简介
Summary:
Publisher Summary 1
In addition to complete revision of the existing material, several new chapters have been added to the second edition on bioinformatics; microarrays; methylation assays; FISH; laser capture microdissection; quality assurance; chimerism studies for bone marrow transplantation; and the ethical, legal, and social issues of genetic counseling. The text is designed as a tutorial that can be used by residents, physicians, technicians, trainees in pathology, and others who need to understand the field. The initial chapters are devoted to aspects of basic molecular biology, followed by diagnostic technologies of all kinds. The chapters are illustrated and include full bibliographies. The CD-ROM contains a digital version of the text. The contributors are affiliated with universities and private laboratories in the US, the UK, and Australia. Coleman is with the U. of North Carolina School of Medicine; Tsongalis is at Dartmouth Medical School's department of pathology in New Hampshire. Annotation 漏2005 Book News, Inc., Portland, OR (booknews.com)
Publisher Summary 2
This updated and expanded tutorial guide to molecular diagnostic techniques takes advantage of many new molecular technologies to include both improved traditional methods and totally new methods, some not yet in routine use. The authors offer cutting-edge molecular diagnostics for genetic disease, human cancers, infectious diseases, and identity testing, as well as new insights into the question of quality assurance in the molecular diagnostics laboratory. Additional chapters address other technologies found in the clinical laboratory that complementary to molecular diagnostic technologies and discuss genetic counseling and the ethical and social issues involved with nucleic acid testing.
目录
Dedication p. v
Foreword p. vii
Preface p. ix
Color Plates p. xv
Contributors p. xvii
Value Added eBook Instructions p. xix
Part I Introduction
1 An Historical Perspective on the Clinical Diagnostic Laboratory Robert E. Moore p. 3
Part II Basic Molecular Biology
2 An Overview of Nucleic Acid Chemistry, Structure, and Function: The Foundations of Molecular Biology William B. Coleman p. 13
3 Extraction of Nucleic Acids Paul N. Bogner and Anthony A. Killeen p. 25
4 Nucleic Acid Blotting Techniques: Theory and Practice Terry Amiss and Sharon Collins Presnell p. 31
5 The Polymerase Chain Reaction William B. Coleman and Gregory J. Tsongalis p. 47
6 Bioinformatics: Computer-Based Approaches to Genetic Analysis Sharon L. Ricketts p. 57
Part III Molecular Diagnostic Technologies
7 PCR-Based Methods for Mutation Detection Ian M. Frayling and Emma Monk and Rachel Butler p. 65
8 Alternative Methods for Amplified Nucleic Acid Testing Deborah A. Payne and Laurie E. Sower p. 75
9 Electrophoretic Methods for Mutation Detection and DNA Sequencing W. Edward Highsmith and Jr. p. 85
10 Single-Nucleotide Polymorphisms: Testing DNA Variation for Disease Association Ulrich Broeckel and Martin J. Hessner p. 111
11 Microarray Approaches to Gene Expression Analysis David Neil Hayes and Matthew Meyerson p. 121
12 Methods for Analysis of DNA Methylation Alexander Dobrovic p. 149
Part IV Other Clinical Diagnostic Technologies
13 Flow Cytometry Joseph A. DiGiuseppe p. 163
14 Medical Cytogenetics Martha B. Keagle p. 173
15 Fluorescence In Situ Hybridization: A Major Milestone in Luminous Cytogenetics Suneel D. Mundle and Robert J. Koska p. 189
16 Immunohistochemistry John Hunt and Larissa Davydova and Richard W. Cartun and Maria Baiulescu p. 203
17 Laser Capture Microdissection C. Robert Bagnell and Jr. p. 219
Part V Quality Assurance in the Molecular Diagnostics Laboratory
18 Framework for Quality Assurance in Molecular Diagnostics Marlene Sabbath-Solitare and Selwyn J. Baptist and Teresita Cuyegkeng Redondo p. 227
19 Verification of Molecular Assays Brent L. Seaton p. 237
20 Standards and Standardization of Molecular Diagnostics John P. Jakupciak and Catherine D. O'Connell p. 243
21 Laboratory-Developed Tests in Molecular Diagnostics Andrea Ferreira-Gonzalez and Carleton T. Garrett p. 247
Part VI Applications of Molecular Diagnostics for Genetic Diseases
22 An Overview of Molecular Genetics Elaine Weidenhammer and Gregory J. Tsongalis p. 259
23 Genetic Basis of Neurologic and Neuromuscular Diseases Narasimhan Nagan and Christopher J. Klein and D. Brian Dawson and Myra J. Wick and Stephen N. Thibodeau p. 267
24 Molecular Mechanisms of Endocrine Disorders Amy Potter and John A. Phillips III p. 281
25 Molecular Pathogenesis of Cardiovascular Disease Alan H. B. Wu p. 295
26 Molecular Diagnostics in Coagulation Enrique Ballesteros p. 311
27 Cystic Fibrosis Eugene H. Lewis III and Myra J. Lewis and Jean A. Amos and Gregory J. Tsongalis p. 321
28 Prenatal Genotyping for Identification of Fetuses at Risk for Immune Cytopenic Disorders Martin J. Hessner and Brian R. Curtis p. 329
29 Personalized Medicine Karen McCullough p. 341
Part VII Applications of Molecular Diagnostics for Human Cancers
30 Molecular Pathogenesis of Human Cancer William B. Coleman and Gregory J. Tsongalis p. 349
31 Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer Ian M. Frayling and Lisa Happerfield and Christopher Mattocks and Kim Oakhill and Mark J. Arends p. 375
32 Molecular Genetic Applications to the Diagnosis of Lymphoma William N. Rezuke and Jr. and Gregory J. Tsongalis p. 393
33 Molecular Genetic Abnormalities in Acute and Chronic Leukemias Pei Lin and L. Jeffrey Medeiros p. 415
Part VIII Applications of Molecular Diagnostics for Infectious Diseases
34 Molecular Testing for Chlamydia trachomatis and Neisseria gonorrhoeae Alexandra Valsamakis p. 437
35 Human Papillomavirus Theresa M. Voytek and Gregory J. Tsongalis p. 447
36 Molecular Diagnosis for HIV-1 Angela M. Caliendo and Charles E. Hill p. 453
37 Hepatitis C D. Robert Dufour p. 461
38 Cytomegalovirus Angela M. Caliendo and Nell S. Lurain p. 473
Part IX Applications of Molecular Diagnostics for Identity-Based Testing
39 HLA Typing Using Molecular Methods John L. Schmitz p. 485
40 Molecular Analysis for Forensic Casework and Parentage Testing Tracey Dawson Cruz p. 495
41 Molecular Assessment of Bone Marrow Transplant Engraftment Jessica K. Booker p. 511
42 Use of DNA-Based Identity Testing for Specimen Identification Andrew Ricci Jr. and Gregory J. Tsongalis p. 517
Part X Issues for the Clinical Molecular Pathology Laboratory
43 Genetic Counseling Considerations in Molecular Diagnosis Myra I. Roche p. 525
44 Ethical, Social, and Legal Issues Related to Molecular Genetic Testing Jennifer L. Herbst and Jon F. Merz p. 545
Index p. 555
Foreword p. vii
Preface p. ix
Color Plates p. xv
Contributors p. xvii
Value Added eBook Instructions p. xix
Part I Introduction
1 An Historical Perspective on the Clinical Diagnostic Laboratory Robert E. Moore p. 3
Part II Basic Molecular Biology
2 An Overview of Nucleic Acid Chemistry, Structure, and Function: The Foundations of Molecular Biology William B. Coleman p. 13
3 Extraction of Nucleic Acids Paul N. Bogner and Anthony A. Killeen p. 25
4 Nucleic Acid Blotting Techniques: Theory and Practice Terry Amiss and Sharon Collins Presnell p. 31
5 The Polymerase Chain Reaction William B. Coleman and Gregory J. Tsongalis p. 47
6 Bioinformatics: Computer-Based Approaches to Genetic Analysis Sharon L. Ricketts p. 57
Part III Molecular Diagnostic Technologies
7 PCR-Based Methods for Mutation Detection Ian M. Frayling and Emma Monk and Rachel Butler p. 65
8 Alternative Methods for Amplified Nucleic Acid Testing Deborah A. Payne and Laurie E. Sower p. 75
9 Electrophoretic Methods for Mutation Detection and DNA Sequencing W. Edward Highsmith and Jr. p. 85
10 Single-Nucleotide Polymorphisms: Testing DNA Variation for Disease Association Ulrich Broeckel and Martin J. Hessner p. 111
11 Microarray Approaches to Gene Expression Analysis David Neil Hayes and Matthew Meyerson p. 121
12 Methods for Analysis of DNA Methylation Alexander Dobrovic p. 149
Part IV Other Clinical Diagnostic Technologies
13 Flow Cytometry Joseph A. DiGiuseppe p. 163
14 Medical Cytogenetics Martha B. Keagle p. 173
15 Fluorescence In Situ Hybridization: A Major Milestone in Luminous Cytogenetics Suneel D. Mundle and Robert J. Koska p. 189
16 Immunohistochemistry John Hunt and Larissa Davydova and Richard W. Cartun and Maria Baiulescu p. 203
17 Laser Capture Microdissection C. Robert Bagnell and Jr. p. 219
Part V Quality Assurance in the Molecular Diagnostics Laboratory
18 Framework for Quality Assurance in Molecular Diagnostics Marlene Sabbath-Solitare and Selwyn J. Baptist and Teresita Cuyegkeng Redondo p. 227
19 Verification of Molecular Assays Brent L. Seaton p. 237
20 Standards and Standardization of Molecular Diagnostics John P. Jakupciak and Catherine D. O'Connell p. 243
21 Laboratory-Developed Tests in Molecular Diagnostics Andrea Ferreira-Gonzalez and Carleton T. Garrett p. 247
Part VI Applications of Molecular Diagnostics for Genetic Diseases
22 An Overview of Molecular Genetics Elaine Weidenhammer and Gregory J. Tsongalis p. 259
23 Genetic Basis of Neurologic and Neuromuscular Diseases Narasimhan Nagan and Christopher J. Klein and D. Brian Dawson and Myra J. Wick and Stephen N. Thibodeau p. 267
24 Molecular Mechanisms of Endocrine Disorders Amy Potter and John A. Phillips III p. 281
25 Molecular Pathogenesis of Cardiovascular Disease Alan H. B. Wu p. 295
26 Molecular Diagnostics in Coagulation Enrique Ballesteros p. 311
27 Cystic Fibrosis Eugene H. Lewis III and Myra J. Lewis and Jean A. Amos and Gregory J. Tsongalis p. 321
28 Prenatal Genotyping for Identification of Fetuses at Risk for Immune Cytopenic Disorders Martin J. Hessner and Brian R. Curtis p. 329
29 Personalized Medicine Karen McCullough p. 341
Part VII Applications of Molecular Diagnostics for Human Cancers
30 Molecular Pathogenesis of Human Cancer William B. Coleman and Gregory J. Tsongalis p. 349
31 Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer Ian M. Frayling and Lisa Happerfield and Christopher Mattocks and Kim Oakhill and Mark J. Arends p. 375
32 Molecular Genetic Applications to the Diagnosis of Lymphoma William N. Rezuke and Jr. and Gregory J. Tsongalis p. 393
33 Molecular Genetic Abnormalities in Acute and Chronic Leukemias Pei Lin and L. Jeffrey Medeiros p. 415
Part VIII Applications of Molecular Diagnostics for Infectious Diseases
34 Molecular Testing for Chlamydia trachomatis and Neisseria gonorrhoeae Alexandra Valsamakis p. 437
35 Human Papillomavirus Theresa M. Voytek and Gregory J. Tsongalis p. 447
36 Molecular Diagnosis for HIV-1 Angela M. Caliendo and Charles E. Hill p. 453
37 Hepatitis C D. Robert Dufour p. 461
38 Cytomegalovirus Angela M. Caliendo and Nell S. Lurain p. 473
Part IX Applications of Molecular Diagnostics for Identity-Based Testing
39 HLA Typing Using Molecular Methods John L. Schmitz p. 485
40 Molecular Analysis for Forensic Casework and Parentage Testing Tracey Dawson Cruz p. 495
41 Molecular Assessment of Bone Marrow Transplant Engraftment Jessica K. Booker p. 511
42 Use of DNA-Based Identity Testing for Specimen Identification Andrew Ricci Jr. and Gregory J. Tsongalis p. 517
Part X Issues for the Clinical Molecular Pathology Laboratory
43 Genetic Counseling Considerations in Molecular Diagnosis Myra I. Roche p. 525
44 Ethical, Social, and Legal Issues Related to Molecular Genetic Testing Jennifer L. Herbst and Jon F. Merz p. 545
Index p. 555
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