CF Genetic Analysis Consortium NEWSLETTER #59- November 5, 1993
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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
change
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)
1342-11
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
4006-47
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,