TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM
Barker, U Alabama Birm, USA Kitzis, CHU-Paris, France
Barton, Cambridge, England Klinger, Integ Genet, USA
Barranger, Los Angeles, USA Knight, London, England
Beaudet, Baylor, USA Lavinha, Lisboa Codex, Portugal
Boué, Paris, France Lissens, Vrije U Brussels
Bowcock, Stanford, USA Loukopoulos, Athens, Greece
Cao, U Cagliari, Italy Lucotte, College de France
Carbonara, Torino, Italy Malcolm, ICH-London, England
Cassiman, U Leuven, Belgium Malik, Basler-Basel, Switzerland
Claustres, Montpellier, France Mao, Collab Res, USA
Collins, U Michigan, USA McIntosh, WGH-Edinburgh, Scotland
Cutting, Johs Hopkins, USA Morel, Lyon, France
Dallapiccola, Roma, USA Morgan, McGill, Canada
Dean, NCI Frederick, USA Naylor, UT San Antonio, USA
De Arce, Dublin, N Ireland Olek, U Bonn, West Germany
Edwards, Oxford, England Orr, U Minnesota, USA
Elles, St Mary's-Manchester, England Pignatti, U Verona, Italy
Erlich, Cetus, USA Ramsay, SAMIR, South Africa
Estivill, Barcellona, Spain Richards, GeneScreen, USA
Ferec, Brest, France Romeo, Gaslini-Genoa, Italy
Ferrari, Milano, Italy Rowley, Rochester, USA
Godet, Villeurbanna, France Rozen, Montreal Children, Canada
Goossens, Creteil, France Scheffer,UGottingen,TheNetherlands
Graham, Belfast, N Ireland Schmidtke, IHG, Berlin
Gruenert, UCSF, USA Schwartz, U Copenhagen, Denmark
Halley, Rotterdam, The Netherlands Sebastio, Naple, Italy
Harris, Guy's-London, England Spona, Viena, Austria
Highsmith, NC Mem Hosp, USA Super, Royal Manchester, England
Horst, Münster, West Germany Thibodeau, Rochester, USA
Jaume-Roig, Son Dureta, Spain Tsui, Toronto, Canada
Kalaydjieva, Sofia, Bulgaria Tümmler, Hannova, West Germany
Kant, U Penn, USA Williamson,St Mary'sLondon,England
FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 7
NEWSLETTER #9, March 12, 1990
1. Garry Cutting has reported a nonsense mutation in exon 21 of the CF gene. His letter is attached.
2. Michael Dean et al. have identified 2 additional mutations, both single nucleotide deletions. Their report is attached.
3. There has been more than 3 months since we formed this CF Genetic Analysis Consortium. Both the membership and the number of additional mutations are climbing- the membership has increased to 64 groups and the total number of mutations accumulated is 22 (including [[Delta]]F508). It has also become more and more difficult to make sure that every one gets the Newsletters. Although the FAX machine will try each address 5 times, there are a number of telephone numbers that seem particularly difficult to reach. As a result, they have to be sent manually the next day every time. There are also complaints from some members about missing mailings, although our records showed that the transmissions were fine. Since it is impossible to send each individual letters manually, with the appropriate titles, address, etc., please advise each of your receiving ends to watch for this particular Newsletter cover page for future issues.
4. I think it is time to think about a joint report on the [[Delta]]F508 mutation. Although there is a series papers from the European groups to be published in Human Genetics shortly, I thought a combined "worldwide" report would be useful. In this proposed report intended for American Journal of Human Genetics, I would like to include (1) total CF chromosomes screened; (2) number of those with [[Delta]]F508; (3) the percentage; and (4) geographic location or ethnic distribution. The data on haplotypes, pancreatic status and other clinical features will not be included. In order to simplify my life, please send me an update of your data on the 4 subjects only, regardless what you have sent previously, and the names of individuals that need to be included in the publication. The report will appear with the name of the Consortium with all authors listed as a footnote. Since the footnote is likely to be longer than the report itself, I would arbitrarily limit the maximal number of authors per group to 3, unless I hear strong objections. Please also simplify the affiliations to only names of institutes, city, and country. The order of listing will be determined by the amount of data submitted by the group; the one with most data will come first, etc.
5. I would also like to ask members (or friends) once again not to join this consortium just to receive privileged information about additional mutations and population frequencies, but to contribute information as well.