TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM

Amos, Boston U, USA Kant, U Penn, USA

Anvret, Stockholm, Sweden Kitzis, CHU-Paris, France

Barker, U Alabama Birm, USA Klinger, Integ Genet, USA

Barranger, Los Angeles, USA Knight, London, England

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Beaudet, Baylor, USA Lissens, Vrije U Brussels, Belgium

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, Italy Naylor, UT San Antonio, USA

De Arce, Dublin, Ireland Olek, U Bonn, West Germany

Dean, NCI Frederick, USA Orr, U Minnesota, USA

Desnick, Mount Sinai, New York, USA Pignatti, U Verona, Italy

Edwards, Oxford, England Ramsay, SAMIR, South Africa

Efremov, Skopje, Yugoslavia Richards, GeneScreen, USA

Elles, St Mary's-Manchester, England Romeo, Gaslini-Genoa, Italy

Erlich, Cetus, USA Rowley, Rochester, USA

Estivill, Barcelona, Spain Rozen, Montreal Children, Canada

Ferec, Brest, France Scheffer,UGroningen,TheNetherlands

Ferrari, Milano, Italy Schmidtke, IHG, Berlin

Godet, Villeurbanna, France Schwartz, U Copenhagen, Denmark

Goossens, Creteil, France Sebastio, Naples, Italy

Graham, Belfast, N Ireland Seltzer, U Colorado, USA

Gruenert, UCSF, USA Spona, Vienna, Austria

Halley, Rotterdam, The Netherlands Super, Royal Manchester, England

Harris, Guy's-London, England Thibodeau, Rochester, USA

Highsmith, NC Mem Hosp, USA Tümmler, Hannova, West Germany

Horst, Münster, West Germany Verellen-Dumoulin,Bruxelles,Belgium

Jaume-Roig, Son Dureta, Spain Willems, U Antwerp, Belgium

Kalaydjieva, Sofia, Bulgaria Williamson,St Mary'sLondon,England

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FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 14

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NEWSLETTER #20, June 26, 1990

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1. We have finally put together the compiled mutation screening report. It consists of 9 pages which should be assembled into a large table (3 pages x 3 pages). In each square, two numbers are given - the top one is the number of chromosomes found to have the specified mutation (identified by the methods reported in the previous newsletters); the bottom number refers to the total number of CF chromosomes screened. There are two additonal points that need to be explained:

(a) We only used the data submitted to us recently. We did not include the data that is going to appear in Am.J.Hum.Genet (the August issue) as everybody should have that already from previous newsletters. Besides, including them will make the table much larger. Perhaps we will try next time.

(b) Although I have asked for information regarding the number of CF chromosomes screened, whether or not they are limited to non-[[Delta]]F508 only, I have not distinguished the two. Including the latter information in the table will make it highly complicated, especially since some members also specifiy non-G551D, etc. In any event, most of the data are derived from non-[[Delta]]F508 chromosomes. Also, since the information is only intended for a rough guideline as to which mutation should receive a little bit more attention, I think the message is clear from the table.

Since the table contains a large volume of data, it is highly probable that we have introduced some (or many) errors. Please check your data carefully and tell us if there is any mistake. For corrections and further data, I urge every one to use the standardized table provided (many send in results for individual patients); it will greatly simplify our lives.

2. Carol Wicking have sent in the intron/exon boundary sequence for exon 2 (see attached).

3. We have reported the mutation 1717-1G>A in an earlier newsletter but haplotype for this mutation was not available. Now, Dörk, Wulbrand and Tümmler has supplied the haplotype information for this mutation (see attached).

Lap-Chee Tsui