Cytogenet. Cell Genet. 25: 1-2 (1979)
Introduction1
The Fiftli International Workshop on Human Gene Mapping was held at the University of Edinburgh July 9-13, 1979, and was sponsored by The National Foun dation— March of Dimes. Previous work shops in this series were held at Yale Uni versity, New Haven, Conn., in 1973; Erasmus University, Rotterdam, 1974; Johns Hopkins University, Baltimore, 1975; and the Uni versity of Manitoba, Winnipeg, 1977. These workshops provide a forum for scientists interested in the genetics of man and of human disease to meet and discuss problems of mutual interest, with specific emphasis on contributing new evidence and discussion relevant to the goal of mapping the human genome. With each succeeding workshop an everincreasing number of genes has been as 1 When referring to this report in text, it should be cited as Human Gene Mapping 5 (1979). The complete citation for reference lists is: Human Gene Mapping 5 (1979): Fifth International Work shop on Human Gene Mapping. Birth Defects: Original Article Series XV, 11, 1979, The National Foundation. New York: also in Cytogenetics and Cell Genetics, Vol. 25, Nos. 1-4. 1979. Additional copies may be ordered from the publishers, S. Karger AG. Basel, Switzerland.
signed to specific chromosomes, their linkage with other loci diligently searched for, and their locations accurately mapped. The mapping of a locus requires accurate know ledge of the presence or absence of the products (or consequences) of the gene in question, coupled with cytogenetic informa tion on the chromosome constitution and, if available, data on linkage to other, prefer ably already mapped, loci. In this work the use of family studies, of segregating chro mosomes in cultured human-murine hybrid cells, of separation and identification of proteins by chromatography, electrophoresis, and serology, and of high-resolution cyto genetic banding methods for identifying parts of chromosomes have all contributed to the armory available for mapping human genes. Over the past few years the availability of bacterial restriction endonucleases that cut double-stranded DNA at sites specified by particular base sequences and the de velopment of recombinant DNA techniques that enable single genes to be cloned and amplified following their insertion into bac terial plasmids have provided powerful tools for dissecting the structure of a coding locus. It was both recognized and emphasized at
Introduction
2
the Winnipeg Conference (1977) that these techniques also provide highly specific probes for locating DNA sequences within the genome, and they are now beginning to be successfully applied to human gene mapping. At the Edinburgh Conference, there were a number of reports of genes and DNA sequences being located through the use of restriction fragments and plasmid vectors containing inserted DNA sequences, as, for example, evidenced by the mapping of the human histone genes to chromo some 7 and the /i-globin gene to 11. These techniques will undoubtedly be increasingly used in the future. One of the problems attendant upon success in gene mapping is the increasing need for a better definition of the cyto genetic landscape of the human genome. Cytogenetic banding techniques reveal some 300 identifiable transverse bands over the 24 different chromosomes in the human metaphase karyotype. However, studies on prophase chromosomes, which were discus sed at the Conference, indicate that around a 1000 or so bands may be resolved in uncondensed chromosomes. Since there are tens of thousands of loci in the genome, improvements in the cytogenetic map are certainly necessary, and any developments in this area should be carefully nurtured. For this reason, we welcome the activities of the Standing Committee on Human Cyto genetic Nomenclature, which met in Edin burgh after the workshop had finished and are now engaged in producing a high-resolu tion chromosome banding map. The proceedings at Edinburgh were orga nized so that all contributors presented their data in poster form and were allowed time to air their main findings in free discussion in the relevant committee sessions. There were
nine committees and some 180 posters. Each participant presented a one-page abstract of the contents of his or her poster, and 178 abstracts were accepted by the committees and are published in this volume. A distillate of the discussions and conclusions of each committee was transferred onto paper by the two chairmen of each committee and. in an attempt to complete the committee re ports quickly to ensure their rapid publica tion, the chairmen graciously consented to stay in Edinburgh an extra day and to work two extra nights. I am most grateful to them all for undertaking a difficult and arduous task most efficiently; the fruits of their labor are the committee reports that comprise the first part of this volume. During the workshop we were educated and entertained by five invited speakers who lectured in two of our plenary sessions. It was a deliberate policy, and the speakers were so informed, that these lectures would not be published in this volume. I wish, therefore, to take this opportunity to place on record our grateful thanks to each of the speakers. Pat J acobs, Hans GAtJAARn, D ick F lavell, Frank Ruddle, and Walter Bodmer, for their excellent contributions. Finally, I should like to express my per sona! thanks to my colleagues in our MRC Clinical and Population Cytogenetics Unit who helped to organize the Edinburgh Con ference; to Karin Buckton, V eronica VanH eyningen, and John Gosden, our local organizing committee; and, above all, to my secretary. Mrs. Kathleen McK inlay. for the tremendous amount of work that they undertook calmly and efficiently, and for their unstinting support. Edinburgh July, 1979
H. John E vans
Introduction1
The Fiftli International Workshop on Human Gene Mapping was held at the University of Edinburgh July 9-13, 1979, and was sponsored by The National Foun dation— March of Dimes. Previous work shops in this series were held at Yale Uni versity, New Haven, Conn., in 1973; Erasmus University, Rotterdam, 1974; Johns Hopkins University, Baltimore, 1975; and the Uni versity of Manitoba, Winnipeg, 1977. These workshops provide a forum for scientists interested in the genetics of man and of human disease to meet and discuss problems of mutual interest, with specific emphasis on contributing new evidence and discussion relevant to the goal of mapping the human genome. With each succeeding workshop an everincreasing number of genes has been as 1 When referring to this report in text, it should be cited as Human Gene Mapping 5 (1979). The complete citation for reference lists is: Human Gene Mapping 5 (1979): Fifth International Work shop on Human Gene Mapping. Birth Defects: Original Article Series XV, 11, 1979, The National Foundation. New York: also in Cytogenetics and Cell Genetics, Vol. 25, Nos. 1-4. 1979. Additional copies may be ordered from the publishers, S. Karger AG. Basel, Switzerland.
signed to specific chromosomes, their linkage with other loci diligently searched for, and their locations accurately mapped. The mapping of a locus requires accurate know ledge of the presence or absence of the products (or consequences) of the gene in question, coupled with cytogenetic informa tion on the chromosome constitution and, if available, data on linkage to other, prefer ably already mapped, loci. In this work the use of family studies, of segregating chro mosomes in cultured human-murine hybrid cells, of separation and identification of proteins by chromatography, electrophoresis, and serology, and of high-resolution cyto genetic banding methods for identifying parts of chromosomes have all contributed to the armory available for mapping human genes. Over the past few years the availability of bacterial restriction endonucleases that cut double-stranded DNA at sites specified by particular base sequences and the de velopment of recombinant DNA techniques that enable single genes to be cloned and amplified following their insertion into bac terial plasmids have provided powerful tools for dissecting the structure of a coding locus. It was both recognized and emphasized at
Introduction
2
the Winnipeg Conference (1977) that these techniques also provide highly specific probes for locating DNA sequences within the genome, and they are now beginning to be successfully applied to human gene mapping. At the Edinburgh Conference, there were a number of reports of genes and DNA sequences being located through the use of restriction fragments and plasmid vectors containing inserted DNA sequences, as, for example, evidenced by the mapping of the human histone genes to chromo some 7 and the /i-globin gene to 11. These techniques will undoubtedly be increasingly used in the future. One of the problems attendant upon success in gene mapping is the increasing need for a better definition of the cyto genetic landscape of the human genome. Cytogenetic banding techniques reveal some 300 identifiable transverse bands over the 24 different chromosomes in the human metaphase karyotype. However, studies on prophase chromosomes, which were discus sed at the Conference, indicate that around a 1000 or so bands may be resolved in uncondensed chromosomes. Since there are tens of thousands of loci in the genome, improvements in the cytogenetic map are certainly necessary, and any developments in this area should be carefully nurtured. For this reason, we welcome the activities of the Standing Committee on Human Cyto genetic Nomenclature, which met in Edin burgh after the workshop had finished and are now engaged in producing a high-resolu tion chromosome banding map. The proceedings at Edinburgh were orga nized so that all contributors presented their data in poster form and were allowed time to air their main findings in free discussion in the relevant committee sessions. There were
nine committees and some 180 posters. Each participant presented a one-page abstract of the contents of his or her poster, and 178 abstracts were accepted by the committees and are published in this volume. A distillate of the discussions and conclusions of each committee was transferred onto paper by the two chairmen of each committee and. in an attempt to complete the committee re ports quickly to ensure their rapid publica tion, the chairmen graciously consented to stay in Edinburgh an extra day and to work two extra nights. I am most grateful to them all for undertaking a difficult and arduous task most efficiently; the fruits of their labor are the committee reports that comprise the first part of this volume. During the workshop we were educated and entertained by five invited speakers who lectured in two of our plenary sessions. It was a deliberate policy, and the speakers were so informed, that these lectures would not be published in this volume. I wish, therefore, to take this opportunity to place on record our grateful thanks to each of the speakers. Pat J acobs, Hans GAtJAARn, D ick F lavell, Frank Ruddle, and Walter Bodmer, for their excellent contributions. Finally, I should like to express my per sona! thanks to my colleagues in our MRC Clinical and Population Cytogenetics Unit who helped to organize the Edinburgh Con ference; to Karin Buckton, V eronica VanH eyningen, and John Gosden, our local organizing committee; and, above all, to my secretary. Mrs. Kathleen McK inlay. for the tremendous amount of work that they undertook calmly and efficiently, and for their unstinting support. Edinburgh July, 1979
H. John E vans
