criteria for a screening program 309
Neonatal screening 310
Population carrier screening 311
Genetic registers 313
21 Prenatal testing and reproductive genetics 315
Techniques used in prenatal diagnosis 315
Prenatal screening 318
Indications for prenatal diagnosis 321
Special problems in prenatal diagnosis 323
Termination of pregnancy 325
Preimplantation genetic diagnosis 325
Assisted conception and implications for genetic
disease 326
Detection of fetal cells in the maternal circulation 328
Prenatal treatment 328
22 Risk calculation 330
Probability theory 330
Autosomal dominant inheritance 331
Autosomal recessive inheritance 333
Sex-linked recessive inheritance 334
The use of linked markers 336
Bayes' theorem and prenatal screening 337
Empiric risks 337
23 Treatment of genetic disease 3A0
Conventional approaches to treatment of genetic
disease 340
Therapeutic applications of recombinant DNA
technology 342
Gene therapy 342
24 Ethical and legal issues in medical genetics 354
General principles 354
Ethical dilemmas 356
Ethical dilemmas in a wider context 359
Conclusion 362
Appendix - Websites and clinical databases 364
Glossary 366
Multiple-choice questions 378
Case-based questions 390
Multiple-choice answers 395
Case-based answers 407
Index 413 |
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| index_date | 2024-07-02T19:39:36Z |
| indexdate | 2024-07-09T21:10:42Z |
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| spelling | Turnpenny, Peter D. ca. 20./21. Jh. Verfasser (DE-588)1229547088 aut Emery's elements of medical genetics Peter D. Turnpenny ; Sian Ellard 13. ed. [Philadelphia, Pa.] Churchill Livingstone, Elsevier 2007 X, 423 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Human genetics Medical genetics Genetics, Medical Genetic Diseases, Inborn Humangenetik (DE-588)4072653-8 gnd rswk-swf Humangenetik (DE-588)4072653-8 s DE-604 Emery, Alan E. H. 1928- Sonstige (DE-588)1055762051 oth Ellard, Sian ca. 20./21. Jh. Sonstige (DE-588)1229547452 oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016290037&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Turnpenny, Peter D. ca. 20./21. Jh Emery's elements of medical genetics Human genetics Medical genetics Genetics, Medical Genetic Diseases, Inborn Humangenetik (DE-588)4072653-8 gnd |
| subject_GND | (DE-588)4072653-8 |
| title | Emery's elements of medical genetics |
| title_auth | Emery's elements of medical genetics |
| title_exact_search | Emery's elements of medical genetics |
| title_exact_search_txtP | Emery's elements of medical genetics |
| title_full | Emery's elements of medical genetics Peter D. Turnpenny ; Sian Ellard |
| title_fullStr | Emery's elements of medical genetics Peter D. Turnpenny ; Sian Ellard |
| title_full_unstemmed | Emery's elements of medical genetics Peter D. Turnpenny ; Sian Ellard |
| title_short | Emery's elements of medical genetics |
| title_sort | emery s elements of medical genetics |
| topic | Human genetics Medical genetics Genetics, Medical Genetic Diseases, Inborn Humangenetik (DE-588)4072653-8 gnd |
| topic_facet | Human genetics Medical genetics Genetics, Medical Genetic Diseases, Inborn Humangenetik |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016290037&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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