Mapping and sequencing the human genome
| Autor principal: | |
|---|---|
| Autor Corporativo: | |
| Formato: | Libro electrónico |
| Idioma: | Inglés |
| Publicado: |
Washington, D.C. :
National Academy Press
1988.
|
| Edición: | 1st ed |
| Materias: | |
| Ver en Biblioteca Universitat Ramon Llull: | https://discovery.url.edu/permalink/34CSUC_URL/1im36ta/alma991009622102306719 |
Tabla de Contenidos:
- Mapping and Sequencing the Human Genome
- Copyright
- Preface
- Contents
- MAPPING AND SEQUENCING THE HUMAN GENOME
- 1 Executive Summary
- GENOME MAPPING
- GENOME SEQUENCING
- INFORMATION AND MATERIALS HANDLING
- IMPLEMENTATION STRATEGIES
- MANAGEMENT STRATEGY
- 2 Introduction
- GENOMES, GENES, AND GENOMIC MAPS
- Genomes Consist of DNA Molecules That Contain Many Genes
- The Human Genome Is Composed of 24 Different Types of DNA Molecules
- The Human Genome Can Be Mapped in Many Different Ways
- MEDICAL IMPLICATIONS OF DETAILED HUMAN GENOME MAPS
- IMPLICATIONS FOR BASIC BIOLOGY
- EXPECTED GECHNOLOGICAL DEVELOPMENTS GENERATED BY A HUMAN GENOME PROJECT AND THEIR IMPACT ON BIOLOGICAL RESEARCH
- IMPACT ON THE RESEARCH BY SMALL GROUPS
- REFERENCES
- 3 Implications for Medicine and Science
- MEDICAL USES
- A Map of the Human Genome Will Greatly Facilitate the Identification of Specific Disease Genes
- Disease Genes Promise to Provide Important Insights into Human Biology
- Specific Medical Applications
- Toward an Understanding of Cancer
- IMPLICATIONS FOR BASIC BIOLOGY
- What Aspects of Genome Organization Are Important for Genome Function?
- Many New Human Genes and Proteins Will Be Identified
- How Do Organisms Evolve?
- References
- 4 Mapping
- Early Cytological Mapping Efforts Depended on Examining Chromosomes Under the Light Microscope
- The Current Revolution in Genome Mapping Is Based on the Use of Recombinant-DNA Techniques
- FUNDAMENTALS OF GENOME MAPPING
- Physical Maps Describe Chromosomal DNA Molecules, Whereas Genetic Linkage Maps Describe Patterns of Inheritance
- The Development of Ordered Collections of DNA Clones Is an Important
- Both Physical and Genetic Linkage Maps Can Be Constructed with Various Degrees of Resolution and Connectivity
- GENETIC LINKAGE MAPPING.
- Restriction Fragment Length Polymorphisms Are Convenient Landmarks for Genetic Linkage Mapping
- Genetic Linkage Mapping Requires the Study of Many People in Large Family Groups
- RFLPs Are Useful for Interrelating Physical and Genetic Linkage Maps
- A Reference RFLP Map for the Human Would Be a Critical Tool for Studying Inherited Diseases
- MAKING PHYSICAL MAPS
- Medium-Resolution Mapping of Restriction Sites Is Facilitated by New Methods of Preparing and Separating Large DNA Molecules
- High-Resolution Mapping of Restriction Sites Will Require the Use of Ordered Collections of DNA Clones
- Fingerprinting Methods Can Be Used to Order DNA Clones
- The Optimal Method for Preparing Ordered Collections of DNA Clones Is Not Yet Clear
- IMMEDIATE APPLICATIONS OF CHROMOSOME MAPS
- CONCLUSIONS AND RECOMMENDATIONS
- Recent Breakthroughs Have Set the Stage for Large-Scale Mapping
- Different Mapping Methods Should Proceed in Parallel
- The Improvement of Physical Mapping Techniques Should Be Closely Coupled to Actual Attempts to Map Large Genomes
- Specific Improvements That Will Facilitate Map Construction and Usefulness Can Be Identified
- REFERENCES
- 5 Sequencing
- WHY SEQUENCE THE ENTIRE HUMAN GENOME?
- CURRENT TECHNOLOGY IN DNA SEQUENCING: CHEMICAL AND ENZYMATIC METHODS
- THE DIFFICULTY OF DETERMINING THE SEQUENCE OF THE HUMAN GENOME WITH CURRENT TECHNOLOGY
- THE ACCURACY OF DNA SEQUENCING
- EMERGING AND FUTURE TECHNOLOGY
- OPTIONS AND RECOMMENDATIONS
- The Project Should Begin with Two Kinds of Studies
- To Derive the Full Benefit of the Human Genome Sequence Will Require Many New Tools, Including a Comprehensive Database…
- DNA Sequence Determinations Require Quality Control
- REFERENCES
- 6 The Collection, Analysis, and Distribution of Information and Materials
- PRESENT INFORMATION-HANDLING ORGANIZATIONS
- GenBank/EMBL.
- Mendelian Inheritance in Man
- Human Gene Mapping Library
- Centre d'Etude du Polymorphisme Humain
- MAPPING DATA BASES REQUIRED FOR A HUMAN GENOME PROJECT
- The Collaborative Facilities Needed To Generate an RFLP Map Must Be Expanded
- All Human Map Data Should Be Accessible from a Single Data Base
- A Material Collection and Distribution Facility for Ordered Sets of Cloned DNA Fragments Will Be an Important First Stage in…
- A DNA SEQUENCE DATA BANK DEDICATED TO A HUMAN GENOME PROJECT
- A Concerted Initiative Aimed at Determining the Sequence of the Human Genome Will Generate Large Amounts of DNA Sequence Data
- All Data Must Be Entered Electronically or Magnetically
- An Initial Analysis Should Be Performed by a Central Facility
- An Example of an Initial Sequence Analysis
- Establishing an Efficient Computer Network
- The Need for Research on Data Analysis
- The Estimated Cost
- CONCLUSIONS
- REFERENCES
- 7 Implementation and Management Strategies
- FUNDING A HUMAN GENOME PROJECT
- Projects with the Potential to Make Substantial Technological Improvements in Genome Analysis Should Receive Top Priority
- Both Small Research Laboratories and Larger Multidisciplinary Centers Should Be Encouraged
- The Establishment of a Single Large Production Center is Not Advisable at Present
- Decisions for Funding Should Be Made by Peer Review
- The Human Genome Project Requires New and Distinctive Funding of About 200 Million per Year
- Mapping Efforts Should Be Accelerated and Coordinated
- The Sequencing Effort Should Evolve and Grow with Time
- International Collaboration on the Project Is Desirable
- MANAGING A HUMAN GENOME PROJECT
- Three Possible Organizational Plans
- Organizational Plan A: A Lead Agency and a Scientific Advisory Board
- Organizational Plan B: An Interagency Committee and Scientific Advisory Board.
- Organizational Plan C: Interagency Committee, Administrative Agency, and Scientific Advisory Board
- REFERENCE
- 8 Implications for Society
- COMMERCIAL AND LEGAL IMPLICATIONS
- ETHICAL AND SOCIAL IMPLICATIONS
- Conducting a Genome Mapping and Sequencing Project
- Interpreting the Medical Implications of Genetic Information
- The Use and Abuse of a Complete Genome Map
- REFERENCES
- Appendix A Glossary
- Appendix B Curricula Vitae of Committee Members
- Appendix C Invited Speakers at Committee Meetings
- Index.
