TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM

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

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FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 10

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NEWSLETTER #35, June 14, 1991

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1. Baranov corrects his previous report of a substitution at nucleotide position 1642 (Newsletter #34). It should be G to C instead of G to A; the amino acid change should be from glu to Gln (E504Q).

2. Smit, Iannuzzi, Tsui and Collins report an insertion of A after nucleotide 2307 (2307insA). [Note: The letter was dated March 8, 1991, but it was actually received in May, possibly because of the lack of a postal code.]

3. Will, Stuhrmann and Schmidtke report an A to G substitution at nucleotide position 1651, causing an Ile to Val change at amino acid position 507 (I507V). Since it is not clear if this substitution causes CF, it is treated as a polymorphism for the time being.

4. Gasparini, Bonizzato, Dognini, Savoia and Pignatti suggest new methods for detecting R1162X, which happens to be a rather frequent mutation in Northeastern Italy (20% of non-[[Delta]]F508) and in Spain (6%). They are requesting data on frequency and geographical distribution (see letter).

5. Ferec, Quere, Verlingue and Guillermit report a sequence variation in intron 20, position 4006-199 G to A.

6. Devoto, Ronchetto and Romeo report a possible missense mutation in exon 7, a G to A transition at position 1172, changing the amino acid Arg to His in the protein (R347H). They also report a sequence variation (A to G) at postion 4374+14 in intron 23.

7. Shoshani, Bashan and Kerem report a 4-bp deletion in exon 21 (4011del4).

8. Ferrari, Cremonesi, Magnani, Gossens and Fanen report a possible splice mutation in intron 12 (1898+3 A->G).

9. Repeat announcement: In regards to the next general meeting of the consortium, there is general consensus among members of the steering committee that we should have it at the International Human Genetics Congress (which is joint with the American Society of Human Genetics) in Washington, D.C. on October 6-11. Since not every member will be attending that meeting, it would be nice to have informal gatherings at the other two meetings (ie. The European Cystic Fibrosis Conference, June 17-21, Copenhagen and The North American CF Conference, October 2-5, 1991, Dallas, Texas). I will get in touch with the organizers of the meetings to find appropriate time slots.

Best regards,

Lap-Chee Tsui