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



NEWSLETTER #11, March 30, 1990


Dear members,

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.

Best regards,

Lap-Chee Tsui