TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM
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
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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
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Kant, U Penn, USA Williamson,St Mary'sLondon,England
FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 5
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.