Molecular diagnostics [[electronic resource] /] / edited by George Patrinos, Wilhelm Ansorge

• Record Nr.: UNINA9910791285803321
• Pubbl/distr/stampa: London, : Academic, 2010
• ISBN: 1-282-73741-4; 9786612737411; 0-08-092318-6
• Edizione: [2nd ed.]
• Descrizione fisica: 1 online resource (617 p.)
• Altri autori (Persone): PatrinosGeorge P; AnsorgeWilhelm <1944->
• Disciplina: 616.0756
• Soggetti: Molecular diagnosis; Genetic screening
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references and index.
• Nota di contenuto: Front Cover; Molecular Diagnostics; Copyright Page; Contents; List of Contributors; Preface - First Edition; Preface - Second Edition; Foreword - First Edition; Chapter 1. Molecular Diagnostics: Past, Present, and Future; 1.1 INTRODUCTION; 1.2 HISTORY OF MOLECULAR DIAGNOSTICS: INVENTING THE WHEEL; 1.3 THE PCR REVOLUTION: GETTING MORE OUT OF LESS; 1.4 MOLECULAR DIAGNOSTICS IN THE POST-GENOMIC ERA; 1.5 FUTURE PERSPECTIVES: WHAT LIES BEYOND; 1.6 CONCLUSIONS; REFERENCES; Section I. Molecular Diagnostic Technology; Chapter 2. Allele-Specific Mutation Detection; 2.1 INTRODUCTION; 2.2 PCR-ARMS; 2.3 PCR-ASO2.4 THE COMPETITIVE OLIGOPRIMING ASSAY; 2.5 CONCLUSIONS; REFERENCES; Chapter 3. Enzymatic and Chemical Cleavage Methods to Identify Genetic Variation; 3.1 INTRODUCTION; 3.2 CHEMICAL PROPERTIES OF MISMATCHES; 3.3 CHEMICAL CLEAVAGE OF MISMATCH METHOD FOR MUTATION DETECTION; 3.4 ADVANTAGES AND LIMITATIONS; 3.5 ENZYMATIC CLEAVAGE OF MISMATCH METHODS; 3.6 CONCLUSIONS; REFERENCES; Chapter 4. Mutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis; 4.1 INTRODUCTION; 4.2 PRINCIPLES OF SINGLE ; STRAND CONFORMATION POLYMORPHISM ANALYSIS; 4.3 FLUORESCENT SINGLE STRAND CONFORMATION POLYMORPHISM ANALYSIS4.4 PARAMETERS INFLUENCING SINGLE STRAND CONFORMATION POLYMORPHISM ANALYSIS; 4.5 HETERODUPLEX ANALYSIS FOR MUTATION DETECTION; 4.6 SENSITIVITY AND LIMITATIONS; 4.7 DETECTION OF THE UNDERLYING GENOMIC VARIATION USING SSCP AND HDA; 4.8 CONCLUSIONS AND FUTURE ASPECTS; REFERENCES; Chapter 5. Capillary Electrophoresis; 5.1 INTRODUCTION; 5.2 HISTORY, PRINCIPLE, AND POTENTIAL APPLICATIONS OF CAPILLARY ELECTROPHORESIS; 5.3 CAPILLARY ELECTROPHORESIS IN MOLECULAR DIAGNOSTICS; 5.4 MODES OF APPLICATION; 5.5 SPECIFIC DIAGNOSTIC APPLICATIONS; 5.6 FUTURE IMPROVEMENTSREFERENCES; Chapter 6. Temperature and Denaturing Gradient Gel Electrophoresis; 6.1 INTRODUCTION; 6.2 THE THEORY OF TEMPERATURE-GRADIENT GEL ELECTROPHORESIS; 6.3 THE PRACTICE OF TEMPERATURE GRADIENT GEL ELECTROPHORESIS; 6.4 DENATURING GRADIENT GEL ELECTROPHORESIS (DGGE); 6.5 THE USE OF TGGE/DGGE FOR MUTATION DETECTION; 6.6 DETECTION RATE AND SENSITIVITY; 6.7 RELATED TECHNIQUES AND VARIANTS; 6.8 TECHNICAL EQUIPMENT FOR TGGE/DGGE; 6.9 APPLICATIONS OF TGGE/DGGE AND RELATED METHODS; 6.10 CONCLUSIONS; ACKNOWLEDGEMENTS; REFERENCES; Chapter 7. Real-Time Polymerase Chain Reaction7.1 HISTORY OF PCR; 7.2 PRINCIPLE OF REAL-TIME PCR; 7.3 REAL-TIME THERMAL CYCLERS; 7.4 HOW DATA ARE OBTAINED; 7.5 HOW DATA ARE QUANTIFIED; 7.6 MULTIPLEX REAL-TIME PCR; 7.7 APPLICATIONS IN MOLECULAR DIAGNOSTICS; 7.8 CRITERIA FOR DEVELOPING REAL-TIME PCR ASSAYS; 7.9 CONCLUSIONS; REFERENCES; Chapter 8. Pyrosequencing; 8.1 INTRODUCTION; 8.2 TECHNOLOGY; 8.3 APPLICATIONS; 8.4 CONCLUSIONS; ACKNOWLEDGEMENTS; REFERENCES; Chapter 9. Application of Padlock and Selector Probes in Molecular Medicine; 9.1 INTRODUCTION; 9.2 PADLOCK AND SELECTOR PROBES; 9.3 APPLICATION OF PADLOCK AND MOLECULAR INVERSION PROBES FOR GENOTYPING
• Sommario/riassunto: KEY FEATURES: Contains state-of-the-art techniques for the detection of the underlying genetic heterogeneity leading to inherited disorders Includes in-depth discussion of ethical and safety considerations Identifies genetically modified organisms (GMOs) Covers forensic analysis and everyday issues in a diagnostic laboratoryDESCRIPTION:The2e of Molecular Diagnostics, the only book dealing with diagnosis on a molecular level, discusses current molecular biological techniques used to identify the underlying molecular defects in inherited dise

Breast cancer and the environment : a life course approach / / Committee on Breast Cancer and the Environment : The Scientific Evidence, Research Methodology, and Future Directions, Board on Health Care Services, Board on Health Sciences Policy, Institute of Medicine of the National Academies

• Record Nr.: UNINA9910969759603321
• Pubbl/distr/stampa: Washington, D.C., : National Academies Press, c2012
• ISBN: 1-280-67625-6; 9786613653185; 0-309-22070-X
• Edizione: [1st ed.]
• Descrizione fisica: 1 online resource (469 p.)
• Disciplina: 362.19699/449
• Soggetti: Breast - Tumors - Etiology; Breast - Tumors - Prevention; Diseases - Risk factors
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references.
• Nota di contenuto: Background, definitions, concepts -- What we have learned from current approaches to studying environmental risk factors -- Challenges of studying environmental risk factors for breast cancer -- Examining mechanisms of breast cancer over the life course : implications for risk -- Opportunities for action to reduce environmental risks for breast cancer -- Recommendations for future research.
• Sommario/riassunto: Breast cancer remains the most common invasive cancer among women. The primary patients of breast cancer are adult women who are approaching or have reached menopause; 90 percent of new cases in U.S. women in 2009 were diagnosed at age 45 or older. Growing knowledge of the complexity of breast cancer stimulated a transition in breast cancer research toward elucidating how external factors may influence the etiology of breast cancer. Breast Cancer and the Environment reviews the current evidence on a selection of environmental risk factors for breast cancer, considers gene-; environment interactions in breast cancer, and explores evidence-based actions that might reduce the risk of breast cancer. The book also recommends further integrative research into the elements of the biology of breast development and carcinogenesis, including the influence of exposure to a variety of environmental factors during potential windows of susceptibility during the full life course, potential interventions to reduce risk, and better tools for assessing the carcinogenicity of environmental factors. For a limited set of risk factors, evidence suggests that action can be taken in ways that may reduce risk for breast cancer for many women: avoiding unnecessary medical radiation throughout life, avoiding the use of some forms of postmenopausal hormone therapy, avoiding smoking, limiting alcohol consumption, increasing physical activity, and minimizing weight gain. Breast Cancer and the Environment sets a direction and a focus for future research efforts. The book will be of special interest to medical researchers, patient advocacy groups, and public health professionals.