TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM
Amos, Boston U, USA Kalaydjieva, Sofia, Bulgaria
Anvret, Stockholm, Sweden Kant, U Penn, USA
Baranov, Leningrad, USSR Kerem, Jerusalem, Israel
Barker, U Alabama Birm, USA Kitzis, CHU-Paris, France
Barton, Cambridge, England Klinger, Integ Genet, USA
Beaudet, Baylor, USA Knight, London, England
Boué, Paris, France Komel, Ljubljiana, Yugoslavia
Cao, U Cagliari, Italy Krueger, Hahnemann, USA
Carbonara, Torino, Italy Kulozik, Univ Ulm, Germany
Cassiman, U Leuven, Belgium Lavinha, Lisboa Codex, Portugal
Claustres, Montpellier, France Lissens, Vrije U Brussels, Belgium
Cochaux, Brussels, Belgium Loukopoulos, Athens, Greece
Collins, U Michigan, USA Lucotte, College de France
Coskun, Hacettepe U, Turkey Malcolm, ICH-London, England
Coutelle, Berlin, Germany Macek, Free U Berlin, Germany
Cutting, Johns Hopkins, USA Malik, Basler-Basel, Switzerland
Dallapiccola, Roma, Italy Mao, Collab Res, USA
De Arce, Dublin, Ireland Meitinger, U Müchen, Germany
de la Chapelle, Helsinki, Finland Morel, Lyon, France
Dean, NCI Frederick,
USA Morgan, McGill, Canada
Desnick, Mount Sinai, New York, USA Nukiwa, Tokyo, Japan
Edkins, Perth, Australia Ober, U Chicago, USA
Edwards, Oxford, England Olek, U Bonn, Germany
Efremov, Skopje, Yugoslavia Orr, U Minnesota, USA
Elles, St Mary's-Manchester, England Pignatti, U Verona, Italy
Erlich, Cetus, USA Pivetta, Buenos Aires, Argentina
Estivill, Barcelona, Spain Ramsay, SAMIR, South Africa
Ferec, Brest, France Richards, GeneScreen, USA
Ferrari, Milano, Italy Romeo, Gaslini-Genoa, Italy
George, Christchurch, New Zealand Rowley, Rochester, USA
Gerard, Harvard, USA Rozen, Montreal Children, Canada
Gilbert, Cornell, New York, USA Scheffer,UGroningen,The Netherlands
Godet, Villeurbanna, France Schmidtke, Hannova, Germany
Goossens, Creteil, France Schwartz, U Copenhagen, Denmark
Graham, Belfast, N Ireland Sebastio, Naples, Italy
Halley, Rotterdam, The Netherlands Seltzer, U Colorado, USA
Harris, Guy's-London, England Spona, Vienna, Austria
Higgins, Birmingham, England Super, Royal Manchester, England
Highsmith, NC Mem Hosp, USA Thibodeau, Rochester, USA
Hood, California Inst Tech, USA Tümmler, Hannova, Germany
Horst, Münster, Germany Verellen-Dumoulin,Bruxelles,Belgium
Jaume-Roig, Son Dureta, Spain Willems, Univ Antwerp, Belgium
Jones, WGH-Edinburgh, Scotland Williamson,St Mary'sLondon,England
_____________________________________________________________
FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 15
_____________________________________________________________
NEWSLETTER #36, July 10, 1991
_____________________________________________________________
1. Ferec C, Quere I, Quillermit H and Verlingue C report a mutation located at the 5' splice junction of intron 20 (4005+1G->A).
2. Malik N, Hofmann S, Morris M and Bühler E report a 3 bp deletion in intron 20. This mutation which is named 4006-19del3 may cause abnormal splicing.
3. Ferec C, Quillermit H, Quere I and Verlingue C report a C to T change at nucleotide position 1607 in exon 10. This mutation (S492F) destroys a DdeI site and it may be a "mild" mutation conferring pancreatic sufficiency.
4. Claustres M, Gerrard B, White MB and Dean M report a frameshift mutation in exon 7- 1078delT.
5. Dörk T, Neumann T and Tümmler B provide further information about 2 sequence variations (see attached).
6. Chillón M, Nunes V and Estivill X report an A to G change at the beginning of exon 4- causing an amino acid substitution E92K.
7. Some of us met informally at The European Cystic Fibrosis Conference on June 18, Copenhagen. It was generally agreed that it had been too expensive to prepare oligonucleotides for the PCR as well as for hybridization. Since only small amounts of oligonucleotides are used in allele-specific hybridization, it was thought to be worthwhile to establish a mechanism to exchange normal and mutant ASOs for those who are screening mutations by this method. Please drop me a note if you like this idea and, for those who are willing to provide oligonucleotides, please send me a list as well so that a compiled list can be published next month.
8. There was some complaint that there was no advance notice for publication of the large population screening table. On the contrary, deadline was actually set each time but data always kept dribbling in after the deadline. In any case, I think it is about time to call for an update again. Please return the data to me on the attached form by the 15th of September. No haplotype data and genotype counts please. I will try to compile the data before the next general meeting.
9. The next general meeting of the consortium will be held at the International Human Genetics Congress in Washington, D.C. on October 6-11. It is scheduled between 6:30 and 7:30 pm on Wednesday, October 9 (location to be announced later). There will also be an informal meeting at the North American CF Conference, October 2-5, 1991, Dallas, Texas (The exact time and location to be announced).
Best regards,
Lap-Chee Tsui