Mapping and sequencing the human genome / Committee on Mapping and Sequencing the Human Genome, Board on Basic Biology, Commission on Life Sciences, National Research Council.

Format:

Book

Author/Creator:

National Research Council (U.S.). Committee on Mapping and Sequencing the Human Genome.

Language:

English

Subjects (All):

Human gene mapping.

Gene mapping.

Physical Description:

1 online resource (128 p.)

Edition:

1st ed.

Place of Publication:

Washington, D.C. : National Academy Press, 1988.

Language Note:

English

Summary:

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.

Contents:

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

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

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

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

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

Appendix A Glossary

Appendix B Curricula Vitae of Committee Members

Appendix C Invited Speakers at Committee Meetings

Index.

Notes:

Bibliographic Level Mode of Issuance: Monograph

Includes bibliographical references and index.

ISBN:

9786610214983

9781280214981

1280214988

9780309535007

030953500X

9780585149172

0585149178

OCLC:

70772938