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: 5
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NEWSLETTER #27, OCTOBER 2, 1990
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1. Dörk, Wulbrand and Tümmler report a possible splice mutation at the 5' end of exon 20 (3850-3T->G) (see letter attached).
2. Goossens, Fanen, Vidaud, Ferrari and Cremonesi report a frameshift mutation in exon 11 (1784delG) (see letter).
3. Goossens, Fanen, Vidaud, Romeo, Ronchetto, Telleria and Devoto report a nonsense mutation in exon 11 (Q552X) (see letter).
4. A compile copy of the back issues of Newsletter #14-#26) will be distributed through regular mail before the end of this week. If you do not receive it within reasonable time, please drop me a note. A copy of the compiled Newsletter #1-13 will also be sent to those members who join after Paril 5, 1990.
5. A summary table of the population screening result is attached. There is significant variation among different centers. Since the entire table is 20 pages long it would be too expensive to send it by FAX; it will be included in the back issues.
Best regards,
Lap-Chee Tsui
Summary of population screening data
# CF chrom. # CF chrom.
Name Total (*) w/ mut'n Name Total (*) w/ mut'n
1. [[Delta]]F508 15802 10805 31. Y913C 218 1
2. [[Delta]]I507 4093 26 32. R553Q 674 1
3. 2566insAT 1168 1 33. S549R(A->C) 665 1
4. F508C (var?) 1039 5 34. P574H 292 1
5. I506V (var) 595 2 35. 1154insTC 346 1
6. G551D 5981 231 36. 1214delT 243 1
7. S549N 2995 15 37. 3659delC 175 3
8. R553X 5365 115 38. 556delA 387 1
9. A559T 944 1 39. 621+1G->T 1214 44
10. G542X 4243 210 40. E1371X 430 1
11. S549R(T->G) 1384 3 41. G85E 154 1
12. R560T 1243 21 42. R851X 283 1
13. A455E 1814 16 43. 711+1G->T 54 1
14. Q493X 202 1 44. G179R 61 1
15. R117H 2248 12 45. 2909delT 111 1
16. D110H 1338 1 46. 2522insC 179 1
17. R347P 3095 25 47. R1162X 125 1
18. S1255X 1512 1 48. Q1291H 638 2
19. W1282X 1217 26 49. Q39X 14 1
20. W1316X 352 1 50. G1244E 627 1
21. 444delA 1616 1 51. Y1092X 52 1
22. 3821delT 333 1 52. 3662delA 125 1
23. R334W 2101 16 53. 1677delA 393 1
24. S549I 1678 1 54. V520F 721 3
25. G458V 778 3 55. 3732delA 125 1
26. G1349D 574 2 56. 2789+5G->A 13 1
27. W846X 227 2 57. C524X 662 1
28. 1717-1G->A 752 12 58. 129G->C var? 117 3
29. N1303K 1421 30 59. 3850-3T->G
30. Y563N 346 1 60. 1784delG
61. Q552X
(*) The numbers include a rough estimate of [[Delta]]F508 screened for each of the non-[[Delta]]F508 mutations.
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 ______ ______ 59. 3850-3T->G ______ ______
30. Y563N ______ ______ 60. 1784delG ______ ______
61. Q552X ______ ______
(*) 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.