ISSN:0892-6638    

DOI:10.1096/fasebj.5.1.1991585

出版商:Wiley    

年代:1991

数据来源: WILEY

摘要:

The Human Genome Project has become a reality. Building on a debate that dates back to 1985, several genome projects are now in full stride around the world, and more are likely to form in the next several years. Italy began its genome program in 1987, and the United Kingdom and U.S.S.R in 1988. The European communities mounted several genome projects on yeast, bacteria,Drosophila, andArabidospis thaliana(a rapidly growing plant with a small genome) in 1988, and in 1990 commenced a new 2‐year program on the human genome. In the United States, we have completed the first year of operation of the National Center for Human Genome Research at the National Institutes of Health (NIH), now the largest single funding source for genome research in the world. There have been dedicated budgets focused on genome‐scale research at NIH, the U.S. Department of Energy, and the Howard Hughes Medical Institute for several years, and results are beginning to accumulate. There were three annual meetings on genome mapping and sequencing at Cold Spring Harbor, New York, in the spring of 1988, 1989, and 1990; the talks have shifted from a discussion about how to approach problems to presenting results from experiments already performed. We have finally begun to work rather than merely talk. The purpose of genome projects is to assemble data on the structure of DNA in human chromosomes and those of other organisms. A second goal is to develop new technologies to perform mapping and sequencing. There have been impressive technical advances in the past 5 years since the debate about the human genome project began. We are on the verge of beginning pilot projects to test several approaches to sequencing long stretches of DNA, using both automation and manual methods. Ordered sets of yeast artificial chromosome and cosmid clones have been assembled to span more than 2 million base pairs of several human chromosomes, and a region of 10 million base pairs has been assembled forCaenorhabditis elegansby a collaboration between Washington University and the Medical Research Council laboratory in Cambridge, U.K. This project is now turning to sequencing C.elegansDNA as a logical extension of this work. These are but the first fruits of the genome project. There is much more to come.—Watson, J. D., Cook‐Deegan, R. M. Origins of the human genome project.FASEB J.5: 8–11; 1991.

ISSN:0892-6638    

DOI:10.1096/fasebj.5.1.1991595

出版商:Wiley    

年代:1991

数据来源: WILEY

摘要:

The human is estimated to have at least 50,000 expressed genes (gene loci). Some information is available concerning about 5000 of these gene loci and about 1900 have been mapped, i.e., assigned to specific chromosomes (and in most instances particular chromosome regions). Progress has been achieved by a combination of physical mapping (e.g., study of somatic cell hybrids and chromosomal in situ hybridization) and genetic mapping (e.g., genetic linkage studies). New methods for both physical and genetic mapping are expanding the armamentarium. The usefulness of the mapping information is already evident; the spin‐off from the Human Genome Project (HGP) begins immediately. The complete nucleotide sequence is the ultimate map of the human genome. Sequencing, although already under way for limited segments of the genome, will await further progress in gene mapping, and in particular creation of contig maps for each chromosome. Meanwhile the technology of sequencing and sequence information handling will be developed. It is argued that the HGP is a new form of coordinated, interdisciplinary science; that its primary objective must be seen as the creation of a tool for bio‐medical research — a source book that will be the basis of study of variation and function for a long time; that the impact on scientist training will be salutary by relieving graduate students of useless drudgery and by training scientists competent in both molecular genetics and computational science; and that the funding of the HGP will have an insignificant negative effect on science funding generally, and indeed may have a beneficial effect through economy of scale and a focusing of attention on the excitement of biology and medical science.—McKusick, V. A. Current trends in mapping human genes.FASEB J.5: 12–20; 1991.

ISSN:0892-6638    

DOI:10.1096/fasebj.5.1.1991580

出版商:Wiley    

年代:1991

数据来源: WILEY

摘要:

A wide variety of techniques are available for detecting disease‐causing mutations within human genes; this report provides a brief review of such procedures. Good communication and exchange of materials between the clinical genetics field and the Human Genome Initiative will benefit both.—Rossiter, B. J. F.; Caskey, C. T. Molecular studies of human genetic disease.FASEB J.5: 21–27; 1991.

ISSN:0892-6638    

DOI:10.1096/fasebj.5.1.1846832

出版商:Wiley    

年代:1991

数据来源: WILEY

摘要:

We describe improvements in techniques and strategies used for making maps of the human genome. The methods currently used are changing and evolving rapidly. Today's techniques can produce ordered arrays of DNA fragments and overlapping sets of DNA clones covering extensive genomic regions, but they are relatively slow and tedious. Methods under development will speed the process considerably. New developments include a range of applications of the polymerase chain reaction, enhanced procedures for high resolution in situ hybridization, and improved methods for generating, manipulating, and cloning large DNA fragments. More detailed genetic and physical maps will be useful for finding genes, including those associated with human diseases, long before the complete DNA sequence of the human genome is available.—Billings, P. R., Smith, C. L., and Cantor, C. R. New techniques for physical mapping of the human genome.FASEB J. 5: 28–34; 1991.

ISSN:0892-6638    

DOI:10.1096/fasebj.5.1.1846833

出版商:Wiley    

年代:1991

数据来源: WILEY

摘要:

The major product of the Human Genome Project will be a series of linked data sets containing the genetic and physical location of all genes on each chromosome, plus the complete nucleotide sequence of the genome for humans and several model organisms. Here we summarize the current status of attempts to collect, analyze, and distribute this information in an electronically accessible form. Although formidable problems remain to be solved in the acquisition and adequate representation of the genetic, physical, and biological data, this project is a model for the rapid dissemination of genome and related information in biology and medicine.—Pearson, M. L.; Söll, D. The Human Genome Project: a paradigm for information management in the life sciences.FASEB J.5: 35–39; 1991.

ISSN:0892-6638    

DOI:10.1096/fasebj.5.1.1991581

出版商:Wiley    

年代:1991

数据来源: WILEY

摘要:

As the human genome program gets under way, we examine the progress made since the first human genome meeting in Santa Cruz in 1985. The lessons of the last 5 years demonstrate that progress has been much slower than anticipated. The new technology being developed in 1985 was fluorescent sequencing and multiplexing. These techniques are now established, but they still have to produce a substantial sequence to rival those determined by conventional technology. Inspection of the EMBL and GenBank databases shows few large sequences have been determined and that there is a large discrepancy between what is theoretically possible and what has been achieved so far.—Barrell, B. DNA sequencing: present limitations and prospects for the future.FASEB J.5: 40–45; 1991.

ISSN:0892-6638    

DOI:10.1096/fasebj.5.1.1991583

出版商:Wiley    

年代:1991

数据来源: WILEY

摘要:

The objectives of the Human Genome Project are to create high‐resolution genetic and physical maps, and ultimately to determine the complete nucleotide sequence of the human genome. The result of this initiative will be to localize the estimated 50,000–100,000 human genes, and acquire information that will enable development of a better understanding of the relationship between genome structure and function. To achieve these goals, new methodologies that provide more rapid, efficient, and cost effective means of genomic analysis will be required. From both conceptual and practical perspectives, the polymerase chain reaction (PCR) represents a fundamental technology for genome mapping and sequencing. The availability of PCR has allowed definition of a technically credible form that the final composite map of the human genome will take, as described in the sequence‐tagged site proposal. Moreover, applications of PCR have provided efficient approaches for identifying, isolating, mapping, and sequencing DNA, many of which are amenable to automation. The versatility and power provided by PCR have encouraged its involvement in almost every aspect of human genome research, with new applications of PCR being developed on a continual basis.—Rose, E. A. Applications of the polymerase chain reaction in genome analysis.FASEB J.5: 46–54; 1991.

ISSN:0892-6638    

DOI:10.1096/fasebj.5.1.1991584

出版商:Wiley    

年代:1991

数据来源: WILEY

摘要:

In addition to provocative questions about science policy, research on the human genome will generate important ethical questions in at least three categories. First, the possibility of greatly increased genetic information about individuals and populations will require choices to be made about what that information should be and about who should control the generation and dissemination of genetic information. Presymptomatic testing, carrier screening, workplace genetic screening, and testing by insurance companies pose significant ethical problems. Second, the burgeoning ability to manipulate human genotypes and phenotypes raises a number of important ethical questions. Third, increasing knowledge about genetic contributions to ethically and politically significant traits and behaviors will challenge our self‐understanding and social institutions.—Murray, T. H. Ethical issues in human genome research.FASEB J.5: 55–60; 1991.

ISSN:0892-6638    

DOI:10.1096/fasebj.5.1.1825074

出版商:Wiley    

年代:1991

数据来源: WILEY

摘要:

In the history of gene mapping, which extends through most of the present century, Europe has played an important role. This has continued during the evolution of the 10 International Human Gene Mapping Workshops that have been held in seven different countries since 1973. Nationally coordinated programs have been a recent development, and several European countries, including the United Kingdom and Italy, have followed the lead of the United States in investing substantial sums of money in research on the human genome. In addition, the European Community has launched a multinational program of research on Human Genome Analysis to complement the various national initiatives. The particular approach in Europe has been to support those in the field by establishing resource centers for distributing biomaterials and accessing databases, by assisting in the training of scientists, and by funding programs of research directed at present needs in both physical and genetic mapping.—Ferguson‐Smith, M. A. European approach to the human gene project.FASEB J.5: 61–65; 1991.

ISSN:0892-6638    

DOI:10.1096/fasebj.5.1.1991586

出版商:Wiley    

年代:1991

数据来源: WILEY