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, USA 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 #13, April 5, 1990


Dear members,

1. The Consortium report on [[Delta]]F508 was sent off to Am. J. Hum. Genet this morning. There were a few minor changes since the last draft. Special thanks to those who helped in proofreading the numbers. I guess we should cite this work as "Worldwide Survey of the [[Delta]]F508 Mutation- Report from the Cystic Fibrosis Genetic Analysis Consortium. Am. J. Hum. Genet. (submitted)".

2. Osborne L, Knight D, Santis G and Hodson ME have found a mutation (N1303K) in exon 20 of the CF gene. Their letter is attached.

3. The intron sequences flanking exon 12 from Zielensky J and Tsui L-C are attached. The sequences suitable for PCR primers are: 12i-5 (5'-GTG AAT CGA TGT GGT GAC CA-3') and 12i-3 (5'-CTG GTT TAG CAT GAG GCG GT-3').

4. Kerem B, Zielensky J, Bozon D and Tsui L-C have also detected a T to A change at nucleotide position 1820 in exon 12. This switch would result in a change from Tyr to Asn at amino acid position 563 (Y563N). It is found in a single family with 2 PS patients but the mutation in the other chromosome is unknown. We think Y563N is probably a missense mutation because (1) the T to A change is not found in 59 other CF chromosomes, with 8 having the same haplotype (IIa) and 30 having [[Delta]]F508; and (2) this alteration is not found in 54 normal chromosomes, with 39 having the IIa haplotype. Unfortunately, the amino acid change is not drastic enough to permit a strong argument. This putative mutation can be detected by ASO hybridization with a normal (5'-AG CAG TAT ACA AAG ATG C-3') and a mutant (5'-AG CAG TAA ACA AAG ATG C-3') oligonucleotide probe. The washing condition is 54[[ring]]C with 2xSSC.

Best regards,