NEWSLETTER #47, July 20, 1992


1. Mutation reports:

Name           Amino acid change   Nucleotide change      Exon      Reference                    
3667ins4       Frameshift          insertion of TCAA      19        G. Novelli, F. Sangiuolo,    
                                   after 3667                       S. Lo Cicero, P.             
                                                                    Maceratesi, B.               
                                                                    Dallapicolla (June 3)*       
D836Y          Asp->Tyr at 836     G->T at 2638           14a       N. Ghanem, M. Goossens       
                                                                    (June 29)                    
876-10del8     (see NL#46 and                                       N. Ghanem, M. Goossens       
               note below)                                          (June 29)                    
W57G           Trp->Gly at 57      T->G at 301            3         M. Ferrari, L. Cremonesi,    
                                                                    E. Belloni (July 6)          
R74W           Arg->Trp at 74      C->T at 352            3         M. Clautres, P. Kjellberg,   
                                                                    M. Desgeorges (July 13)      
E730X          Glu->Stop at 730    G->T at 2320           13        H. Cuppens, P. Marynen,      
                                                                    J.J. Cassiman (July 15)      
G103X          Gly->Stop at 103    G->T at 439            4         E. Edkins, K. Gray, D.       
                                                                    Norman (July 16)             
2907delTT      Frameshift          deletion of TT from    15        M. Ravnik-Glavac, D.         
                                   2907                             Glavac, R. Komel, M. Dean    
                                                                    (July 16)                    

* The delay in publishing this mutation is because the original letter was lost somewhere between Rome and Toronto in the FAX line.

2. DNA sequence polymorphism elsewhere in the CFTR gene:

Description           Location                                Reference                  
405+46 (G or T)       intron 3                                M. Claustres (July 20)     

3. Correction: The correct name for the 876-5T->G mutation (NL#46) should be 876-10del8 (see letter from Ghanem and Goossens); my sincere apology.

4. The next general meeting for the consortium will be held in Dublin during the International CF Conference, September 22-27, 1992. The exact time and place will be announced later.

5. Since the switch to our new telephone system, I have been notified by some members that there were occasional problems with our FAX machine. In order to find out what is wrong, please let me know immediately if you have any problems. Also, please note that our new FAX number is (1) 416-813-4931. The old numbers 598-7505 and 591-4931 are no longer in service.

Best regards,

Lap-Chee Tsui