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
FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 10
NEWSLETTER #35, June 14, 1991
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.