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




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