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 #18, May 19, 1990


1. Estivill and Morral report the exon/intron boundary sequences for exon 8. Their letter is enclosed.

2. Zielenski and Tsui report the exon/intron boundary sequences for exon 3 (see attached sequence).

3. Zielenski, Kerem, Bozon and Tsui report a missense mutation in exon 3. This mutation, G85E, involves a G to A transition at nucleotide position 386. It is detected in family #26, a French Canadian family classified as PI. This Gly to Glu change is associated with a group IIb haplotype. The mutation destroys a HinfI site. The PCR product derived from the 3i-5 and 3i-3 primers is cleaved by this enzyme into 3 fragment, 172, 105 and 32 bp, respectively, for the normal sequence; a fragment of 277 bp would be present for the mutant sequence. They analyzed 54 CF chromosomes, 8 from group II, and 50 normal chromosomes, 44 from group II, and did not find another example of G85E.

4. The same group also describes a polymorphism at nucleotide position 356. The more common nucleotide, G, is found to be changed to A in the father's normal chromosome in family #54. The amino acid changes from Arg to Gln.

Lap-Chee Tsui