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: 13
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NEWSLETTER #34, May 10, 1991
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1. Ferec, Guillermit, Quere and Verlingue report a C insertion after nucleotide position 3898 in exon 20, creating a frameshift mutation (3898insC). The same group also report a sequence variation at nucleotide position 4002 in exon 20; there is no change in the encoded amino acid (proline) becasue the A to G change is at the third position of the codon.
2. Cutting, Curristin, Graham, Hill, Goon, and Nevin report a G to A substitution at nucleotide position 3849, which corresponds to the last nucleotide of exon 19; it is suggested as a possible splice mutation.
3. Baranov reports a G to A substitution at nucleotide position 1642. It would cause an amino acid change from glu to lys (E504K). There is, however, a discrepancy in his letter, which indicates that the amino acid change would be glu to Gln. Baranov could not be readily reached.
4. Graham, Goon, Hill and Nevin report a T deletion in the T track at nucleotide position 557-561 in exon 4 (557delT).
5. Fanen, Ghanem and Goossens report 3 mutations in exon 2: 241delAT, D44G (A to G substitution), D44V (A to T substitution).
6. Bozon and Tsui report a complex mutation in exon 13. This mutant allele has a single nucleotide deletion from a row of 7 A (position 2178 to 2184) and an A to G substitution at nucleotide position 2183 (or 2184). The complex mutation was confirmed by cloning and named 2184delA. It is found in a PI patient whose other CF mutation is unknown; it is not found in 44 other non-[[Delta]]F508 alleles sequenced. This mutation may be detected by the oligonucleotide 5'-AGA TTG (T or C) TTT TTG TTT CTG-3'; the normal control is 5'-AGA TTG TTT TTT TGT TTC TG-3'. Washing for the control should be done at 53[[ring]] and that for the mutant is at 49[[ring]].
7. A list of all the mutations reported to date is attached. An update of the mutation screening table was sent off via regular mail on April 23. If you do not receive it within a reasonable amount of time, please let me know.
8. 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