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

_____________________________________________________________

FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 6

_____________________________________________________________

NEWSLETTER #21, July 18, 1990

_____________________________________________________________

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 ______ ______ ______ ______