NEWSLETTER #56, July 23, 1993
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1. Summary of CF mutations:
Name Nucleotide Exon Consequence CFTR Reference
change domain
182delT deletion of T 1 frameshift S. Shackleton, A. Harris
at 182 (June 7)
F87L T->C at 391 3 Phe->Leu at 87 TM1 T. Bienvenu, S.
Bousquet, N. Morral, N.
Fonknechten, J.C.
Kaplan, C. Beldjord
(June 7)
W496X G->A at 1619 10 Trp->Stop at 496 NBF1 A. Balassopoulou (June
17)
W361R T->C at 1213 7 Trp->Arg at 361 T. Bienvenu, S.
Bousquet, C. Herbulot,
N. Aiach, J.C. Kaplan,
C. Beldjord (June 22)
R31C C->T at 223 2 Arg->Cys at 31 B. Costes, N. Ghanem, M.
Goossens (June 25)
3120G->A G->A at 3120 16 splice mutation? TM9 J. Zielenski, D.
Markiewicz, L.-C. Tsui
(June 25)
4040delA deletion of A 21 frameshift NBF2 I. Greil, K. Wagner, W.
at 4040 Rosenkranz (June 28)
Q2X C->T at 136 1 Gln->Stop at L. Kalaydjieva, A.
(together codon 2 Savov, C. Ferec, I
with R3W?) Quere, C. Verlingue, B.
Mercier (June 29)
R3W A->T at 139 1 Arg->Trp at codon L. Kalaydjieva et al.
(together 3 (as above)
with Q2X?)
905delG deletion of G 6b frameshift C. Ferec, I Quere, C.
at 905 Verlingue, O. Raquenes,
H. Guillermit, B.
Mercier (June 29)
R347C C->T at 1171 7 Arg->Cys at 347 TM6 C. Ferec et al. (as
above)
R258G G->A at 904 6b Arg->Gly at 358 C. Ferec et al. (as
above)
A800G C->G at 2531 13 Ala->Gly at 800 R C. Ferec et al. (as
above)
175delC deletion of C 1 frameshift C. Ferec et al. (as
at 175 above)
G314R G->C at 1072 7 Gly->Arg at 314 TM5 S. Nasr, T. Strong, L.
Smit, F. Collins (July 1)
3041delG deletion of G 16 frameshift S. Shackleton, A. Harris
at 3041 (July 7)
K14X A->T at 172 1 Lys->Stop at 14 C. Ferec, C. Verlingue,
I. Quere, O. Raguenes,
M.P, Audrezet, H.
Guillermit, B. Mercier
(July 8)
D1377H G->C at 4261 22 Asp->His at 1377 NBF2 B. Coates, N. Ghanem, M.
Goossens (July 8)
3195del6 deletion of 17a deletion of TM10 M. Claustres, M.
AGTGAT from Val1022 and Laussel, M. Desgeorges,
3195 to 3200 Ile1023 G. Razakatzara (July 12)
1215delG deletion of G 7 frameshift M. Claustres et al. (as
at 1215 above)
3271+18C->T C->T at intron splice mutation? M. Claustres et al. (as
3271+18 17a above)
2423delG deletion of G 13 frameshift R M. Claustres, M.
at 2423 Laussel, M. Desgeorges,
G. Razakatzara (July 16)
W79R T->C at 367 3 Trp->Arg at 79 M. Macek, A. Hamosh,
C.L. Davis, M. Anvret,
G.R. Cutting July 19)
3120+1G->A G->A at 3120+1 intron 16 splice mutation TM9 M. Macek et al. (as
above)
2. DNA sequence polymorphisms/variations in the coding region
Nucleotide position Amino acid change Exon Reference 3032 (T or C) Leu or Ser at 967 15 M. Claustres (July 1)
3. Consortium report
It was suggested by many members a while ago that the Consortium should publish a summary of the observed frequencies of different CF mutations around the world. It is obviously difficult to show data for all 300 mutations but, as a compromise, I think we can squeeze [[Delta]]F508 and the next most frequent 20 or so mutations in one single table. Since the last time we collected screening data was over a year ago, there has to be some changes since then. To obtain the up to date information, I would like to ask each member to submit the data again. Although we would list only the top 20 or so mutations, we need to collect data for the top 30 mutations. In addition, it may also be useful to include a second table in the report listing some of the mutations that are frequent in subpopulations. As an arbitruary cut-off, please list those mutations that occur more than 5% of the total in your population.
If not all mutations were screened in the entire study population, it is reasonable to list the closest number (usually that done for [[Delta]]F508) as a rough estimate. Please leave a blank if the specific mutation was not tested.
The proposed title for the final report is "Population variation of cystic fibrosis mutations". The "author" of the report will be "The Cystic Fibrosis Genetic Analysis Consoritum". Names of contributors from individual laboratories will be listed in the table. A sample report is attached; the bulk of the data is derived from the last report distributed on June 4, 1992.
Please send in your data, revised numbers and corrections before July 15, 1993.
In order to save space, we would like to limit the number of authors from each data set to three and the name of affiliated institute to one (that belong to the first author). If any of the data are cited from published reports, please include the reference(s) in a foot note.
4. General Meeting
There are two possibility of having this year's General Meeting:
a) The American Society of Human Genetics Meeting in New Orleans (Oct 6-9) or
b) The North American CF Conference in Dallas (Oct 13-16); or
c) The current format is fine; no meeting necessary.
I would welcome any helpful suggestions.
Best wishes,