NEWSLETTER #38, September 20, 1991


1. The mutations reported in this issue are from:

- C. Ferec, H. Guillermit, C. Verlingue and I. Quere (Aug 22)

R560K G->A at nt 1811 exon 11

- T. Dörk, N. Kälin and B. Tümmler (Aug26)

4374+1G->T splicing mutation intron 23

- W.E. Highsmith, L. Burch, T.F. Boat, R.C. Bouchard, L.M. Silverman and M.R. Knowles (Aug 30)

3849+10kbC->T aberrant splicing intron 19

- M.P. Audrezet, B. Mercier, I. Guere, H. Guillermit and C. Ferec (Sep 9)

H1085R A->G at nt 3386 exon 17b

- N. Kälin, T. Dörk and B. Tummler (Sep 12)

435insA frameshift exon 4

- B. Mercier, M.P. Audrezet, I. Quere, H. Guillermit, C. Verlingue and C. Ferec (Sep 16 and Sep 19)

3320ins5 CTATG insertion, framesift exon 17b

R1066H G->A at nt 3329 exon 17b

A1067T G->A at nt 3331 exon 17b

- H. Cuppens, P. Marynen and J.J. Cassiman (Sep 20)

622-2AÆC splicing mutation intron 4

2. The polymorphisms reported in this issue are from

- C. Ferec, H. Guillermit, I. Quere and Verlingue (Sep 2)

nt 3023-71 G or C intron 15

- M. Chillón, V. Nunes and X. Estivill

nt 3030 G or A Thr966 no change exon 15

3. Bob Elles would like to remind members that the UK National Consortium for Clinical Molecular Genetic Service handbook for 1991 may be obtained from him at Regional Moelcular Genetics Laboratory, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH. You may also copy it from other's.

4. Ann Harris pointed out that the the altered nucleotide number for I1234V should be 3832 (A to G) (NL#37).

5. A. Hamosh and G. Cutting propose the establishment of a center to coordinate genotype-phenotype studies in cystic fibrosis. Their letter is attached. As suggested, the proposal will be discussed at the ICHG meeting in Washington.

6. More positive response regarding the distribution of specific oligonucleotides for allele-specific hybridization: Thilo, Nanette and Burkhard (Hannover) is willing to distribute mutant and control ASOs for A455E, 1717-1G->A and G542X to those who are interested.

7. Ted Edkins has formed a consortium among 5 Australian groups (see attached).

8. The next general meeting of the consortium will be held from 6:30 to 7:30 pm on Wednesday, October 9 (Room 27) at the International Human Genetics Congress in Washington, D.C. (October 6-11). There will also be an informal meeting at 8-10 pm on October 3 during the North American CF Conference (October 2-5) in Dallas, Texas. The tentative agenda is: (1) Annual report from the coordinator; (2) Acceptance of new members; (3) Regional consortium; (4) Inactive members; (5) Distribution of mutant and control oligonucleotides; (6) Discussion on the proposed genotype-phenotype study. Any more suggestions?