TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM
Amos, Boston U, USA Kalaydjieva, Sofia, Bulgaria
Anvret, Stockholm, Sweden Kant, U Penn, USA
Barker, U Alabama Birm, USA Kerem, Jerusalem, Israel
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 Pivetta, Buenos Aires, Argentina
Elles, St Mary's-Manchester, England Ramsay, SAMIR, South Africa
Erlich, Cetus, USA Richards, GeneScreen, USA
Estivill, Barcelona, Spain Romeo, Gaslini-Genoa, Italy
Ferec, Brest, France Rowley, Rochester, USA
Ferrari, Milano, Italy Rozen, Montreal Children, Canada
Gerard, Harvard, USA Scheffer,UGroningen,The Netherlands
Gilbert, Cornell, New York, USA Schmidtke, IHG, Berlin
Godet, Villeurbanna, France Schwartz, U Copenhagen, Denmark
Goossens, Creteil, France Sebastio, Naples, Italy
Graham, Belfast, N Ireland Seltzer, U Colorado, USA
Halley, Rotterdam, The Netherlands Spona, Vienna, Austria
Harris, Guy's-London, England Super, Royal Manchester, England
Higgins, Birmingham, England Thibodeau, Rochester, USA
Highsmith, NC Mem Hosp, USA Tümmler, Hannova, West Germany
Hood, California Inst Tech, USA Verellen-Dumoulin,Bruxelles,Belgium
Horst, Münster, West Germany Willems, U Antwerp, Belgium
Jaume-Roig, Son Dureta, Spain Williamson,St Mary'sLondon,England
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FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 11
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NEWSLETTER #29, December 10, 1990
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1. There are 3 new mutations reported to the Consortium in the last month:
a. Wulbrand U, Dörk T and Tümmler B report a splice mutation (3600-2A->G) in front of exon 19 (see attached).
b. Goossens M reports a frameshift mutation (574delA) in exon 4(see attached).
c. Rininsland F, Bozon D and Tsui L-C report a missense mutation (I148T) at nucleotide position 575 (T->C) in exon 4. This mutation was found in only 1 CF patient with PI, on his maternal CF chromosome; the change was not found in 81 normal chromosomes and 125 other Cf chromosomes (20 with [[Delta]]F508). To detect this mutation, genomic DNA may be amplified with primers 4i-3' and 4i-5', hybridization with N oligo: 5'-TCA TCA CAT TGG AAT G-3' and mutant oligo: 5'-TCA TCA CAC TGG AAT G-3', and final wash at 42[[ring]].
2. Estivill X and Morral N report a highly informative (GT) polymorphism in intron 8 (see attached). My sincere apologies, as this report was left out from the last newsletter.
3. Harris A reports a sequence polymorphism in intron 7 (see attached).
4. Kaiser R and Olek K propose a test for heterozygote advantage (their letter is attached). Please send your data to K. Olek at FAX#: 49(country code)228-280 3834 or the bitnet # as indicated.
5. There have been a while since the last time we called for mutation screening data. As before, please include the number of [[Delta]]F508 screened for the non-[[Delta]]F508 mutations, even though you might not have done so; this adjustment will give a more useful number for comparison among the different populations.
6. I will try to print a complete list of the mutations again in January. Please send me reprints or any updates of references (paper in press, etc.) for your mutations.
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 ______ ______ 36. 1214delT ______ ______
2. [[Delta]]I507 ______ ______ 37. 3659delC ______ ______
3. 2566insAT ______ ______ 38. 556delA ______ ______
4. F508C (var?)______ ______ 39. 621+1G->T ______ ______
5. I506V (var) ______ ______ 40. E1371X ______ ______
6. G551D ______ ______ 41. G85E ______ ______
7. S549N ______ ______ 42. R851X ______ ______
8. R553X ______ ______ 43. 711+1G->T ______ ______
9. A559T ______ ______ 44. G178R ______ ______
10. G542X ______ ______ 45. 2909delT ______ ______
11. S549R(T->G)______ ______ 46. 2522insC ______ ______
12. R560T ______ ______ 47. R1162X ______ ______
13. A455E ______ ______ 48. Q1291H ______ ______
14. Q493X ______ ______ 49. Q39X ______ ______
15. R117H ______ ______ 50. G1244E ______ ______
16. D110H ______ ______ 51. Y1092X ______ ______
17. R347P ______ ______ 52. 3662delA ______ ______
18. S1255X ______ ______ 53. 1677delA ______ ______
19. W1282X ______ ______ 54. V520F ______ ______
20. W1316X ______ ______ 55. 3732delA ______ ______
21. 444delA ______ ______ 56. 2789+5G->A______ ______
22. 3821delT ______ ______ 57. L1077P ______ ______
23. R334W ______ ______ 58. C524X ______ ______
24. S549I ______ ______ 59. 129G->C ______ ______
25. G458V ______ ______ 60. 3850-3T->G ______ ______
26. G1349D ______ ______ 61. 1784delG ______ ______
27. W846X ______ ______ 62. Q552X ______ ______
28. 1717-1G->A______ ______ 63. 852del22 ______ ______
29. N1303K ______ ______ 64. H199Q ______ ______
30. Y563N ______ ______ 65. Y122X ______ ______
31. Y913C ______ ______ 66. 4374+1G->A______ ______
32. R553Q ______ ______ 67. 3699-2A->G______ ______
33. S549R(A->C)______ ______ 68. 574delA ______ ______
34. P574H ______ ______ 69. I148T ______ ______
35. 1154insTC ______ ______