NEWSLETTER #53, February 26, 1993

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1. Mutation reports:

Name           Amino acid change   Nucleotide change      Exon      Reference                    
                                                                                                 
Q525X          Gln->Stop at 525    C->T at 1705           10        Shackleton & Harris (Jan     
                                                                    28)                          
M1K            Met->Lys at codon   T->A at 134            1         M. Claustres, J.F. Culard,   
               1                                                    M. Laussel, G. Razakatzara   
                                                                    (Jan 31)                     
M1V            Met->Val at codon   A->G at 133            1         J. Cheadle & L. Meredith     
               1                                                    (Feb 4)                      
G1249E         Gly->Glu at 1249    G->A at 3878           20        K. Wagner, I. Greil, W.      
                                                                    Rosenkranz (Feb 4)           
4005+1GT->TG   splice mutation     GT->TG at 4005+1       intron    Wagner et al. as above       
                                                          20        (Feb 4)                      
936delTA       frameshift          TA deletion from 936   6b        M. Chillon, J. Giménez, T.   
                                                                    Casals, V. Nunes, X.         
                                                                    Estivill (Feb 5)             
L327R          Leu->Arg at 327     T->G at 1112           7         M. Ravnik-Glavac, D.         
                                                                    Glavac, M. Dean (Feb 7)      
3056delGA      frameshift          GA deletion from 3056  16        M. Schwartz, A-L. Palle,     
                                                                    G. Vedel, P. Larsen (Feb     
                                                                    12)                          
296+12T->C     splice mutation?    T->C at 296+12         intron 2  H. Cuppens, P. Marynen,      
                                                                    J.J. Cassiman, M. Scharwz,   
                                                                    G. Malone, M. Super (Feb     
                                                                    18)                          
1717-8G->A     splice mutation?    G->A at 1717-8         intron    L. Kalaydjieva, A. Savov,    
                                                          10        A. Jordanova, C. Ferec, I.   
                                                                    Quere, M.P. Audrezet, B.     
                                                                    Mercier (Feb 19)             
Q493R          Gln->Arg at 493     A->G at 1610           10        Kalaydjieva et al. as        
                                                                    above (Feb 19)               
G149R          Gly->Arg at 149     G->A at 577            4         C. Ferec, I. Quere, M.P.     
                                                                    Audrezet, C. Verlingue, O.   
                                                                    Raguenes, H. Guillermit,     
                                                                    B. Mercier (Feb 19)          
541del4        frameshift          4 bp deletion from     4         Ferec et al. as above (Feb   
                                   541                              19)                          
624delT        frameshift          deletion of T at 624   5         Ferec et al. as above (Feb   
                                                                    19)                          
3007delG       frameshift          deletion of G at 3007  15        Ferec et al. as above (Feb   
                                                                    19)                          
4172delGC      frameshift          deletion of GC from    22        Ferec et al. as above (Feb   
                                   4172                             19)                          
3271+1G->A     splice mutation     G->A at 3271+1         intron    Ferec et al. as above (Feb   
                                                          17a       19)                          
D579G          Asp->Gly at 579     A->G at 1868           12        M. Ferrari, R. Bordoni, E.   
                                                                    Belloni, L. Cremonesi (Feb   
                                                                    22)                          

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

3499+45 (T or C)      intron 17b                              J. Zielenski, D.           
                                                              Markiewicz, L.-C. Tsui     
                                                              (Feb 25)                   

3. An updated list of CF mutations will be published next month.

Best wishes,