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
FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 11
NEWSLETTER #33, April 11, 1991
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.