TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM
Amos, Boston U, USA Kitzis, CHU-Paris, France
Barker, U Alabama Birm, USA Klinger, Integ Genet, USA
Barton, Cambridge, England Knight, London, England
Barranger, Los Angeles, USA Lavinha, Lisboa Codex, Portugal
Beaudet, Baylor, USA Lissens, Vrije U Brussels
Boué, Paris, France Loukopoulos, Athens, Greece
Bowcock, Stanford, USA Lucotte, College de France
Cao, U Cagliari, Italy Malcolm, ICH-London, England
Carbonara, Torino, Italy Malik, Basler-Basel, Switzerland
Cassiman, U Leuven, Belgium Mao, Collab Res, USA
Claustres, Montpellier, France McIntosh, WGH-Edinburgh, Scotland
Collins, U Michigan, USA Morel, Lyon, France
Cutting, Johns Hopkins, USA Morgan, McGill, Canada
Dallapiccola, Roma, USA Naylor, UT San Antonio, USA
Dean, NCI Frederick, USA Olek, U Bonn, West Germany
De Arce, Dublin, Ireland Orr, U Minnesota, USA
Edwards, Oxford, England Pignatti, U Verona, Italy
Elles, St Mary's-Manchester, England Ramsay, SAMIR, South Africa
Erlich, Cetus, USA Richards, GeneScreen, USA
Estivill, Barcellona, Spain Romeo, Gaslini-Genoa, Italy
Ferec, Brest, France Rowley, Rochester, USA
Ferrari, Milano, Italy Rozen, Montreal Children, Canada
Godet, Villeurbanna, France Scheffer,UGroningen,TheNetherlands
Goossens, Creteil, France Schmidtke, IHG, Berlin
Graham, Belfast, N Ireland Schwartz, U Copenhagen, Denmark
Gruenert, UCSF, USA Sebastio, Naple, Italy
Halley, Rotterdam, The Netherlands Seltzer, U Colorado, USA
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 Tümmler, Hannova, West Germany
Kalaydjieva, Sofia, Bulgaria Verellen-Dumoulin,Bruxelles,Belgium
Kant, U Penn, USA Williamson,St Mary'sLondon,England
FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 7
NEWSLETTER #11, March 30, 1990
1. Cuppens, Marynen and Cassiman have found a mutation in exon 9 at amino acid position 458 (G458V).
2. Kobayashi and Beaudet have identified a mutation in exon 22 (G1349D). The mutation involves a change from G to A at nucleotide 4178.
3. Goossens and Vidaud have reported a point mutation at nucleotide position 2670 (G to A) which results in a change from trp to stop (W864X).
The original letters are attached.
4. Kerem and Tsui have found a putative splice mutation in front of exon 11. This mutation is located at the last nucleotide of the intron before exon 11; it is named "529-1G->A". The mutation may be detected with the following ASO's: normal = 5'-TTT GGT AAT AGG ACA TCT CC-3'; mutant ASO = 5'- TTT GGT AAT AAG ACA TCT CC-3'. The washing conditions after hybridization are 5xSSC twice for 10 min at room temp, 2xSSC twice for 30 min at 47[[ring]]C for the mutant and 2xSSC twice for 30 min at 48[[ring]]C for the normal ASO. We have only 1 single example from an Arabic patient and there is no haplotype data. The mutation is not found in 5 other Arabic, 21 Jewish, and 41 Canadian CF chromosomes, nor in 13 normal chromosomes.
5. A draft of the joint report on [[Delta]]F508 is attached. I change my mind about the listing of authors; the names are included in the table instead of in a footnote. Please comment and let me know if there are any mistakes. Another draft will be sent to your next Tuesday and the final draft will be sent off next Wednesday (April 4) to Am.J.Hum.Genet. For the groups marked by *****, please send in more details (I might have lost your recent report).
6. Since many consortium members will be present at the Genova meeting, we plan to have a small meeting on issues related to membership, such as duties and privilages of members, confidentiality of data and publication.