The calculation of genetic risks: worked examples in DNA diagnostics
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Baltimore [u.a.]
Johns Hopkins Univ. Press
1997
|
| Ausgabe: | 2. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XX, 222 S. graph. Darst. |
| ISBN: | 0801857449 |
Internformat
MARC
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| 245 | 1 | 0 | |a The calculation of genetic risks |b worked examples in DNA diagnostics |c Peter J. Bridge |
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| 264 | 1 | |a Baltimore [u.a.] |b Johns Hopkins Univ. Press |c 1997 | |
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| 650 | 4 | |a Genetik bozuklukları - Risk Faktörleri | |
| 650 | 2 | |a Génétique médicale | |
| 650 | 2 | |a Maladie héréditaire - Diagnostic | |
| 650 | 7 | |a Risicoanalyse |2 gtt | |
| 650 | 4 | |a Tıbbi genetik - Matematik - Problemler, alıştırmalar, vb | |
| 650 | 4 | |a Mathematik | |
| 650 | 4 | |a DNA Probes |x diagnostic use | |
| 650 | 4 | |a Genetic Diseases, Inborn |x diagnosis | |
| 650 | 4 | |a Genetic Diseases, Inborn |x genetics | |
| 650 | 4 | |a Genetic disorders |x Diagnosis | |
| 650 | 4 | |a Genetic disorders |x Risk factors | |
| 650 | 4 | |a Medical genetics |x Mathematics |x Problems, exercises, etc | |
| 650 | 4 | |a Molecular Probe Techniques | |
| 650 | 4 | |a Risk Factors | |
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Datensatz im Suchindex
| _version_ | 1804127045782863872 |
|---|---|
| adam_text | Contents
Acknowledgments xiii
Statement on Discrimination xv
Introduction xvii
1. General Introduction to the Estimation of Genetic Risks 1
1.1 Mendelian Risk 2
1.2 Risk Modified by Reproductive History 2
1.3 Risk Based on Phenotype 3
1.4 Risk Based on Genotype 3
1.5 Familial versus New Mutations 4
1.6 Meiotic versus Mitotic Mutations 4
1.7 Non Mendelian Genetic Mechanisms 5
2. Bayesian Risk Calculations for X Linked Recessive
Disorders 11
2.1 Unaffected Sons 11
2.2 Daughters with Unaffected Grandsons 14
2.3 Which Branches of the Family May Be Used? 16
2.4 Negative Family History 18
3. The Incorporation of Females with Biochemical Test Results
into Bayesian Calculations 37
3.1 Linearity of the Test Results 37
3.2 Column Ratios 39
x Contents
3.3 Biochemical Tests on the Consultant! Herself 40
3.4 Stating Conditional Probabilities in Words 40
3.5 Resolution of Conflicting Evidence 41
3.6 Noncarrier Ratios 43
3.7 Negative Family History 46
4. Pedigree Risks in Autosomal Conditions 51
4.1 Autosomal Dominant Inheritance 51
4.2 Autosomal Recessive Inheritance 60
4.3 The Hardy Weinberg Law 65
4.4 Consanguinity 67
5. Introduction to DNA Polymorphism 75
5.1 Types of DNA Polymorphism 75
5.2 The Significance of Phase 79
5.3 Flanking Markers 84
6. Statistical Approaches to Gene Mapping 87
6.1 Lod Scores 87
6.2 Probabilities over Pedigrees 99
6.3 Multipoint Linkage Analysis 104
6.4 Nonparametric Methods 107
6.5 Autozygosity Mapping 108
6.6 Physical Mapping 109
6.7 Annotation 109
7. The Use of DNA Markers to Predict Genetic Risks 111
7.1 Single Markers in Familial Cases 111
7.2 Flanking Markers in Familial Cases 118
7.3 Single Markers and Potentially New Mutations 129
7.4 Flanking Markers and Potentially New Mutations 135
7.5 Direct Detection of Mutations 135
7.6 Uniparental Disomy 139
7.7 Genetic Heterogeneity 145
7.8 Linkage Disequilibrium and Haplotype Analysis 145
Contents xi
7.9 When Do Mutations Occur? 152
7.10 Haploid Risk Calculations 155
8. The Integration of RFLP Data with Non DNA Parameters 158
8.1 Biochemical Test Results 158
8.2 Incomplete Penetrance and Age at Onset Corrections 166
8.3 Testing for Hereditary Predispositions to Cancer 170
9. Other DNA Based Calculations 175
9.1 Paternity 175
9.2 Zygosity 181
Appendix 185
Glossary 199
References 211
Index 217
|
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| illustrated | Illustrated |
| indexdate | 2024-07-09T18:27:07Z |
| institution | BVB |
| isbn | 0801857449 |
| language | English |
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| spelling | Bridge, Peter J. Verfasser aut The calculation of genetic risks worked examples in DNA diagnostics Peter J. Bridge 2. ed. Baltimore [u.a.] Johns Hopkins Univ. Press 1997 XX, 222 S. graph. Darst. txt rdacontent n rdamedia nc rdacarrier Erfelijke ziekten gtt Genanalyse gtt Genetik bozuklukları - Hastalıklar Genetik bozuklukları - Risk Faktörleri Génétique médicale Maladie héréditaire - Diagnostic Risicoanalyse gtt Tıbbi genetik - Matematik - Problemler, alıştırmalar, vb Mathematik DNA Probes diagnostic use Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn genetics Genetic disorders Diagnosis Genetic disorders Risk factors Medical genetics Mathematics Problems, exercises, etc Molecular Probe Techniques Risk Factors Risikoanalyse (DE-588)4137042-9 gnd rswk-swf Genanalyse (DE-588)4200230-8 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 s Risikoanalyse (DE-588)4137042-9 s Genanalyse (DE-588)4200230-8 s DE-604 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008419885&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Bridge, Peter J. The calculation of genetic risks worked examples in DNA diagnostics Erfelijke ziekten gtt Genanalyse gtt Genetik bozuklukları - Hastalıklar Genetik bozuklukları - Risk Faktörleri Génétique médicale Maladie héréditaire - Diagnostic Risicoanalyse gtt Tıbbi genetik - Matematik - Problemler, alıştırmalar, vb Mathematik DNA Probes diagnostic use Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn genetics Genetic disorders Diagnosis Genetic disorders Risk factors Medical genetics Mathematics Problems, exercises, etc Molecular Probe Techniques Risk Factors Risikoanalyse (DE-588)4137042-9 gnd Genanalyse (DE-588)4200230-8 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| subject_GND | (DE-588)4137042-9 (DE-588)4200230-8 (DE-588)4015106-2 |
| title | The calculation of genetic risks worked examples in DNA diagnostics |
| title_auth | The calculation of genetic risks worked examples in DNA diagnostics |
| title_exact_search | The calculation of genetic risks worked examples in DNA diagnostics |
| title_full | The calculation of genetic risks worked examples in DNA diagnostics Peter J. Bridge |
| title_fullStr | The calculation of genetic risks worked examples in DNA diagnostics Peter J. Bridge |
| title_full_unstemmed | The calculation of genetic risks worked examples in DNA diagnostics Peter J. Bridge |
| title_short | The calculation of genetic risks |
| title_sort | the calculation of genetic risks worked examples in dna diagnostics |
| title_sub | worked examples in DNA diagnostics |
| topic | Erfelijke ziekten gtt Genanalyse gtt Genetik bozuklukları - Hastalıklar Genetik bozuklukları - Risk Faktörleri Génétique médicale Maladie héréditaire - Diagnostic Risicoanalyse gtt Tıbbi genetik - Matematik - Problemler, alıştırmalar, vb Mathematik DNA Probes diagnostic use Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn genetics Genetic disorders Diagnosis Genetic disorders Risk factors Medical genetics Mathematics Problems, exercises, etc Molecular Probe Techniques Risk Factors Risikoanalyse (DE-588)4137042-9 gnd Genanalyse (DE-588)4200230-8 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| topic_facet | Erfelijke ziekten Genanalyse Genetik bozuklukları - Hastalıklar Genetik bozuklukları - Risk Faktörleri Génétique médicale Maladie héréditaire - Diagnostic Risicoanalyse Tıbbi genetik - Matematik - Problemler, alıştırmalar, vb Mathematik DNA Probes diagnostic use Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn genetics Genetic disorders Diagnosis Genetic disorders Risk factors Medical genetics Mathematics Problems, exercises, etc Molecular Probe Techniques Risk Factors Risikoanalyse Erbkrankheit |
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