Amos, Boston U, USA Kitzis, CHU-Paris, France

Barker, U Alabama Birm, USA Klinger, Integ Genet, USA

Barranger, Los Angeles, USA Knight, London, England

Barton, Cambridge, England Lavinha, Lisboa Codex, Portugal

Beaudet, Baylor, USA Lissens, Vrije U Brussels, Belgium

Boué, Paris, France Loukopoulos, Athens, Greece

Bowcock, Stanford, USA Lucotte, College de France

Cao, U Cagliari, Italy Malcolm, ICH-London, England

Carbonara, Torino, Italy Malik, Basler-Basel, Switzerland

Cassiman, U Leuven, Belgium Mao, Collab Res, USA

Claustres, Montpellier, France McIntosh, WGH-Edinburgh, Scotland

Collins, U Michigan, USA Morel, Lyon, France

Cutting, Johns Hopkins, USA Morgan, McGill, Canada

Dallapiccola, Roma, Italy Naylor, UT San Antonio, USA

De Arce, Dublin, Ireland Olek, U Bonn, West Germany

Dean, NCI Frederick, USA Orr, U Minnesota, USA

Desnick, Mount Sinai, New York, USA Pignatti, U Verona, Italy

Edwards, Oxford, England Ramsay, SAMIR, South Africa

Elles, St Mary's-Manchester, England Richards, GeneScreen, USA

Erlich, Cetus, USA Romeo, Gaslini-Genoa, Italy

Estivill, Barcelona, Spain Rowley, Rochester, USA

Ferec, Brest, France Rozen, Montreal Children, Canada

Ferrari, Milano, Italy Scheffer,UGroningen,TheNetherlands

Godet, Villeurbanna, France Schmidtke, IHG, Berlin

Goossens, Creteil, France Schwartz, U Copenhagen, Denmark

Graham, Belfast, N Ireland Sebastio, Naples, Italy

Gruenert, UCSF, USA Seltzer, U Colorado, USA

Halley, Rotterdam, The Netherlands Spona, Vienna, Austria

Harris, Guy's-London, England Super, Royal Manchester, England

Highsmith, NC Mem Hosp, USA Thibodeau, Rochester, USA

Horst, Münster, West Germany Tümmler, Hannova, West Germany

Jaume-Roig, Son Dureta, Spain Verellen-Dumoulin,Bruxelles,Belgium

Kalaydjieva, Sofia, Bulgaria Willems, U Antwerp, Belgium

Kant, U Penn, USA Williamson,St Mary'sLondon,England





NEWSLETTER #15, April 29, 1990


1. Thilo Dörk, Heiner Wilfes and Burkard Tümmler report a mutation in exon 11 (R553Q); see letter attached.

2. Bruno Dallapiccola, Giuseepe Novelli and Federica Sangiuolo report another mutation in exon 11; it involves nucleotide position 1777; the change of A to C would result in change of the highly conserved ser549 to Arg. To distinquish this mutation from the other S549R reported by Kerem et al, we need to include the nucleotide changes, ie. S549R(1777A->C) and S549R(1779T->G). So far 4 mutations have been found associated with this codon.

3. Kerem, Zielensky, Bozon and Tsui report an amino acid change in exon 12 (P574H). The C at nucleotide position 1853 is changed to A. Although the amino acid pro at this position is not highly conserved across different ATP-binding folds, his seems to be a drastic substitution. This change is not detected in 52 other CF chromosomes nor 15 normal chromosomes, 4 of which have the same group IV haplotype. Base on these arguments, we think P574H is a mutation, but we hope others may provide additional supporting data. We do not have any more group IV CF chromosomes. To detect this putative mutation, one may use the following ASOs: 5'-GAC TCT CCT TTT GGA-3' for the normal and 5'-GAC TCT CAT TTT GGA-3' for the mutant. Washing should be done at 47[[ring]] in 2xSSC.

4. J.J. Cassiman has noted that amplification of exon 9 using the described primers does not yield a 561 bp fragment as expected but a fragment larger than 603 bp. Anyone else has the same experience? He also found 2 errors in the mutation listing; the correct version should be S549R: T->G at 1770 and Y563N: T->A at 1819.

5. The exon 14a mutation reported by Goossens and Vidaud in Newsletter #11 should be W846X. I recorded it as W864-- my sincere apology.

6. There are several errors in the sequence reported for the 3' flanking intron of exon 20; thanks to J.J. Cassiman and Pier Franco Pignatti and Paolo Gasparini; we have also confirmed these mistakes; the correct sequence should read:


7. Pignatti has noted a sequence variation in exon 20: nucleotide position 3867 can be either A or G; it is found in 5 out of 14 non-[[Delta]]F CF chromosomes in the Italian population; there is no amino acid change (Arg1245).

8. A short report on the European Community effort on CF molecular genetics is attached.

9. The new FAX number for Ken Morgan is (1)514-398-8245; the new FAX number for Jürgen Horst is (49)251-836960.