TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM
Amos, Boston U, USA Jaume-Roig, Son Dureta, Spain
Anvret, Stockholm, Sweden Kalaydjieva, Sofia, Bulgaria
Barker, U Alabama Birm, USA Kant, U Penn, USA
Barton, Cambridge, England Kitzis, CHU-Paris, France
Beaudet, Baylor, USA Klinger, Integ Genet, USA
Baranov, Leningrad, USSR Komel, Ljubljiana, Yugoslavia
Boué, Paris, France Knight, London, England
Cao, U Cagliari, Italy Krueger, Hahnemann, USA
Carbonara, Torino, Italy Lavinha, Lisboa Codex, Portugal
Cassiman, U Leuven, Belgium Lissens, Vrije U Brussels, Belgium
Claustres, Montpellier, France Loukopoulos, Athens, Greece
Cochaux, Brussels, Belgium Lucotte, College de France
Collins, U Michigan, USA Malcolm, ICH-London, England
Coskun, Hacettepe U, Turkey Malik, Basler-Basel, Switzerland
Coutelle, East Berlin Mao, Collab Res, USA
Cutting, Johns Hopkins, USA McIntosh, WGH-Edinburgh, Scotland
Dallapiccola, Roma, Italy Morel, Lyon, France
De Arce, Dublin, Ireland
Morgan, McGill, Canada
de la Chapelle, Helsinki, Finland Nukiwa, Tokyo, Japan
Dean, NCI Frederick, USA Ober, U Chicago, USA
Desnick, Mount Sinai, New York, USA Olek, U Bonn, West Germany
Edkins, Perth, Australia Orr, U Minnesota, USA
Edwards, Oxford, England Pignatti, U Verona, Italy
Efremov, Skopje, Yugoslavia Ramsay, SAMIR, South Africa
Elles, St Mary's-Manchester, England Richards, GeneScreen, USA
Erlich, Cetus, USA Romeo, Gaslini-Genoa, Italy
Estivill, Barcelona, Spain Rowley, Rochester, USA
Ferec, Brest, France Rozen, Montreal Children, Canada
Ferrari, Milano, Italy Scheffer,UGroningen,The Netherlands
Gerard, Harvard, USA Schmidtke, IHG, Berlin
Gilbert, Cornell, New York, USA Schwartz, U Copenhagen, Denmark
Godet, Villeurbanna, France Sebastio, Naples, Italy
Goossens, Creteil, France Seltzer, U Colorado, USA
Graham, Belfast, N Ireland Spona, Vienna, Austria
Halley, Rotterdam, The Netherlands Super, Royal Manchester, England
Harris, Guy's-London, England Thibodeau, Rochester, USA
Higgins, Birmingham, England Tümmler, Hannova, West Germany
Highsmith, NC Mem Hosp, USA Verellen-Dumoulin,Bruxelles,Belgium
Hood, California Inst Tech, USA Willems, U Antwerp, Belgium
Horst, Münster, West Germany Williamson,St Mary'sLondon,England
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FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 4
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NEWSLETTER #26, September 14, 1990
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1. Jones C, McIntosh and Brock report a mutation in exon 10 (C524X); see attached letter.
2. Bozon D, Zielenski J, Rininsland F, Rommens J and Tsui L-C report a sequence alteration at nucleotide position 129 where G is replaced by C (129G->C). This change is actually upstream of the proposed initiation codon, at position -4. It was first found on the father's CF chromosome in Toronto family #14 and associated with haplotype IIa. The CF children in this family are PS and the maternal CF chromosome carries [[Delta]]F508. We examined 85 non-[[Delta]]F508 CF chromosomes (including 10 from group II) and found 2 additional examples. Interestingly, these 2 chromosomes were also found in 2 unrelated PS patients with the other chromosome carrying [[Delta]]F508 but, unfortunately, their haplotype was not determined. This mutation was not detected in 51 normal chromosomes (including 43 group II). While it is not entirely clear whether 129G->C causes CF, it is possible that it reduces the expression of CFTR. There may be a mutation elsewhere in this allele, but no other change was found after sequencing over 95% of the coding and immediately flanking introns. To detect this change, ASO hybridization may be performed with N oligo (5'GCC CAG AGA CCA TGC A) and mutant oligo (5'GCC CAG ACA CCA TGC A) and washing at 49[[ring]] in 2xSSC; genomic DNA may be amplified with primers B115B and 10D.
3. The correct designaton for the mutation reported by Highsmith et al in the last issue of newsletter should be 2789+5G->A (not 2751).
4. For those members who have trouble receiving the previous Newsletters by FAX, you will receive them (issues #14-#26) in the mail shortly. If you notice any mistakes in those issues, please drop me a note. If you want a copy of the compiled issues #1-#13, please also let me know.
5. The time slot for the general meeting of the Consortium has been allocated. It will be from 8 pm to 10 pm on Thursday, October 4 (during the next International CF Congress in Arlington, Virginia, USA). The meeting room has yet to be determined.
6. I will try to compile a last minute report about the population distribution of each mutation before the general meeting. Please send in your data as soon as possible.
Best regards,
Lap-Chee Tsui
Standardized population screening report to the consortium
From (Name of principal investigator): ___________________________
Patient population (Location / ethnic origin):
# CF chrom. # CF chrom.
Name Total (*) w/ mut'n Name Total (*) w/ mut'n
1. [[Delta]]F508 ______ ______ 31. Y913C ______ ______
2. [[Delta]]I507 ______ ______ 32. R553Q ______ ______
3. 2566insAT ______ ______ 33. S549R(A->C)______ ______
4. F508C (var?)______ ______ 34. P574H ______ ______
5. I506V (var) ______ ______ 35. 1154insTC ______ ______
6. G551D ______ ______ 36. 1214delT ______ ______
7. S549N ______ ______ 37. 3659delC ______ ______
8. R553X ______ ______ 38. 556delA ______ ______
9. A559T ______ ______ 39. 621+1G->T ______ ______
10. G542X ______ ______ 40. E1371X ______ ______
11. S549R(T->G)______ ______ 41. G85E ______ ______
12. R560T ______ ______ 42. R851X ______ ______
13. A455E ______ ______ 43. 711+1G->T ______ ______
14. Q493X ______ ______ 44. G179R ______ ______
15. R117H ______ ______ 45. 2909delT ______ ______
16. D110H ______ ______ 46. 2522insC ______ ______
17. R347P ______ ______ 47. R1162X ______ ______
18. S1255X ______ ______ 48. Q1291H ______ ______
19. W1282X ______ ______ 49. Q39X ______ ______
20. W1316X ______ ______ 50. G1244E ______ ______
21. 444delA ______ ______ 51. Y1092X ______ ______
22. 3821delT ______ ______ 52. 3662delA ______ ______
23. R334W ______ ______ 53. 1677delA ______ ______
24. S549I ______ ______ 54. V520F ______ ______
25. G458V ______ ______ 55. 3732delA ______ ______
26. G1349D ______ ______ 56. 2789+5G->A______ ______
27. W846X ______ ______ 57. C524X ______ ______
28. 1717-1G->A______ ______ 58. 129G->C var?_____ ______
29. N1303K ______ ______ ______ ______
30. Y563N ______ ______ ______ ______
(*) In order to have a more useful number for comparison among the different populations, please include the number of [[Delta]]F508 screened for the non-[[Delta]]F508 mutations, even though you might not have done so.