The molecular genetics of haemostasis and its inherited disorders:
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Oxford u.a.
Oxford Univ. Press
1994
|
| Schriftenreihe: | Oxford monographs on medical genetics
25 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XVIII, 585 S. graph. Darst. |
| ISBN: | 0192616617 |
Internformat
MARC
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| 100 | 1 | |a Tuddenham, Edward G. |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a The molecular genetics of haemostasis and its inherited disorders |c Edward G. D. Tuddenham ; David N. Cooper |
| 264 | 1 | |a Oxford u.a. |b Oxford Univ. Press |c 1994 | |
| 300 | |a XVIII, 585 S. |b graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
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| 490 | 1 | |a Oxford monographs on medical genetics |v 25 | |
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| 650 | 7 | |a Bloedstolling |2 gtt | |
| 650 | 2 | |a Coagulation sanguine - Génétique | |
| 650 | 7 | |a Erfelijke ziekten |2 gtt | |
| 650 | 2 | |a Facteurs de la coagulation sanguine - Génétique | |
| 650 | 7 | |a Stollingsafwijkingen |2 gtt | |
| 650 | 2 | |a Troubles de l'hémostase et de la coagulation - Génétique | |
| 650 | 4 | |a Blood Coagulation Disorders |x genetics | |
| 650 | 4 | |a Blood Coagulation Factors |x genetics | |
| 650 | 4 | |a Blood Coagulation |x genetics | |
| 650 | 4 | |a Blood coagulation disorders |x Genetic aspects | |
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Datensatz im Suchindex
| _version_ | 1804123743583207424 |
|---|---|
| adam_text | OXFORD MONOGRAPHS ON MEDICAL GENETICS
No 25
The Molecular Genetics of
Haemostasis and its
Inherited Disorders
*
EDWARD G D TUDDENHAM
Director, Haemostasis Research Group, Medical Research Council,
Clinical Research Centre, Harrow, Middlesex
DAVID N COOPER
Senior Lecturer in Molecular Genetics, Charter Molecular Genetics Laboratory,
Thrombosis Research Institute, London
Oxford New York Tokyo
OXFORD UNIVERSITY PRESS
Contents
1 Introduction 1
1 The coagulation cascade 1
1 1 Contact phase 1
1 2 Intermediate stages 3
1 3 Terminal stage 3
1 4 Tissue factor-dependent initiation 4
2 Natural control mechanisms in
coagulation 4
2 1 Antithrombin III 4
2 2 Tissue factor pathway inhibitor 5
2 3 Protein C pathway 6
3 The clot-dissolving system 7
4 Platelets and haemostasis 7
5 Structure and function in haemostasis 8
6 Molecular assembly of coagulation
proteins and their evolutionary
relationships inferred from gene
structure 9
7 Functional anatomy of the human
genome 12
8 Human gene mutation and its analysis 13
9 Single base-pair substitutions 14
10 Gene deletions 16
11 Insertional mutations 17
12 Splice site mutations 17
13 The role of mutation research 18
2 Factor VIII and haemophilia A 19
1 Introduction 19
1 1 History of haemophilia 19
1 2 Haemophilia A: factor VIII deficiency 23
1 3 Diagnosis 24
2 Protein structure: domains and
homologies 25
3 Structure and function 26
3 1 Proteolytic processing, activation, and
inactivation 28
3 2 Antibody studies 33
3 3 Site-directed mutagenesis and naturally
occurring mutants of factor VIII 33
3 4 The active form of factor VIII
and its decay 36
4 Interaction with other substances 37
4 1 Interaction with divalent cations 37
4 2 Interaction with von Willebrand factor 37
4 3 Platelet-phospholipid interactions 38
5 The factor VIII gene 39
5 1 Cloning and gene structure 39
5 2 Sequence homologies at the nucleic
acid level 40
5 3 Chromosome mapping around the
factor VIII gene 42
6 DNA polymorphisms and
their diagnostic uses 44
6 1 Intragenic RFLPs 44
6 2 Extragenic RFLPs 45
6 3 Use of RFLP analysis in the prenatal
diagnosis and carrier detection of
haemophilia A 49
6 4 Carrier testing and prenatal diagnosis by
direct detection of mutational lesions 51
6 5 The polymerase chain reaction (PCR)
and the diagnosis of haemophilia A 51
7 Mutations of the factor VIII gene 53
7 1 Point mutations in the factor VIII
gene 53
7 2 DNA sequence polymorphisms in the
factor VIII gene 62
7 3 Deletions at the factor VIII gene locus 62
7 4 Insertions within the factor VIII gene 66
7 5 Duplication of factor VIII gene
sequence 69
7 6 Mutations affecting mRNA splicing 69
7 7 De novo mutation in haemophilia A 70
7 8 Somatic and germline mosaicism 72
7 9 Haemophilia A in females 72
7 10 Uniparental disomy 73
7 11 Variable expression of factor VIII in
haemophilia A 73
x Contents
8 Expression of the factor VIII gene 73
8 1 Site and level of synthesis 73
9 In vitro production of recombinant
factor VIII 74
10 Prospects for gene therapy 75
11 Social factors 76
11 1 Genetic counselling 76
11 2 Attitudes to haemophilia 76
11 3 Life prospects for haemophiliacs 76
3 Factor IX and haemophilia B 78
1 Introduction 78
2 Protein structure 78
2 1 Primary structure 78
2 2 Homologies, secondary and tertian
structure 80
2 3 Post-translational modifications of
factor IX 80
2 4 Activation of factor IX 81
2 5 Structure-function relationships 83
3 The factor IX gene 86
3 1 Gene structure and mRNA 86
3 2 DNA methylation in the factor IX gene
region 89
3 3 Chromosome mapping around the
factor IX gene 90
4 DNA polymorphisms and their
diagnostic use 91
4 1 Intragenic RFLPs at the factor IX
locus 91
4 2 Extragenic RFLPs around the
factor IX locus 93
4 3 Use of RFLP analysis in carrier
detection studies 93
5 Mutations in the factor IX gene causing
haemophilia B 95
5 1 Introduction 95
5 2 Deletions in the factor IX gene 95
5 3 Point mutations in the factor IX gene 98
5 4 Insertional inactivation of the
factor IX gene 107
5 5 Inversion in the factor IX gene 108
5 6 Haemophilia B in females 108
5 7 Somatic mosaicism 109
5 8 Direct detection of factor IX gene
lesions in diagnostic work 109
6 Expression of the factor IX gene 110
7 Gene therapy 110
4 Factor VII 112
1 Introduction 112
2 Physiology, structure, and function 112
2 1 Physiology and physical properties 112
2 2 Primary sequence 112
2 3 Secondary structure and domains 113
2 4 Post-translational modifications 114
2 5 Activation of factor VII 114
2 6 Role of factor VII in haemostasis 114
2 7 Structure-function correlation 115
2 8 Inhibition of factor Vila 115
3 Cloning and characterization of the
factor VII gene 116
4 DNA polymorphism in and around the
human factor VII gene 118
5 Expression of the factor VII gene 118
6 Chromosomal localization of the
factor VII gene 119
7 The factor VII regulator 119
8 Factor VII deficiency—clinical aspects,
variant molecules, and molecular
genetics 119
5 Factor X 122
1 Introduction 122
2 Physiology, structure, and function 122
2 1 Physiology 122
2 2 Primary sequence 123
2 3 Post-translational modification 124
2 4 Secondary structure and domains 124
2 5 Activation 124
2 6 The prothrombinase complex 125
2 7 Structure-function relationships 125
2 8 Substrates of factor Xa 125
2 9 Regulation of factor X activity 126
3 Cloning and characterization of the
factor X gene 126
4 DNA polymorphism in the factor X
gene 128
5 Chromosomal localization of the human
factor X gene 128
6 Expression of the factor X gene 129
7 Factor X deficiency 130
7 1 Clinical and protein studies 130
7 2 Molecular genetics 131
Contents xi
6 Prothrombin 134
1 Introduction 134
2 Physiology, structure, and function 135
2 1 Physiology 135
2 2 Primary structure 135
2 3 Post-translational modifications 135
2 4 Disulphide linkage and domains 135
2 5 Activation 137
2 6 Tertiary structure and function of
fragment 1 138
2 7 Tertiary structure of a-thrombin 138
2 8 Enzymatic function and substrates of
thrombin 138
2 9 Inhibitors of thrombin 140
3 Cloning and characterization of
prothrombin cDNA clones 140
4 Characterization of the prothrombin
gene 141
5 Expression of the prothrombin gene 144
6 Polymorphism of the
human prothrombin gene 144
7 Chromosomal localization of the
human prothrombin gene 144
8 Prothrombin deficiency 145
8 1 Hypoprothrombinaemia 145
8 2 Dysprothrombinaemia 147
8 3 Molecular genetics of prothrombin
deficiency 147
9 Molecular biology of the thrombin
receptor 148
7 Protein C and protein C
inhibitor 149
1 Introduction 149
2 Structure and function of protein C 149
2 1 Primary sequence and proteolytic
processing 149
2 2 Secondary structure and domains 150
2 3 Post-translational modifications 151
2 4 Activation of protein C 151
2 5 Function of activated protein C and
requirement for protein S 151
2 6 Protein C and fibrinolysis 152
3 Cloning and characterization of
protein C cDNA clones 152
4 Structure of the protein C gene 153
5 DNA polymorphisms in the protein C
gene 154
6 Expression of the protein C gene 155
7 Chromosomal localization of the
protein C gene 156
8 Protein C deficiency 156
8 1 Introduction and clinical studies 156
8 2 Molecular genetics of protein C
deficiency 157
9 Protein C inhibitor 161
9 1 Structure, function, and role in
coagulation 161
9 2 Molecular genetics 162
8 Protein S, C4b-binding protein,
and protein Z 164
1 Introduction 164
2 Structure, function, and physiology 164
2 1 Primary structure 164
2 2 Domains of protein S 164
2 3 Post-translational modification 165
2 4 Proteolytic cleavage of protein S 165
2 5 Physiological function and regulation of
protein S 165
3 cDNA cloning and characterization 166
4 Characterization of the protein S gene 168
5 Chromosomal localization of the
protein S gene 169
6 Expression of the protein S gene 170
7 Protein S deficiency 170
7 1 Laboratory and clinical features 170
7 2 Molecular genetic analysis of protein S
deficiency 171
8 C4b-binding protein 172
8 1 Physiology, structure, function, and
molecular biology 172
8 2 Clinical aspects 173
9 Protein Z 174
9 Thrombomodulin 175
1 Introduction 175
2 Physiology, structure, and function 175
2 1 Physiology, distribution, and physical
properties 175
xii Contents
2 2 Primary sequence, disulphide bonds, and
domains 176
2 3 Post-translational modification 176
2 4 Anticoagulant properties and structure-
function correlation 177
2 5 Regulation of thrombomodulin activity
and expression 178
3 Characterization of the thrombo
modulin gene 179
4 Expression of the thrombomodulin
gene 180
5 Chromosomal localization of the
human thrombomodulin gene 180
6 Clinical aspects 181
t
10 Factor V 182
1 Introduction 182
2 Physiology, structure, and function 182
2 1 Physiology and physical properties 182
2 2 Primary structure, domains, and
sequence homologies 183
2 3 Disulphide bonds and secondary
structure 183
2 4 Post-translational modification 185
2 5 Proteolytic processing, activation, and
inhibition 185
2 6 Gross structural studies 185
2 7 Interaction with phospholipid, platelets,
calcium ions, and factor Xa 186
2 8 Structure-function correlations 186
3 Isolation and characterization of cDNA
clones for factor V 187
4 Structure of the human factor V gene 188
5 Expression of the factor V gene 190
6 Polymorphism in the factor V gene 191
7 Chromosomal localization of the
factor V gene 191
8 Factor V deficiency 191
8 1 Clinical aspects 191
8 2 Molecular genetics 192
11 Tissue factor 194
1 Introduction 194
2 Physiology, structure, and function 194
2 1 Physiology and physical properties 194
2 2 Primary structure and cross-species
homology 195
2 3 Disulphide bonds and domains 196
2 4 Post-translational modification 196
2 5 Requirement for phospholipid 197
2 6 Kinetics of cofactor activity 197
2 7 Structure-function relationships 198
2 8 Tissue distribution and cellular
regulation 198
2 9 Regulation of activity 198
3 Cloning and characterization of the
tissue factor gene 199
4 DNA polymorphisms in and around
the tissue factor gene 201
5 Expression of the tissue factor gene 201
6 Chromosomal localization of the tissue
factor gene 202
7 Speculation on likely consequences of
mutation in the tissue factor gene 202
12 Tissue factor pathway
inhibitor 204
1 Introduction 204
2 Physiology, structure, and function 205
2 1 Physiology and physical properties 205
2 2 Primary sequence and homologies 206
2 3 Disulphide bonds 206
2 4 Post-translational modification 206
2 5 Inhibition of factor Xa 207
2 6 Inhibition of tissue factor/factorVIIa
complex 208
2 7 Complex formation with lipoproteins 208
2 8 The regulatory role of tissue factor
pathway inhibitor in coagulation 208
3 Molecular genetics 209
4 Clinical aspects 211
4 1 Animal model of tissue factor pathway
inhibitor deficiency 211
4 2 Tissue factor pathway inhibitor in
human disease 211
13 Factor XI 212
1 Introduction 212
2 Structure and function 212
2 1 Primary structure and domains 212
2 2 Activation 212
2 3 Post-translational modification 213
Contents Xlll
2 4 Function of factor XI 213
2 5 Inhibitors of factor XIa 213
3 Characterization of a factor XI cDNA
clone 214
4 Characterization of the factor XI gene 216
5 Chromosomal localization of the
factor XI gene 217
6 RFLPs in the factor XI gene 217
7 Factor XI deficiency 218
7 1 Clinical aspects 218
7 2 Molecular genetics 218
7 3 Site of synthesis of factor XI 220
14 Factor XII 221 I
1 Introduction 221
2; Structure and function 221
2 1 Molecular structure, proposed domains,
and biochemical properties 221
2 2 Post-translational modification 222
2 3 Interactions with other proteins 222
3 Characterization of the human factor XII
cDNA 224
4 Characterization of the human
factor XII gene 225
5 RFLPs in and around the factor XII
gene 227
6 Expression of the human factor XII
gene 228
7 Chromosomal localization of the
human factor X11 gene 228
8 Factor XII deficiency 229
8 1 Clinical features 229
8 2 Molecular genetics of Hageman trait 229
15 High-molecular-weight
kininogen 231
, 1 Introduction 231
2 Structure and function 231
2 1 Primary structure and domains 231
2 2 Release of bradykinin and activation of
high-molecular-weight kininogen 233
2 3 Interactions with pre-kallikrein and
factor XI 234
2 4 High-molecular-weight kininogen as a
cysteine protease inhibitor 234
2 5 Inactivation of high-molecular-weight
kininogen 234
3 Characterization of a human high-
molecular-weight kininogen cDNA 235
4 Characterization of the human
kininogen gene 236
5 Chromosomal localization of the
human kininogen gene 239
6 Expression of the human kininogen
gene 239
7 High-molecular-weight kininogen
deficiency 240
1 Clinical features 240
7 2 Molecular genetics 240
16 Plasma pre-kallikrein 242
1 Introduction 242
2 Structure and function of pre-kallikrein 242
2 1 Primary structure and domains 242
2 2 Activation 243
2 3 Post-translational modification 243
2 4 Function of kallikrein 243
2 5 Inhibitors of kallikrein 244
3 Molecular biology of plasma kallikrein 245
4 Pre-kallikrein deficiency 246
4 1 Clinical features 246
4 2 Molecular genetics 246
17 Fibrinogen 248
1 I ntroduction 248
2 Structure and function of fibrinogen 248
2 1 Primary sequence and covalent linkage
of the fibrinogen chains 248
2 2 Secondary structure of fibrinogen 250
2 3 Tertiary structure of fibrinogen 250
2 4 Conversion of fibrinogen to fibrin 250
2 5 Calcium and fibrinogen 251
2 6 Interaction of fibrin/fibrinogen with
factor XIII 252
2 7 Interaction with fibronectin 252
2 8 Interaction of fibrin with fibrinolytic
pathway 252
2 9 Interaction of fibrin/fibrinogen with
platelets 253
3 Cloning and characterization of the
a-fibrinogen gene 253
xiv Contents
4 Cloning and characterization of the
/^-fibrinogen gene 254
5 Cloning and characterization of the
-/-fibrinogen gene 256
6 DNA polymorphisms in the human
fibrinogen genes 259
7 Chromosomal localization and
organization of the fibrinogen genes 259
8 Regulation of fibrinogen biosynthesis 260
8 1 Factors affecting fibrinogen turnover 260
8 2 Regulation of the a- and ^-fibrinogen
genes 261
8 3 Regulation of the y-fibrinogen gene 262
9 Evolution of the fibrinogen proteins 264
10 In vitro expression of fibrinogen
cDNAs 265
11 The molecular basis of fibrinogen
disorders 265
11 1 Afibrinogenaemia 265
11 2 Dysfibrinogenaemia 266
11 3 Molecular genetics of fibrinogen
disorders 266
11 4 Molecular genetic approaches to the
study of plasma fibrinogen levels and
their relationship with ischaemic heart
disease 269
18 Factor XIII 271
1 Introduction 271
2 Physiology, structure, and function of
factor XIII subunits a and b 271
2 1 Physiology and physical properties of
factor XIII 271
2 2 Primary sequence of factor XIII
subunits 272
2 3 Post-translational modification 272
2 4 Disulphide bonds and domains 273
2 5 Activation of factor XIII 274
2 6 Enzymatic mechanism and substrates 275
3 Characterization of factor XIII cDNA
clones for subunit a 276
4 Characterization of a factor XIII cDNA
clones for subunit b 276
5 Characterization of the factor XIII
subunit a gene 277
6 Characterization of the factor XIII
subunit b gene 277
7 Polymorphisms around the human
factor XIII genes 278
7 1 DNA polymorphisms around the
human factor XIII subunit a gene 278
7 2 DNA polymorphisms around the
human factor XIII subunit b gene 279
8 Chromosomal localization of the
human factor XIII genes 279
8 1 The factor XIII a subunit gene 279
8 2 The factor XIII b subunit gene 281
9 Expression of the human factor XIII
genes 281
10 Factor XIII deficiency 281
10 1 Clinical aspects and laboratory studies 281
10 2 Molecular genetics of factor XIII
deficiency 282
19 Antithrombin III 284
1 Introduction 284
2 Structure and function of anti
thrombin III 284
2 1 Primary sequence, disulphide linkage,
and post-translational modifications 284
2 2 Tertiary structure 284
2 3 Mechanism of proteinase inhibition and
preferred targets of antithrombin III 285
2 4 Antithrombin III and heparin 286
3 Cloning and characterization of
antithrombin III cDNA 287
4 Structure of the human anti
thrombin III gene 288
4 1 Intron/exon structure 288
4 2 The 3 end of the human anti
thrombin III gene 288
5 DNA polymorphisms in and around
the antithrombin III gene 290
6 Chromosomal localization of the
antithrombin gene 291
7 Antithrombin III deficiency 291
7 1 Clinical studies 292
7 2 Deletions of the antithrombin III gene 293
7 3 RFLP tracking of antithrombin III
deficiency 293
7 4 Point mutations in the anti
thrombin III gene 294
8 Homologies with other proteins 298
Contents xv
9 In vivo and in vitro expression of the
antithrombin III gene 298
20 Heparin cofactor II 299
1 Introduction 299
2 Physiology, structure, and function 299
2 1 Physiology 299
2 2 Primary structure and
post-translational modifications 300
2 3 Structure-function relationships 300
3 Characterization of cDNA and genomic
clones for human heparin cofactor II 300
4 Polymorphism in the heparin
cofactor II gene 302
5 Chromosomal localization of the
human heparin cofactor II gene 302
6 Expression of the heparin cofactor
II gene 303
7 Heparin cofactor II deficiency 303
7 1 Clinical aspects 303
7 2 Molecular genetics of heparin
cofactor II deficiency 304
21 Cl inhibitor 305
1 Introduction 305
2 Structure and function 305
3 Characterization of the Cl inhibitor
gene 306
4 Expression of the Cl inhibitor gene 307
5 Angioneurotic oedema 308
5 1 Clinical aspects 308
5 2 Molecular genetics 308
22 Histidine-rich glycoprotein 310
1 Introduction 310
2 Physiology, structure, and function 310
3 Characterization of the human
histidine-rich glycoprotein gene 311
4 Chromosomal localization of the
histidine-rich glycoprotein gene 311
5 Clinical aspects 311
23 Placental anticoagulant
proteins 313
1 Introduction 313
2 The lipocortin family 313
3 Molecular genetics of placental
anticoagulant protein I 314
4 Molecular genetics of lipocortin VI
(calphobindin II) 315
5 Molecular genetics of vascular anti
coagulant protein ft 315
24 Plasminogen 316
1 Introduction 316
2 Physiology, structure, and function 316
2 1 Physiology 316
2 2 Primary structure 317
2 3 Disulphide bonds, domains and tertiary
structure 317
2 4 Post-translational modifications 317
2 5 Binding sites 317
2 6 Plasminogen activation 317
2 7 Substrates of plasmin 318
2 8 Inhibitors of plasmin 319
2 9 Protein polymorphisms 319
3 cDNA cloning and characterization 319
4 Characterization of the human
plasminogen gene 320
5 Polymorphism in the human
plasminogen gene 321
6 Chromosomal localization of the
plasminogen gene 322
7 Expression of the plasminogen gene 322
8 Plasminogen deficiency 323
8 1 Hypoplasminogenaemia and dysplas-
minogenaemia 323
8 2 Molecular genetics of plasminogen
deficiency 325
25 Tissue plasminogen activator 326
1 Introduction 326
2 Physiology, structure, and function 327
2 1 Physiology and physical properties 327
2 2 Primary sequence, post-translational
modification, and domains 327
2 3 Tertiary structure 327
XVI Contents
2 4 Structure-function assignments 327
3 Characterization of tissue plasminogen
activator cDNAs 329
4 Characterization of the human tissue
plasminogen activator gene 330
5 DNA polymorphism in and around the
human tissue plasminogen activator
gene 332
6 Expression of the tissue plasminogen
activator gene 333
6 1 Cellular expression studies 333
6 2 In vitro expression of artificial gene
constructs 335
7 Chromosomal localization of the human
tissue plasminogen activator gene 336
8 Defects of tissue plasminogen activator
synthesis or regulation 336
8 1 Clinical aspects 336
8 2 Molecular genetics 337
26 Plasminogen activator
inhibitor-1 338
1 Introduction 338
2 Physiology, structure, and function of
plasminogen activator inhibitor-1 338
2 1 Physiology 338
2 2 Primary sequence 339
2 3 Post-translational modification 341
2 4 Mechanism of action 341
2 5 Interaction with vitronectin 342
3 Characterization of human plasminogen
activator inhibitor-1 cDNA clones 342
4 Characterization of the human plas
minogen activator inhibitor-1 gene 344
5 Polymorphism in the human plas
minogen activator inhibitor-1 gene 347
6 Chromosomal localization of the human
plasminogen activator inhibitor-1 gene 348
7 Expression of the plasminogen activator
inhibitor-1 gene 348
8 Plasminogen activator inhibitor-1 and
cardiovascular disease 350
8 1 Plasma plasminogen activator
inhibitor-1 levels in disease 350
8 2 Molecular genetic analysis of the
plasminogen activator inhibitor-1 gene
in disease 351
27 Plasminogen activator
inhibitor-2 352
1 Introduction 352
2 Physiology, structure, and function 352
3 Characterization of plasminogen
activator inhibitor-2 cDNA clones 354
4 Characterization of the human plas
minogen activator inhibitor-2 gene 355
5 Polymorphism in the human plas
minogen activator inhibitor-2 gene 356
6 Chromosomal localization of the human
plasminogen activator inhibitor-2 gene 357
7 Expression of the plasminogen activator
inhibitor-2 gene 357
8 Speculation on disorders of plas
minogen activator inhibitor-2 358
28 Urokinase and its receptor 359
1 Introduction 359
2 Physiology, structure, and function 359
2 1 Physiology and physical properties 359
2 2 Primary sequence and domains 359
2 3 Enzymatic activity 360
2 4 Regulation of activity and receptor
interaction 361
3 Molecular genetics of urokinase 361
4 The urokinase receptor 363
5 Clinical aspects 363
29 a2-Antiplasmin 365
1 Introduction 365
2 Physiology, structure, and function 365
2 1 Physiology and physical properties 365
2 2 Primary structure 365
2 3 Disulphide bonds 366
2 4 Post-translational modification 367
2 5 Tertiary structure 367
2 6 Reaction with plasmin 367
2 7 Interference with adsorption of
plasminogen to fibrin 367
Contents xvii
2 8 Cross-linking to fibrin 368
3 Characterization of dj-antiplasmin
cDNAs 368
4 Characterization of the human a2-
antiplasmin gene 369
5 Expression of the a2-antiplasmin gene 371
6 a2-Antiplasmin deficiency 371
6 1 Clinical aspects 371
6 2 Molecular genetics 371
30 The von Willebrand factor
and von Willebrand disease 374
1 Introduction 374
2 Structure and function of von
8 6 Altered genetic expression in von
Willebrand disease 400
9 In vitro expression of the von
Willebrand factor gene and clinical
trials of recombinant von Willebrand
factor 401
31 Platelet membrane proteins 402
1 Introduction 402
1 1 Overview of platelet membrane
glycoproteins, their structure and
function 402
1 2 Molecular genetic analysis of platelet
membrane proteins 403
2 The glycoprotein Ia/IIa complex 403
Willebrand factor 374 2 1 Characterization of the human
2 1 Primary sequence
2 2 cDNA pre-pro-sequence
glycoprotein la gene
2 2 Deficiency of platelet glycoprotein la
2 3 Internal homologies 375 3 The glycoprotein Ib/IX complex 405
2 4 Synthesis, processing, storage, and 3 1 Characterization of the human
secretion 376 glycoprotein lb a chain gene 406
2 5 Ultrastructure 378 3 2 Characterization of the human
2 6 Functional domains 378 glycoprotein lb /? chain gene 407
2 7 Von Willebrand factor and platelet 3 3 Characterization of the human
attachment to subendothelium 379 glycoprotein IX cDNA 408
2 8 Von Willebrand factor and platelet 3 4 Bernard-Soulier syndrome 408
spreading 381 3 5 Pseudo-von Willebrand disease 410
2 9 Von Willebrand factor and factor VII i 382 4 The glycoprotein 11 b/111 a complex 410
3 Characterization of von Willebrand
factor cDN A clones 382
4 Expression of von Willebrand factor
mRNA 384
5 Structure of the von Willebrand factor
gene 385
6 RFLPs in and around the von
Willebrand factor gene 389
7 Chromosomal localization of the von
Willebrand factor gene and pseudogene 389
8 Von Willebrand disease 391
8 1 Prevalence and subtypes 391
8 2 Deletions of the von Willebrand factor
gene 394
8 3 RFLP tracking of mutations in von
Willebrand disease 396
8 4 Point mutation in the von Willebrand
factor gene 397
8 5 Insertion in the von Willebrand factor
gene 400
4 1 Characterization of the human
glycoprotein lib gene 411
4 2 Characterization of the human
glycoprotein Ilia gene 415
4 3 Glanzmann thrombasthenia 418
32 Platelet-secreted proteins 421
1 Platelet factor 4 421
1 1 Introduction 421
1 2 Structure and function 421
1 3 Molecular genetics 421
1 4 Clinical aspects 423
2 ^-Thromboglobulin 423
2 1 Introduction, structure, and function 423
2 2 Molecular genetics 423
2 3 Clinical aspects 424
33 Thrombospondin 425
1 Introduction 425
xviii Contents
2 Structure and putative functions 425
2 1 Physical properties, gross structure, and
molecular interactions 425
2 2 Sites of synthesis and deposition 425
2 3 Primary sequence, domains, and
homologies 425
2 4 Thrombospondin and platelets 426
2 5 Thrombospondin and haemostasis 427
2 6 Thrombospondin and atherosclerosis 427
2 7 Thrombospondin and cancer 427
3 Characterization of thrombospondin
cDNA clones 427
4 Characterization of the human
thrombospondin I gene 428
5 Polymorphism in the thrombo
spondin I gene 430
6 Chromosomal localization of the
human thrombospondin genes 430
7 Expression of the human thrombo
spondin genes 431
8 Speculation on thrombospondin
disorders 432
8 1 Clinical aspects 432
8 2 Molecular genetics of thrombospondin
disorders 432
5 3 Factor IX 437
5 4 Factor X 438
5 5 Factor VII 438
5 6 Factor II (prothrombin) 438
5 7 Factors XI and XII 438
5 8 Factor V 439
5 9 Fibrinogen 439
5 10 Factor XIII (fibrin-stabilizing factor) 439
6 Measurement of coagulation inhibitors 440
6 1 Antithrombin III 440
6 2 Protein C 440
6 3 Protein S 441
7 Methods in fibrinolysis 441
7 1 Euglobulin clot lysis time 441
7 2 Plasminogen 441
7 3 Tissue plasminogen activator 442
7 4 Plasminogen activator inhibitor 442
7 5 a2-Antiplasmin 442
Appendix 2 The methodology of
mutation detection 443
1 The polymerase chain reaction (PCR) 443
2 PCR-based methods of mutation
detection and analysis 444
Appendix 1 Phenotype analysis 433
1 Screening tests 433
2 Functional coagulation assays 433
3 Antigenic coagulation assays 435
4 Sample collection 435
5 Measurement of specific coagulation
factors 435
5 1 Factor VIII and von Willebrand
factor 435
5 2 The vitamin K-dependent coagulation
factors 437
Appendix 3 Epidemiology of
coagulation disorders
1 Congenital bleeding disorders
2 Acquired bleeding disorders
3 Thrombotic disorders
4 Conclusions
References
Index
|
| any_adam_object | 1 |
| author | Tuddenham, Edward G. Cooper, David N. 1957- |
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| dewey-search | 616.1/57042 |
| dewey-sort | 3616.1 557042 |
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| discipline | Medizin |
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| id | DE-604.BV009301675 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T17:34:37Z |
| institution | BVB |
| isbn | 0192616617 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-006190131 |
| oclc_num | 27811795 |
| open_access_boolean | |
| owner | DE-29 DE-355 DE-BY-UBR |
| owner_facet | DE-29 DE-355 DE-BY-UBR |
| physical | XVIII, 585 S. graph. Darst. |
| publishDate | 1994 |
| publishDateSearch | 1994 |
| publishDateSort | 1994 |
| publisher | Oxford Univ. Press |
| record_format | marc |
| series | Oxford monographs on medical genetics |
| series2 | Oxford monographs on medical genetics Oxford medical publications |
| spelling | Tuddenham, Edward G. Verfasser aut The molecular genetics of haemostasis and its inherited disorders Edward G. D. Tuddenham ; David N. Cooper Oxford u.a. Oxford Univ. Press 1994 XVIII, 585 S. graph. Darst. txt rdacontent n rdamedia nc rdacarrier Oxford monographs on medical genetics 25 Oxford medical publications Bloedstolling gtt Coagulation sanguine - Génétique Erfelijke ziekten gtt Facteurs de la coagulation sanguine - Génétique Stollingsafwijkingen gtt Troubles de l'hémostase et de la coagulation - Génétique Blood Coagulation Disorders genetics Blood Coagulation Factors genetics Blood Coagulation genetics Blood coagulation disorders Genetic aspects Koagulopathie (DE-588)4007276-9 gnd rswk-swf Blutgerinnung (DE-588)4007275-7 gnd rswk-swf Molekulargenetik (DE-588)4039987-4 gnd rswk-swf Vererbung (DE-588)4187668-4 gnd rswk-swf Koagulopathie (DE-588)4007276-9 s Vererbung (DE-588)4187668-4 s DE-604 Blutgerinnung (DE-588)4007275-7 s Molekulargenetik (DE-588)4039987-4 s Cooper, David N. 1957- Verfasser (DE-588)129514225 aut Oxford monographs on medical genetics 25 (DE-604)BV000008339 25 HEBIS Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=006190131&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Tuddenham, Edward G. Cooper, David N. 1957- The molecular genetics of haemostasis and its inherited disorders Oxford monographs on medical genetics Bloedstolling gtt Coagulation sanguine - Génétique Erfelijke ziekten gtt Facteurs de la coagulation sanguine - Génétique Stollingsafwijkingen gtt Troubles de l'hémostase et de la coagulation - Génétique Blood Coagulation Disorders genetics Blood Coagulation Factors genetics Blood Coagulation genetics Blood coagulation disorders Genetic aspects Koagulopathie (DE-588)4007276-9 gnd Blutgerinnung (DE-588)4007275-7 gnd Molekulargenetik (DE-588)4039987-4 gnd Vererbung (DE-588)4187668-4 gnd |
| subject_GND | (DE-588)4007276-9 (DE-588)4007275-7 (DE-588)4039987-4 (DE-588)4187668-4 |
| title | The molecular genetics of haemostasis and its inherited disorders |
| title_auth | The molecular genetics of haemostasis and its inherited disorders |
| title_exact_search | The molecular genetics of haemostasis and its inherited disorders |
| title_full | The molecular genetics of haemostasis and its inherited disorders Edward G. D. Tuddenham ; David N. Cooper |
| title_fullStr | The molecular genetics of haemostasis and its inherited disorders Edward G. D. Tuddenham ; David N. Cooper |
| title_full_unstemmed | The molecular genetics of haemostasis and its inherited disorders Edward G. D. Tuddenham ; David N. Cooper |
| title_short | The molecular genetics of haemostasis and its inherited disorders |
| title_sort | the molecular genetics of haemostasis and its inherited disorders |
| topic | Bloedstolling gtt Coagulation sanguine - Génétique Erfelijke ziekten gtt Facteurs de la coagulation sanguine - Génétique Stollingsafwijkingen gtt Troubles de l'hémostase et de la coagulation - Génétique Blood Coagulation Disorders genetics Blood Coagulation Factors genetics Blood Coagulation genetics Blood coagulation disorders Genetic aspects Koagulopathie (DE-588)4007276-9 gnd Blutgerinnung (DE-588)4007275-7 gnd Molekulargenetik (DE-588)4039987-4 gnd Vererbung (DE-588)4187668-4 gnd |
| topic_facet | Bloedstolling Coagulation sanguine - Génétique Erfelijke ziekten Facteurs de la coagulation sanguine - Génétique Stollingsafwijkingen Troubles de l'hémostase et de la coagulation - Génétique Blood Coagulation Disorders genetics Blood Coagulation Factors genetics Blood Coagulation genetics Blood coagulation disorders Genetic aspects Koagulopathie Blutgerinnung Molekulargenetik Vererbung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=006190131&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV000008339 |
| work_keys_str_mv | AT tuddenhamedwardg themoleculargeneticsofhaemostasisanditsinheriteddisorders AT cooperdavidn themoleculargeneticsofhaemostasisanditsinheriteddisorders |