Molecular Diagnostics For the Clinical Laboratorian için kapak resmi
Başlık:
Molecular Diagnostics For the Clinical Laboratorian
Dil:
English
ISBN:
9781592599288
Yayın Bilgileri:
Totowa, NJ : Humana Press, 2005.
Fiziksel Tanımlama:
XVIII, 567 p. online resource.
İçerik:
An Historical Perspective on the Clinical Diagnostic Laboratory -- Basic Molecular Biology -- An Overview of Nucleic Acid Chemistry, Structure, and Function -- Extraction of Nucleic Acids -- Nucleic Acid Blotting Techniques -- The Polymerase Chain Reaction -- Bioinformatics -- Molecular Diagnostic Technologies -- PCR-Based Methods for Mutation Detection -- Alternative Methods for Amplified Nucleic Acid Testing -- Electrophoretic Methods for Mutation Detection and DNA Sequencing -- Single-Nucleotide Polymorphisms -- Microarray Approaches to Gene Expression Analysis -- Methods for Analysis of DNA Methylation -- Other Clinical Diagnostic Technologies -- Flow Cytometry -- Medical Cytogenetics -- Fluorescence In Situ Hybridization -- Immunohistochemistry -- Laser Capture Microdissection -- Quality Assurance in the Molecular Diagnostics Laboratory -- Framework for Quality Assurance in Molecular Diagnostics -- Verification of Molecular Assays -- Standards and Standardization of Molecular Diagnostics -- Laboratory-Developed Tests in Molecular Diagnostics -- Applications of Molecular Diagnostics for Genetic Diseases -- An Overview of Molecular Genetics -- Genetic Basis of Neurologic and Neuromuscular Diseases -- Molecular Mechanisms of Endocrine Disorders -- Molecular Pathogenesis of Cardiovascular Disease -- Molecular Diagnostics in Coagulation -- Cystic Fibrosis -- Prenatal Genotyping for Identification of Fetuses at Risk for Immune Cytopenic Disorders -- Personalized Medicine -- Applications of Molecular Diagnostics for Human Cancers -- Molecular Pathogenesis of Human Cancer -- Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer -- Molecular Genetic Applications to the Diagnosis of Lymphoma -- Molecular Genetic Abnormalities in Acute and Chronic Leukemias -- Applications of Molecular Diagnostics for Infectious Diseases -- Molecular Testing for Chlamydia trachomatis and Neisseria gonorrhoeae -- Human Papillomavirus -- Molecular Diagnostics for HIV-1 -- Hepatitis C -- Cytomegalovirus -- Applications of Molecular Diagnostics for Identity-Based Testing -- HLA Typing Using Molecular Methods -- Molecular Analysis for Forensic Casework and Parentage Testing -- Molecular Assessment of Bone Marrow Transplant Engraftment -- Use of DNA-Based Identity Testing for Specimen Identification -- Issues for the Clinical Molecular Pathology Laboratory -- Genetic Counseling Considerations in Molecular Diagnosis -- Ethical, Social, and Legal Issues Related to Molecular Genetic Testing.
Özet:
Taking advantage of the many major advances that have occurred since their groundbreaking first edition was published, William B. Coleman and Gregory J. Tsongalis have updated and expanded their highly praised tutorial guide to molecular diagnostic techniques to include not only improved traditional methods, but also totally new molecular technologies, 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 are complementary to molecular diagnostic methodologies, and also discuss genetic counseling and the ethical and social issues involved with nucleic acid testing. Authoritative and state-of-the-art, Molecular Diagnostics: For the Clinical Laboratorian, 2nd Edition is the essential textbook of choice for anyone working in molecular diagnostics and who wants to remain current with this rapidly changing field.

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Özet

Özet

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. A value-added compact disk containing a companion e-book version of the book, is included for downloading and use in the reader's PC or PDA.


İçindekiler

Robert E. MooreWilliam B. ColemanPaul N. Bogner and Anthony A. KilleenTerry Amiss and Sharon Collins PresnellWilliam B. Coleman and Gregory J. TsongalisSharon L. RickettsIan M. Frayling and Emma Monk and Rachel ButlerDeborah A. Payne and Laurie E. SowerW. Edward Highsmith and Jr.Ulrich Broeckel and Martin J. HessnerDavid Neil Hayes and Matthew MeyersonAlexander DobrovicJoseph A. DiGiuseppeMartha B. KeagleSuneel D. Mundle and Robert J. KoskaJohn Hunt and Larissa Davydova and Richard W. Cartun and Maria BaiulescuC. Robert Bagnell and Jr.Marlene Sabbath-Solitare and Selwyn J. Baptist and Teresita Cuyegkeng RedondoBrent L. SeatonJohn P. Jakupciak and Catherine D. O'ConnellAndrea Ferreira-Gonzalez and Carleton T. GarrettElaine Weidenhammer and Gregory J. TsongalisNarasimhan Nagan and Christopher J. Klein and D. Brian Dawson and Myra J. Wick and Stephen N. ThibodeauAmy Potter and John A. Phillips IIIAlan H. B. WuEnrique BallesterosEugene H. Lewis III and Myra J. Lewis and Jean A. Amos and Gregory J. TsongalisMartin J. Hessner and Brian R. CurtisKaren McCulloughWilliam B. Coleman and Gregory J. TsongalisIan M. Frayling and Lisa Happerfield and Christopher Mattocks and Kim Oakhill and Mark J. ArendsWilliam N. Rezuke and Jr. and Gregory J. TsongalisPei Lin and L. Jeffrey MedeirosAlexandra ValsamakisTheresa M. Voytek and Gregory J. TsongalisAngela M. Caliendo and Charles E. HillD. Robert DufourAngela M. Caliendo and Nell S. LurainJohn L. SchmitzTracey Dawson CruzJessica K. BookerAndrew Ricci Jr. and Gregory J. TsongalisMyra I. RocheJennifer L. Herbst and Jon F. Merz
Dedicationp. v
Forewordp. vii
Prefacep. ix
Color Platesp. xv
Contributorsp. xvii
Value Added eBook Instructionsp. xix
Part I Introduction
1 An Historical Perspective on the Clinical Diagnostic Laboratoryp. 3
Part II Basic Molecular Biology
2 An Overview of Nucleic Acid Chemistry, Structure, and Function: The Foundations of Molecular Biologyp. 13
3 Extraction of Nucleic Acidsp. 25
4 Nucleic Acid Blotting Techniques: Theory and Practicep. 31
5 The Polymerase Chain Reactionp. 47
6 Bioinformatics: Computer-Based Approaches to Genetic Analysisp. 57
Part III Molecular Diagnostic Technologies
7 PCR-Based Methods for Mutation Detectionp. 65
8 Alternative Methods for Amplified Nucleic Acid Testingp. 75
9 Electrophoretic Methods for Mutation Detection and DNA Sequencingp. 85
10 Single-Nucleotide Polymorphisms: Testing DNA Variation for Disease Associationp. 111
11 Microarray Approaches to Gene Expression Analysisp. 121
12 Methods for Analysis of DNA Methylationp. 149
Part IV Other Clinical Diagnostic Technologies
13 Flow Cytometryp. 163
14 Medical Cytogeneticsp. 173
15 Fluorescence In Situ Hybridization: A Major Milestone in Luminous Cytogeneticsp. 189
16 Immunohistochemistryp. 203
17 Laser Capture Microdissectionp. 219
Part V Quality Assurance in the Molecular Diagnostics Laboratory
18 Framework for Quality Assurance in Molecular Diagnosticsp. 227
19 Verification of Molecular Assaysp. 237
20 Standards and Standardization of Molecular Diagnosticsp. 243
21 Laboratory-Developed Tests in Molecular Diagnosticsp. 247
Part VI Applications of Molecular Diagnostics for Genetic Diseases
22 An Overview of Molecular Geneticsp. 259
23 Genetic Basis of Neurologic and Neuromuscular Diseasesp. 267
24 Molecular Mechanisms of Endocrine Disordersp. 281
25 Molecular Pathogenesis of Cardiovascular Diseasep. 295
26 Molecular Diagnostics in Coagulationp. 311
27 Cystic Fibrosisp. 321
28 Prenatal Genotyping for Identification of Fetuses at Risk for Immune Cytopenic Disordersp. 329
29 Personalized Medicinep. 341
Part VII Applications of Molecular Diagnostics for Human Cancers
30 Molecular Pathogenesis of Human Cancerp. 349
31 Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancerp. 375
32 Molecular Genetic Applications to the Diagnosis of Lymphomap. 393
33 Molecular Genetic Abnormalities in Acute and Chronic Leukemiasp. 415
Part VIII Applications of Molecular Diagnostics for Infectious Diseases
34 Molecular Testing for Chlamydia trachomatis and Neisseria gonorrhoeaep. 437
35 Human Papillomavirusp. 447
36 Molecular Diagnosis for HIV-1p. 453
37 Hepatitis Cp. 461
38 Cytomegalovirusp. 473
Part IX Applications of Molecular Diagnostics for Identity-Based Testing
39 HLA Typing Using Molecular Methodsp. 485
40 Molecular Analysis for Forensic Casework and Parentage Testingp. 495
41 Molecular Assessment of Bone Marrow Transplant Engraftmentp. 511
42 Use of DNA-Based Identity Testing for Specimen Identificationp. 517
Part X Issues for the Clinical Molecular Pathology Laboratory
43 Genetic Counseling Considerations in Molecular Diagnosisp. 525
44 Ethical, Social, and Legal Issues Related to Molecular Genetic Testingp. 545
Indexp. 555