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NEWSLETTER #55, June 5, 1993

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1. Mutation reports:

Name           Amino acid change   Nucleotide change      Exon      Reference                    
                                                                                                 
S912X          Ser->Stop at 912    C->A at 2867           15        Leoni et al. (NL#54)         
3724delG       frameshift          deletion of G at 3724  19        T. Bienvenu, N.              
                                                                    Fonknecten, F.               
                                                                    Desclaux-Arramond, J.C.      
                                                                    Kaplan, C. Beldjord (Mar     
                                                                    31)                          
N66S           Asn->Ser at 66      A->G at 328            3         S. Cashman, M. De Arce, J.   
                                                                    Hayes (April 22)             
V456F          Val->Phe at 456     G->T at 1498           9         T. Dörk, B. Tümmler (Apr     
                                                                    29)                          
406-1G->T      splicing mutation   G->T at 406-1          intron 3  T. Bienvenu, N.              
                                                                    Fonknecten, F.               
                                                                    Desclaux-Arramond, J.C.      
                                                                    Kaplan, C. Beldjord (Apr     
                                                                    30)                          
A561E          Ala->Glu at 561     C->A at 1814           12        A. Duarte, C. Barreto, J.    
                                                                    Lavinha (May 4)              
R75L*          Arg->Leu at 75      G->T at 356            3         B. Costes, N. Ghanem, M.     
                                                                    Goossens (May 5)             
E1409V         Glu->Val at 1409    A->T at 4358           23        M. Claustres, M. Giensily,   
                                                                    M. Laussel, G. Razakaizara   
                                                                    (May 6)                      
4271delC       frameshift          deletion of C at 4271  23        S. Shackleton, A, Harris     
                                                                    (May 11)                     
M1210I*        Met->Ile at 1210    G->A at 3762           19        T. Nukiwa, K. Seyama (May    
                                                                    13)                          
Q1352H*        Gln->His at 1352    G->C at 4188           22        T. Nukiwa, K. Seyama (May    
                                                                    13)                          
Q1100P         Gln->Pro at 1100    A->C at 3431           17b       V. Nunes, A. Palacio, X.     
                                                                    Estivill, C. Ferec, M.P.     
                                                                    Audrezet, B. Mercier (May    
                                                                    17)                          
H949Y          His->Tyr at 949     C->T at 2977           15        B. Costes, N. Ghanem, E.     
                                                                    Girodon, M. Goossens (May    
                                                                    17)                          
297-3C->T      splicing mutation   C->T at 297-3          intron 2  T. Bienvenu, N.              
               (?)                                                  Fonknecten, F.               
                                                                    Desclaux-Arramond, J.C.      
                                                                    Kaplan, C. Beldjord (May     
                                                                    18)                          
711+5G->A      splicing mutation   G->T at 711+5          intron 5  P. Gasparini, L.             
                                                                    Bisceglia, A. Savoia, L.     
                                                                    Zelante (May 18)             
3791delC       frameshift          deletion of C at 3791  19        M. Macek, Jr., C.L. Davis,   
                                                                    A. Hamosh, G.R. Cutting      
                                                                    (May 18)                     
S1159P         Ser->Pro at 115p    T->C at 3607           19        Macek et al (as above)       
V1212I         Val->Ile at 1212    G->A at 3766           19        Macek et al (as above)       
V317A          Val->Ala at 317     T->C at 1082           7         C. Ferec, I. Quere, C.       
                                                                    Verlingue, M.P. Audrezet,    
                                                                    O. Raguenes, H.              
                                                                    Guillermit, B. Mercier       
                                                                    (May 18)                     
T582R          Thr->Arg at 582     C->G at 1877           12        T. Casals, A. Palacio, V.    
                                                                    Nunes, X. Estivill, C.       
                                                                    Ferec, M.P. Audrezet (May    
                                                                    19)                          
406-10C->G     splicing mutation   C->G at 406-10         intron 3  I. Greil, K. Wagner, W.      
               (?)                                                  Rosenkranz (May 27)          
G126D          Gly->Asp at 126     G->A at 509            4         I. Greil, K. Wagner, W.      
                                                                    Rosenkranz (May 27)          
I175V          Ile->Val at 175     A->G at 655            5         M. Claustres, M. Laussel,    
                                                                    G. Razakaizara (May 27)      

* Atypical CF patients

2. DNA sequence polymorphisms/variations in the coding region

Nucleotide position   Amino acid change          Exon    Reference                  
                                                                                    
676 (A or G)          Ser->Gly at 182            5       M. Claustres, M.           
                                                         Laussel, G. Razakaizara    
                                                         (May 27)                   
2092 (A or G)         Ser->Gly at 654            13      M. Claustres, M.           
                                                         Laussel, G. Razakaizara    
                                                         (May 27)                   
345 (T or C)          Asn at 71 (no change)      3       M. Claustres, M.           
                                                         Laussel, G. Razakaizara    
                                                         (May 27)                   

3. DNA sequence polymorphisms/variations in the non-coding region

4700delT              exon 24                                 K. Grade, I. Grunewald,    
                                                              C. Coutelle (April 29)     
1812-108 (T or C)     intron 12                               M. Claustres, M.           
                                                              Laussel, G. Razakaizara    
                                                              (May 27)                   

4. The 4005+1GT->TG mutation in intron 20 is proven to be a sequencing artifact by Greil et al. (May 27).

5. Please add S912X to your list of mutations reported in NL#54. My apology.

Best wishes,