Analysis of triplet repeat disorders:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Oxford [u.a.]
BIOS Scientific
1998
|
| Ausgabe: | 1. publ. |
| Schriftenreihe: | Human molecular genetics series
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XVII, 327 S. Ill., graph. Darst. |
| ISBN: | 1859962661 |
Internformat
MARC
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| 245 | 1 | 0 | |a Analysis of triplet repeat disorders |c D. C. Rubinsztein ... |
| 250 | |a 1. publ. | ||
| 264 | 1 | |a Oxford [u.a.] |b BIOS Scientific |c 1998 | |
| 300 | |a XVII, 327 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 490 | 0 | |a Human molecular genetics series | |
| 650 | 4 | |a Genetic disorders | |
| 650 | 4 | |a Génétique moléculaire humaine | |
| 650 | 4 | |a Maladies héréditaires | |
| 650 | 4 | |a Pathologie moléculaire | |
| 650 | 4 | |a Pathology, Molecular | |
| 650 | 4 | |a Chromosome Aberrations | |
| 650 | 4 | |a Fragile X Syndrome |x genetics | |
| 650 | 4 | |a Human molecular genetics | |
| 650 | 4 | |a Huntington Disease |x genetics | |
| 650 | 4 | |a Spinocerebellar Degenerations |x genetics | |
| 650 | 4 | |a Trinucleotide Repeats |x genetics | |
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Datensatz im Suchindex
| _version_ | 1804126984129740800 |
|---|---|
| adam_text | Contents
Contributors ix
Abbreviations xii
Preface xiv
Foreword xv
1 Introduction. D. C. Rubinsztein and M.R. Hayden 1
Non Mendelian inheritance 2
Trinucleotide repeat diseases overview 2
Conclusions 10
References 10
2 The FRAXA fragile site and fragile X syndrome. E.E. Eichler and
D.L. Nelson 13
Introduction 13
Clinical aspects 14
Historical aspects 18
The fragile X mutation 23
The FMR1 gene 32
Summary 39
References 39
3 Molecular studies of the fragile sites FRAXE and FRAXF.
J.A. Skinner, G.S. Foss, W.J. Miller andK.E. Davies 51
Introduction 51
The FRAXE trinucleotide repeats 51
Expansion and transmission of the FRAXE trinucleotide repeat 52
Molecular diagnosis of FRAXE 53
Prevalence of FRAXE expansion 53
Clinical phenotype of FRAXE individuals 54
Patient management 55
Identification of the gene FMR2 associated with FRAXE 55
The FRAXF trinucleotide repeat 56
Summary 58
References 58
4 Myotonic dystrophy. M. Hamshere, E. Newman, M. Alwazzan
andJ.D. Brook 61
Introduction 61
Epidemiology and prevelance 61
Clinical features 62
Evidence for anticipation 65
Identification of the gene 66
DMPK: normal function of the protein 67
The mutation genotype/phenotype relationship 69
vi Contents
Molecular phenotype of DM 70
Three models for the molecular mechanism of DM 73
Mouse models 76
References 78
5 Spinobulbar muscular atrophy. L.K. Beitel, MA. Trifiro
and L. Pinsky 85
Introduction 85
Epidemiology and prevalence 86
Clinical features and natural history of SBMA 86
Laboratory features 89
Expression in carriers 91
Genetic features 91
Mutation and its relation to phenotype 93
Pathogenetic concepts 94
Management 98
Summary 98
References 99
6 Polyglutamine tract vs. protein context in SCA1 pathogenesis.
H.T.Orr and H. Y. Zoghbi 105
Introduction 105
Cellular localization studies of wild type and mutant ataxin 1 106
Ataxin 1 interacting proteins 107
SCA1 transgenic mice develop a progressive neurological disease 109
The importance of protein context in SCA1 pathogenesis 113
References 115
7 Spinocerebellar ataxia type 2 (SCA2). S. M. Pulst 119
Epidemiology 119
Identification of the SCA2 gene 119
cDNA sequence 120
References 127
8 Spinocerebellar ataxia type 3/Machado Joseph disease. H.L. Paulson 129
History of SCA3/MJD: two names one disease 129
Clinical features 131
Pathological features 131
Molecular genetics of disease 135
Molecular mechanism of degeneration 139
References 141
9 Spinocerebellar ataxia type 6 (SCA6). Cheng Chi Lee 145
Introduction 145
The human a1A voltage dependent Ca2+ channel 146
Allelic disorders of spinocerebellar ataxia type 6 (SCA6) 147
Clinical and pathological findings in SCA6 patients 148
Ethnic frequency, age of onset and CAG repeat length 149
Clinical anticipation and transmission stability of expanded SCA6 allele 150
Summary 150
References 151
Contents vii
10 Spinocerebellar ataxia type 7 (SCA7). G. Stevanin, G. David, N. Abbas,
A. Dun, M. Holmberg, C. Duyckaerts, P. Giunti, G. Cancel, M, Ruberg,
J. L. Mandel and A. Brice 155
Introduction 155
Clinical and neuropathological features 155
Genetics and epidemiology 157
Identification of the SCA7 gene and the unstable mutation 158
Analysis of the CAG repeat sequence 159
Phenotype genotype correlations 161
Intermediate alleles and new mutations to SCA7 162
Pathophysiology of SC A7 164
Summary 165
References 166
11 Huntington s Disease. C.A. Ross and M.R. Hayden 169
Clinical features of Huntington s disease 169
The genetic aetiology of HD 171
Diagnosis of HD 172
The genetics of HD 173
Pathology of HD 179
Targeted gene deletions: insights into the role of the normal gene 181
Biochemistry and cell biology 182
Interacting proteins 183
Neurotoxicity 184
Polyglutamine 185
In vitro studies to understand the pathogenesis of HD 185
Transgenic animal models 188
Studies of human post mortem brains 189
A model connecting aggregates and cell death 190
References 191
12 Dentatorubral pallidoluysian atrophy (DRLPA). S. Tsuji 209
Introduction 209
Molecular genetics of DRPLA 210
Clinical features of DRPLA and the genotype phenotype correlation 211
Molecular basis of genetic anticipation 213
Mechanisms of neurodegeneration caused by CAG repeat expansion 213
References 215
13 Friedreich s ataxia. M. Kanig 219
Introduction and history 219
Clinical aspects 219
Identification of the Friedriech s ataxia gene 223
Analysis of the GAA trinucleotide expansion 226
A mitochondrial function for frataxin 230
Conclusions 233
References 234
viii Contents
14 Anticipation, triplet repeats and psychiatric disorders.
M.G. Mclnnis and R. L. Margolis 239
Introduction 239
Psychiatric disorders and anticipation 240
Does anticipation in psychiatric disorders derive from
trinucleotide repeat expansions? 244
Conclusion 248
References 249
15 Trinucleotide repeat mutation processes. D. C. Rubinsztein and B. Amos 257
Introduction 257
General principles, features of microsatellite mutations 257
Mutations at triplet repeat disease loci 261
Conclusions 264
References 265
16 Diagnostic testing for trinucleotide repeat diseases. B. W. Popovich
and F. Quan 269
Introduction 269
Diagnostic techniques 270
An overview of testing strategies 272
Fragile X syndrome 273
FRAXE mental retardation 1 277
Myotonic dystrophy 278
Autosomal dominant cerebellar ataxias 280
Dentatorubralpallidoluysion atrophy 285
Huntington s disease 286
Spinal bulbar muscular atrophy 289
Friedreich s ataxia 290
Summary 291
References 292
17 Predictive testing for trinucleotide repeat disorders. D. Craufurd 305
Introduction 305
Predictive testing by linkage analysis 306
Direct testing 306
Practical consequences 307
The psychological impact of predictive testing 308
Impact on family 310
Uptake of predictive testing 311
Guidelines for genetic counselling 313
Relevance of predictive test guidelines for diagnostic testing 315
Prenatal testing 316
Testing for other trinucleotide repeat disorders 318
References 320
Index 325
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| indexdate | 2024-07-09T18:26:08Z |
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| isbn | 1859962661 |
| language | English |
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| spelling | Analysis of triplet repeat disorders D. C. Rubinsztein ... 1. publ. Oxford [u.a.] BIOS Scientific 1998 XVII, 327 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Human molecular genetics series Genetic disorders Génétique moléculaire humaine Maladies héréditaires Pathologie moléculaire Pathology, Molecular Chromosome Aberrations Fragile X Syndrome genetics Human molecular genetics Huntington Disease genetics Spinocerebellar Degenerations genetics Trinucleotide Repeats genetics Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Genetik (DE-588)4071711-2 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Erbkrankheit (DE-588)4015106-2 s Genetik (DE-588)4071711-2 s DE-604 Rubinsztein, D. C. Sonstige oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008378586&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Analysis of triplet repeat disorders Genetic disorders Génétique moléculaire humaine Maladies héréditaires Pathologie moléculaire Pathology, Molecular Chromosome Aberrations Fragile X Syndrome genetics Human molecular genetics Huntington Disease genetics Spinocerebellar Degenerations genetics Trinucleotide Repeats genetics Erbkrankheit (DE-588)4015106-2 gnd Genetik (DE-588)4071711-2 gnd |
| subject_GND | (DE-588)4015106-2 (DE-588)4071711-2 (DE-588)4143413-4 |
| title | Analysis of triplet repeat disorders |
| title_auth | Analysis of triplet repeat disorders |
| title_exact_search | Analysis of triplet repeat disorders |
| title_full | Analysis of triplet repeat disorders D. C. Rubinsztein ... |
| title_fullStr | Analysis of triplet repeat disorders D. C. Rubinsztein ... |
| title_full_unstemmed | Analysis of triplet repeat disorders D. C. Rubinsztein ... |
| title_short | Analysis of triplet repeat disorders |
| title_sort | analysis of triplet repeat disorders |
| topic | Genetic disorders Génétique moléculaire humaine Maladies héréditaires Pathologie moléculaire Pathology, Molecular Chromosome Aberrations Fragile X Syndrome genetics Human molecular genetics Huntington Disease genetics Spinocerebellar Degenerations genetics Trinucleotide Repeats genetics Erbkrankheit (DE-588)4015106-2 gnd Genetik (DE-588)4071711-2 gnd |
| topic_facet | Genetic disorders Génétique moléculaire humaine Maladies héréditaires Pathologie moléculaire Pathology, Molecular Chromosome Aberrations Fragile X Syndrome genetics Human molecular genetics Huntington Disease genetics Spinocerebellar Degenerations genetics Trinucleotide Repeats genetics Erbkrankheit Genetik Aufsatzsammlung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008378586&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT rubinszteindc analysisoftripletrepeatdisorders |