NEWSLETTER #48, August 19, 1992

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1. Mutation reports:

Name           Amino acid change   Nucleotide change      Exon      Reference                    
                                                                                                 
3601-111G->T   Splice mutation?    G->T at 3601-111       intron    X. Estivill, M. Chillón,     
                                                          18        T. Casals, V. Nunes (July    
                                                                    22)                          
4382delA       Frameshift          deletion of A at 4382  24        M. Claustres, M.             
                                                                    Desgeorges, P. Kjellberg     
                                                                    (July 31)                    
K68N           Lys->Asn at 68      A->T at 336            3         T. Dörk, B. Tümmler (Aug     
                                                                    11)                          
R75X           Arg->Stop at 75     C->T at 355            3         T. Dörk, B. Tümmler (Aug     
                                                                    11)                          
405+1G->A      Splice mutation     G->A at 405+1          intron 3  T. Dörk, B. Tümmler (Aug     
                                                                    11)                          
I1005R         Ile->Arg at 1005    T->G at 3146           17a       T. Dörk, B. Tümmler (Aug     
                                                                    11)                          
4218insT       Frameshift          insertion of T after   22        H. Cuppens, P. Marynen,      
                                   4218                             J.J. Cassiman (Aug 11)       
M1101K         Met->Lys at 1101    T->A at 3434           17b       J. Zielenski, D.             
                                                                    Markiewicz, T.M. Fujiwara,   
                                                                    K. Klinger, K. Morgan,       
                                                                    L.-C. Tsui (Aug 12)          
W57X           Trp->Stop at 57     G->A at 302            3         C. Ferec, I. Quere, B.       
                                                                    Mercier, M.P. Audrezet, H.   
                                                                    Guillermit, C. Verlingue     
                                                                    (Aug 17)                     
Q685X          Gln->Stop at 685    C->T at 2185           13        C. Ferec, I. Quere, B.       
                                                                    Mercier, M.P. Audrezet, H.   
                                                                    Guillermit, C. Verlingue     
                                                                    (Aug 17)                     
Q1313X         Gln->Stop at 1313   C->T at 4069           21        C. Ferec, I. Quere, B.       
                                                                    Mercier, M.P. Audrezet, H.   
                                                                    Guillermit, C. Verlingue     
                                                                    (Aug 17)                     
3860ins31      Frameshift          31 bp insertion        20        M. Chillón, V. Nunes, T.     
                                   after 3860                       Casals, X. Estivill (Aug     
                                                                    17)                          
W1098R         Trp->Arg at 1098    T->C at 3424           17b       J. Zielenski, D.             
                                                                    Markiewicz, L.-C. Tsui       
                                                                    (Aug 17)                     
E1104X         Glu->Stop at 1104   G->T at 3442           17b       J. Zielenski, D.             
                                                                    Markiewicz, L.-C. Tsui       
                                                                    (Aug 17)                     
1989+5G->T     Splice mutation?    G->T at 1989+5         intron    J. Zielenski, D.             
                                                          12        Markiewicz, L.-C. Tsui       
                                                                    (Aug 17)                     

2. DNA sequence polymorphism elsewhere in the CFTR gene:

Description           Location                                Reference                  
                                                                                         
3121-93 (12 or 13A)   intron 16                               D. Glavac, M.              
                                                              Ravnik-Glavac, R. Komel,   
                                                              M. Dean (July 25)          

3. Correction: The nucleotide change for mutation A534E should be C->A at position 1733 (NL#46); not C->T; 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 at the Conference.

Best regards,