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




NEWSLETTER #34, May 10, 1991


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