CF Genetic Analysis Consortium NEWSLETTER #59- November 5, 1993


1. This issue of Newsletter is distributed by mail for two reasons. First, The bill for my FAX machine was over $7,000 for September. There seems to be a change in the rate recently. Before we find out further details, I decided to try our postal service. The second reason is obvious- we have too many pages this time.

2. Summary of CF mutations:

Name           Nucleotide      Exon       Consequence            Reference                         
R553G          C->G at 1789    11         Arg->Gly at 553        Férec C, Quere I, Verlingue C,    
                                                                 Audrezet MP, Raguenes O,          
                                                                 Guillermit H, Mercier B (June 7)  
1806delA       deletion of A   11         frameshift             Férec et al. (June 7)             
               at 1806                                                                             
D572N          G->A at 1846    12         Asp->Asn at 572        Férec et al. (June 7)             
175insT        insertion of    1          frameshift             Schwartz M, Larsen P, Palle AL,   
               T after 175                                       Vedel G (Sept 3)                  
284delA        deletion of A   2          frameshift             Schwartz et al. (Sept 3)          
               at 284                                                                              
T388X          AC->TA at 1294  8          Thr->Stop at 388       Schwartz et al. (Sept 3)          
1571delG       deletion of G   10         frameshift             Schwartz et al. (Sept 3)          
               at 1571                                                                             
3129del4       deletion of 4   17a        frameshift             Schwartz et al. (Sept 3)          
               bp from 3129                                                                        
185+4A->T      A->T at 185+4   intron 1   splicing               Claustres M, Culard JF,           
                                          mutation? (CBAVD)      Desgeorges M, Razakatzara G       
                                                                 (Sept 6)                          
712-1G->T      G->T at 712-1   intron 5   splicing mutation      Chillón M, Nunes V, Casals T,     
                                                                 Estivill X (Sept 9)               
1342-11TTT->G  TTT->G at       intron 8   splicing mutation?     Dörk T, Tümmler B (Sept 9)        
P5L            C->T at 146     1          Pro->Leu at 5          Chillón M, Nunes V, Casals T,     
                                                                 Estivill X (Sept 14)              
1811+1.2kbA->  A->G at         intron 11  splicing mutation      Chillón M, Dörk T, Nunes V,       
G              1811+1.2kb                                        Casals T, Estivill X (Oct 4)      
L227R          T->G at 812     6a         Leu->Arg at 227        Ghanem N, Costes B, Girodon E,    
                                                                 Martin J, Goossens M (Oct5)       
Y109C          A->G at 458     4          Tyr->Cys at 109        Holmberg L, Schaedel C (Oct 8)    
G1249R         G->A at 3877    20         Gly->Arg at 1249       Scheffer H, Dijlstra D-J (Oct 8)  
-741T->G       T->G at -741    5'         promoter mutation?     Bienvenu T, Cazeneuve C, Kaplan   
                               upstream                          JC, Beldjord C (Oct 8)            
1013delAA      deletion of     7          frameshift             Nasr S, Strong T, Collins F       
               AA from 1013                                      (Oct 11)                          
R709X          C->T at 2257    13         Arg->Stop at 709       Nicholis E, Bonizzato A,          
                                                                 Cabrini G (Oct 11)                
M1137V         A->G at 3541    18         Met->Val at 1137       Zielenski J, Markiewicz D, Tsui   
                                                                 L-C (Oct 15)                      
3600G->A       G->A at 3600    18         splicing mutation?     Zielenski et al. (Oct  15)        
4006-61del14   deletion of     intron 20  splicing mutation?     Friedman K, Wood B, Burch L,      
               14 bp from                                        Heim R, Silverman L (Nov 3)       
               4006-61 to                                                                          

3. DNA sequence polymorphisms/variations in the coding region

Nucleotide position   Amino acid change          Exon    Reference                  
2858G/T               Ser or Ile at 909          15      Schwartz et al. (Sept 3)   

4. DNA sequence polymorphism elsewhere in the CF gene

Description           Location                                Reference                  
1717-19T/C            T or C at 1717-19 of intron 10          Férec et al. (June 7)      

5. The report of June 7 from Férec et al was inadvertently omitted in the previous report. I apologize for any inconvenience.

6. A copy of the CF mutation table is attached. Please let me know any updates of the information in the table.

7. A copy of our mutation frequency survey is also attached. Please check the entries carefully and answer the queries.

8. How many of you have e-mail? Please send me a note; perhaps we can do some of communications by e-mail. My address is cfdata@sickkids.on.ca

Best wishes,