CF Genetic Analysis Consortium NEWSLETTER #60- January 7, 1994


Happy New Year! We just broke the 400 mark! (Total no. of mutation entries is 404)

1. I have received several feedbacks about sending the Newsletter by mail. It seems to be generally acceptable. I am still trying to find out why the cost of sending fax went up all in a sudden.

2. Summary of CF mutations:

Name           Nucleotide      Exon       Consequence           Reference                         
V1397E         T->A at 4322    23         Val->Glu at 1397      Petreska L, Koceva S, Efremov     
                                                                GD (Nov 5)                        
711+3A->G      A->G at 711+3   intron 5   splicing              Petreska et al (Nov 5)            
-471delAGG     deletion of     5'         promoter              Grade K, Grunewald I, Hanke R,    
               AGG from -471   flanking   mutation?             Coutelle C (Nov 12)               
[[Delta]]L126  deletion of     20         deletion of Leu       Hermans C, Halley D, van den      
0              ACT from                   at 1260 or 1261       Ouweland A (Nov 16)               
               either 3909                                                                        
               or 3912                                                                            
V520I          G->A at 1690    10         Val->Ile at 520       Malone G, Haworth A, Schwarz M,   
                                                                Super M (Nov 17)                  
2711delT       deletion of T   14a        frameshift            Lissens W, Bonduelle M,           
               at 2711                                          Liebaers I, Férec C, Quere I,     
                                                                Audrezet MP, Mercier B (Nov 18)   
V232D          T->A at 827     6a         Val->Asp at 232       Costes B, Ghanem N, Girodon E,    
                                          (CBAVD)               Goossens M (Nov 19)               
G1123R         G->C at 3499    17b        Gly->Arg at 1123      Wallace A, Tassabehji M (Nov 24)  
E116K          G->A at 478     4          Glu->Lys at 116       Costes B, Girodon E, Ghanem N,    
                                                                Goossens M (Nov 26)               
406-2A->C      A->C at 406-2   intron 3   splicing mutation     Costes et al (Nov 26)             
D443Y          G->A at 1459    9          Asp->Tyr at 443       Costes et al (Nov 26)             
297-28insA     insertion of    intron 2   splicing              Scheffer H, Dijkstra D-J (Nov     
               A after 297-28             mutation?             29)                               
Y917C          A->G at 2882    15         Tyr->Cys at 917       Edkins E, Creegan R (Dec 3)       
3121-2A->G     A->G at 3121-2  intron 16  splicing mutation     Macek MJr, Mackova A, Sedriks     
                                                                SE, Cutting GR (Dec 6)            
552insA        insertion of    4          frameshift            Ivaschenko TE, Bakay M, Baranov   
               A after 552                                      VS (Dec 7)                        
I1139V         A->G at 3547    18         Ile->Val at 1139      Teng H, Cuppens H, Cassiman J-J   
                                                                (Dec 13)                          
Q1412X         T->C at 4366    23         Gln->Stop at 1412     Wallace A, Tassbehji M (Dec 14)   
1341+18A->C    A->C at         intron 8   splicing              Claustres M, Romey M-C,           
               1341+18                    mutation?             Desgeorges M (Dec 17)             
G239R          G->A at 847     6a         Gly->Arg at 239       Zielenski J, Markiewicz D, Tsui   
                                                                L-C (Dec 20)                      
-816C->T       C->T at -816    5'         promoter              Bienvenu T, Cazeneuve C, Kaplan   
                               flanking   mutation?             JC, Beldjord C (Dec 22)           
L571S          T->C at 1844    12         Leu->Ser at 571       Savov A, Jordonova A,             
                                                                Angelicheva D, Kremensky I,       
                                                                Kayaydjieva (Jan3)                

3. DNA sequence polymorphisms/variations in the coding region

Nucleotide position   Amino acid change          Exon    Reference                  
2901C/T               Ala at 923 (no change)     15      Edkins E,Creegan R (Dec    

4. DNA sequence polymorphism elsewhere in the CF gene

Description           Location                                Reference                  
2752-22A/G            A or G at 2752-22 (intron 14a)          Marigo C, Bombieri C,      
                                                              Pignatti PF, Bonizzato     
                                                              A, Nicolis E, Cabrini G    
                                                              (Dec 7)                    

5. Please remove I1109T and R170G from your mutation table (see letter from M Claustres, Nov. 8).

6. M Dean, L Osborne and R. Knight are seeking collaborators to work on possible association between DQa allele and severity of lung disease (see letter). Please Mike or Dick if you are interested.

7. G Romeo, M Devoto, X Estivill and L ten Kate are looking for European collaborators to revisit the segregation distortion problem (see letter). Please contact Giovanni for proper data reporting format.

8. A revised copy of our mutation frequency manuscript is attached. I hope it is the next to final draft. Please check the entries carefully and answer the queries.

9. I have been in touch with several Consortium members by e-mail. I have asked my computer assistant to look into the possibility of having an anonymous FTP account for some of the non-confidential data items. Please send me a note (by e-mail) if you have an address; perhaps we can save some money by doing some communications by e-mail. My address is cfdata@sickkids.on.ca

Best wishes,