NEWSLETTER #58, September 3, 1993
1. Summary of CF mutations:
Name Nucleotide Exon Consequence Reference change L346P T->C at 1169 7 Leu->Pro at 346 Constantinou-Deltas CD (July 5) Y301C A->G at 1034 7 Tyr->Cys at 301 Constantinou-Deltas CD (July 23) G27E G->A at 212 2 Gly->Glu at 27 Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C (August 2) I1109T T->C at 3458 17b Ile->Thr at 1109 Claustres M, Laussel M, Desgeorges M, Razakatzara G (August 2) L1254X T->G at 3893 20 Leu->Stop at 1254 Wallace A, Tassabehji M (August 4) 4048insCC insertion of 21 frameshift Wallace A, Tassabehji M (August CC after 4048 4) L568X T->A at 1835 12 Leu->Stop at 568 Macek M, Davis CL, Hamosh A, Cutting GR (August 4) W1098X G->A at 3425 17b Trp->Stop at 1098 Macek M, Davis CL, Hamosh A, Cutting GR (August 4) Q1411X C->T at 4363 23 Gln->Stop at 1411 Costes B, Goossens M, Ghanem N (August 18) T1220I C->T at 3791 19 Thr->Ile at 1220 Costes B, Goossens M, Ghanem N (polymorphism?) (August 18) Q1238R A->G at 3845 19 Gln->Arg at 1238 Férec C, Quere I, Verlingue C, Audrezet MP, Raguenes O, Guillermit H, Mercier B (August 18) R1070W C->T at 3340 17b Arg->Trp at 1070 Macek M, Sedriks S, Kiesewetter S, Cutting GR (August 20) D1168G A->G at 3635 19 Asp->Gly at 1168 Macek M, Sedriks S, Kiesewetter S, Cutting GR (August 20) W79X G->A at 368 3 Trp->Stop at 79 Férec C, Quere I, Verlingue C, Audrezet MP, Raguenes O, Guillermit H, Mercier B (August 24) 1248+1G->A G->A at 1248+1 intron 7 splicing mutation Schwarz M, Malone G, Haworth A (August 25) G1244V G->T at 3863 20 Gly->Val at 1244 Savov A, Angelicheva D, Jordanova A, Kalydjieva L (August 30) Q207X C->T at 751 6a Gln->Stop at 207 Zielenski J, Markiewicz D, Tsui L-C (Sept 2) 875+1G->C G->C at 875+1 intron 6a splicing mutation Zielenski J, Markiewicz D, Tsui L-C (Sept 2) 2991del32 deletion of 15 frameshift Grade K, Grunewood I, Coutelle 32 bp from C (Sept 3) 2991 3171insC insetion of C 17a frameshift Grade K, Grunewood I, Coutelle after 3171 C (Sept 3)
2. DNA sequence polymorphisms/variations in the coding region
Nucleotide position Amino acid change Exon Reference 4086T/C no change (Val at 1318) 21 Claustres M, Laussel M, Desgeorges M, Razakatzara G (August 2)
3. DNA sequence polymorphism elsewhere in the CF gene
Description Location Reference 1002-56C/G C or G at position -56 of intron 6b Claustres M, Laussel M, Razakatzara G (April 17) 2790-21G/A G or A at position -21 of intron 14 Claustres M, Laussel M, Desgeorges M, Razakatzara G (August 2)
4. Malone G and Schwarz M is requesting genotype-phenotype data for E60X; anyone who wishes to contribute, please contact them by FAX +44 (61) 794 5929
5. A copy of the CF mutation table is attached. Please let me know any updates of the information in the table.
6. There is not much response about the location of this year's General Meeting. Please let me know if it is necessary to have any meetings. If it is necessary, there are two possibilities, but there is not much choice for the time slot at either locations.
(1) October 7 (Thursday) 6-7 pm, at The Annual Meeting of the American Society of Human Genetics in New Orleans; or
(2) October 14 (Thursday) 5:30-6:30, at The North American CF Conference in Dallas.
Please indicate your opinion below and return it to me by FAX.
FAX to: Lap-Chee Tsui, +1 (416) 813-6015
Suggestions for the Annual General Meeting (please choose one):
______ Everything is fine; the Consortium should continue in its current format; no meeting necessary.
______ October 7 (Thursday) 6-7 pm, at The Annual Meeting of the American Society of Human Genetics in New Orleans
______ October 14 (Thursday) 5:30-6:30, at The North American CF Conference in Dallas
Alternative contact person:
Updates of FAX number, telephone number and FULL mailing address