TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM

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

Anvret, Stockholm, Sweden Kerem, Jerusalem, Israel

Baranov, Leningrad, USSR Kitzis, CHU-Paris, France

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

Barton, Cambridge, England Knight, London, England

Beaudet, Baylor, USA Komel, Ljubljiana, Yugoslavia

Boué, Paris, France Krueger, Hahnemann, USA

Cao, U Cagliari, Italy Kulozik, Univ Ulm, Germany

Carbonara, Torino, Italy Lavinha, Lisboa Codex, Portugal

Cassiman, U Leuven, Belgium Lissens, Vrije U Brussels, Belgium

Claustres, Montpellier, France Loukopoulos, Athens, Greece

Cochaux, Brussels, Belgium Lucotte, College de France

Collins, U Michigan, USA Malcolm, ICH-London, England

Coskun, Hacettepe U, Turkey Macek, Free U Berlin, Germany

Coutelle, Berlin, Germany Malik, Basler-Basel, Switzerland

Cutting, Johns Hopkins, USA Mao, Collab Res, USA

Dallapiccola, Roma, Italy McIntosh, WGH-Edinburgh, Scotland

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

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

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FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 11

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NEWSLETTER #33, April 11, 1991

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1. Lissens W, Bonduelle M and Liebaers I report a T to C substitution at codon 1255 (S1255P), nucleotide 3895 in exon 20.

2. Ferrari M, Cremonesi L, Magnani C, Romeo G, Roncheeto P, Telleria JJ, and Devoto M report a G to T substitution at nucleotide position 1885 in exon 12, resulting in a Glu to Stop change at codon 585 (E585X).

3. Shoshani T, Bashan N and Kerem B report 2 mutations in exon 7: a C to A substitution at nucleotide position 1207 changing Glu359 to Lys (Q359K), and a C to A substitution at nucleotide 1211 changing Thr360 to Lys (T360K).

4. Goossens M, Fanen P, Ghanem N and Martin J report 2 mutations in exon 17b and 1 probable splice mutation in intron 17a: W1063X, G to A at nt 3321, R1066C, C to T at nt 3328 and a A to G nucleotide substitution creating an aberrant splice acceptor site at position 3272-26.

5. Gasparini P, Bonizzato A, Dognini M, Savoia A and Pignatti PF report a frame shift mutation in exon 15, a G insertion after nucleotide 2869 (2869insG).

6. Granell R, Solera J, Carrasco S and Molano J (from Madrid, Spain) who are not members of the Consortium report an interesting mutation in exon 13: a non-frameshift 84 bp deletion spanning nucleotide 1949 to 2032 (1949del84).

7. Estivill X and Morral N report a CA microsatellite polymorphism in intron 17b.

8. Shoshani T, Bashan N and Kerem B also report that W1282X is a frequent mutation in the Ashkenazic population (approx. 36%). This information may be useful for others who are working with this population.

9. Ferrie RM, Silver A, Little S, Beards F and Mathews C report a sequence variation at nt position 621+3, A to G substitution.

The original letters for all the above reports are attached.

May I remind all members again that any secondary publication resulted from knowledge of unpublished consortium data should obtain permission from the original reporting group to publish the information before submission. Also, although the original report may be published by the time the secondary paper is submitted, an acknowledgement is still appropriate if the research is based on unpublished information. This guideline applies to mutations, any sequence information (polymorphisms) and patient description.

Best regards,

Lap-Chee Tsui