TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM
Amos, Boston U, USA Highsmith, NC Mem Hosp, USA
Anvret, Stockholm, Sweden Horst, Münster, West Germany
Barker, U Alabama Birm, USA Jaume-Roig, Son Dureta, Spain
Barton, Cambridge, England Kalaydjieva, Sofia, Bulgaria
Beaudet, Baylor, USA Kant, U Penn, USA
Baranov, Leningrad, USSR Kitzis, CHU-Paris, France
Boué, Paris, France Klinger, Integ Genet, USA
Bowcock, Stanford, USA 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 Olek, U Bonn, West Germany
Desnick, Mount Sinai, New York, USA Orr, U Minnesota, USA
Edkins, Perth, Australia Pignatti, U Verona, Italy
Edwards, Oxford, England Ramsay, SAMIR, South Africa
Efremov, Skopje, Yugoslavia Richards, GeneScreen, USA
Elles, St Mary's-Manchester, England Romeo, Gaslini-Genoa, Italy
Erlich, Cetus, USA Rowley, Rochester, USA
Estivill, Barcelona, Spain Rozen, Montreal Children, Canada
Ferec, Brest, France Scheffer,UGroningen,The Netherlands
Ferrari, Milano, Italy Schmidtke, IHG, Berlin
Gerard, Harvard, USA Schwartz, U Copenhagen, Denmark
Gilbert, Cornell, New York, USA Sebastio, Naples, Italy
Godet, Villeurbanna, France Seltzer, U Colorado, USA
Goossens, Creteil, France Spona, Vienna, Austria
Graham, Belfast, N Ireland Super, Royal Manchester, England
Halley, Rotterdam, The Netherlands Thibodeau, Rochester, USA
Harris, Guy's-London, England Tümmler, Hannova, West Germany
Higgins, Birmingham, England Verellen-Dumoulin,Bruxelles,Belgium
Willems, U Antwerp, Belgium
Williamson,St Mary'sLondon,England
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FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 22
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NEWSLETTER #23, August 9, 1990
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1. Gasparini P, Savoia A, Bonizzato A, Dognini M and Piagnati PF report a nonsense mutation (R1162X) at nucleotide position 3616 (C to T) in exon 19. The same group report a frequent silent mutation at nucleotide position 4521 (G or A) in exon 24 (see letter).
2. McIntosh I, Shrimpton T, Jones C and Brock D report a missense or splice mutation (Q1291H) at nucleotide position 4005 (G to C) in exon 20 (see letter).
3. Cutting GR and Curristin S report a nonsense mutation (Q39X) at nucleotide position 247 (C to T) in exon 2 (see letter).
4. Romeo G, Ronchetto P, Devoto M, Goossens M, Fanen P and Vidaud M report a missense mutation (G1244E) at nucleotide position 3863 in exon 20 (see letter).
5. Bozon D, Zielenski J and Tsui L-C report a nonsense mutation (Y1092X) at nucletoide position 3408 (C to A) in exon 17b. It was found in Toronto family #34 on a haplotype group IIa chromosome from the mother. It was not found in 52 other CF chromosomes (6 of haplotype IIa) nor 50 N chromosomes (44 of haplotype IIa). The mutation destroys a RsaI site. Digestion of the PCR product generated from primers 17ai5 and 17ai3 should yield 4 fragments (204, 95, 85 and 79) for the normal sequence and 3 fragments (299, 85 and 79) for the mutant.
6. A table summarizing all the mutations reported to date is attached. Please let me know if there is any error and if any of the work (ie. those listed as per.comm.) has been accepted (or, if you wish to list, submitted).
7. The mutation screening table has also been compiled (see attached). I realize that there are still numerous errors; for example, there should be at least 1 CF chromosome under each mutation but there are a few left with zero. Also, the total number of CF chromosomes screened is not very reliable; I think one should pay more attention to the numbers found. If there is any major discrepancy, please let me known as soon as possible. In any case, the purpose of this table is to provide some guidelines for those who are planning to screen their respective populations.
8. I have asked Chris Higgins to go ahead with his CFTR model with annotations of the various mutations, because I have not heard any objection from you.
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 ______ ______ ______ ______
23. R334W ______ ______ ______ ______
24. S549I ______ ______ ______ ______
25. G458V ______ ______ ______ ______
26. G1349D ______ ______ ______ ______
27. W846X ______ ______ ______ ______
28. 1717-1G->A______ ______ ______ ______
29. N1303K ______ ______ ______ ______
30. Y563N ______ ______ ______ ______