TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM
Amos, Boston U, USA Horst, Münster, West Germany
Anvret, Stockholm, Sweden Jaume-Roig, Son Dureta, Spain
Barker, U Alabama Birm, USA Kalaydjieva, Sofia, Bulgaria
Barranger, Los Angeles, USA Kant, U Penn, USA
Barton, Cambridge, England Kitzis, CHU-Paris, France
Beaudet, Baylor, USA Klinger, Integ Genet, USA
Baranov, Leningrad, USSR Knight, London, England
Boué, Paris, France Krueger, Hahnemann, USA
Bowcock, Stanford, USA Lavinha, Lisboa Codex, Portugal
Cao, U Cagliari, Italy Lissens, Vrije U Brussels, Belgium
Carbonara, Torino, Italy Loukopoulos, Athens, Greece
Cassiman, U Leuven, Belgium Lucotte, College de France
Claustres, Montpellier, France Malcolm, ICH-London, England
Cochaux, Brussels, Belgium Malik, Basler-Basel, Switzerland
Collins, U Michigan, USA Mao, Collab Res, USA
Coskun, Hacettepe U, Turkey McIntosh, WGH-Edinburgh, Scotland
Cutting, Johns Hopkins, USA Morel, Lyon, France
Dallapiccola, Roma, Italy Morgan, McGill, Canada
De Arce, Dublin, Ireland
Naylor, UT San Antonio, USA
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
Gruenert, UCSF, USA Thibodeau, Rochester, USA
Halley, Rotterdam, The Netherlands Tümmler, Hannova, West Germany
Harris, Guy's-London, England Verellen-Dumoulin,Bruxelles,Belgium
Higgins, Birmingham, England Willems, U Antwerp, Belgium
Highsmith, NC Mem Hosp, USA Williamson,St Mary'sLondon,England
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FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 6
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NEWSLETTER #21, July 18, 1990
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1. Goossens, Fanen and Vidaud of Créteil, France and Ferrari and Cremonesi of Milan, Italy report the identificaton of a mutation in exon 15 (2909delT); please see letter attached.
2. Horn, Merrill, Richards and Klinger have provided additional sequences for the intervening sequence between exon 6a and 6b; please see attached.
3. There have been a lot of updates of mutation screening sent to us in the past 2 weeks. We are preparing a new summary which should be ready for the next newsletter. Please send in your last minute result as soon as possible, especially those who have not done so. A standardized form for reporting frequencies is attached. PLEASE USE IT, instead of a long papragraph or some other formats which take us more time in retrieving the information (and cause error too). I have eliminated the non-[[Delta]]F508 designation, so please report or the total CF chromosomes in the study population. We have trouble including that information because not everyone reports the saem way. We have particular problem with some other non-standard designations such as "non-G551D screened" in the large table. Also, please use different sheets for different populations. Thank you for your cooperation.
4. Bat-sheva Kerem will return to Israel by the end of this month. She has obtained a position in the Department of Genetics at Hebrew University in Jerusalem. Please address correspondence accordingly.
5. New FAX number for Sue Richards, GeneScreen, USA: (1) 214-634-3322
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. P547H ______ ______
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 ______ ______ ______ ______
17. R347P ______ ______ ______ ______
18. S1255X ______ ______ ______ ______
19. W1282X ______ ______ ______ ______
20. W1316X ______ ______ ______ ______
21. 444delA ______ ______ ______ ______
22. 3821delT ______ ______ ______ ______
23. R334W ______ ______ ______ ______
24. S549I ______ ______ ______ ______
25. G458V ______ ______ ______ ______
26. G1349D ______ ______ ______ ______
27. W846X ______ ______ ______ ______
28. 1717-1G->A______ ______ ______ ______
29. N1303K ______ ______ ______ ______
30. Y563N ______ ______ ______ ______