NEWSLETTER #39, November 12, 1991


1. The mutations reported in this issue are from:

- T. Meitinger, I. Böhm and T. Deufel (Sep 25)

[[Delta]]F311 3 bp deletion exon 7

- M. Dean, G. Gerrard, M.B. White, C. Stewart and J. Amos (Oct 10)

D1270N G->A at nt 3940 exon 20

- T. Dörk, N. Kälin and B. Tümmler (Oct 11)

L619S T->C at nt 1988 exon 13

- I. Quere, M.P. Audrezet, B. Mercier, H. Guillermit, C. Verlingue and C. Ferec

(Oct 17)

1221delCT CT deletion between nt 1221 ans 1226 exon 7

- J. Cheadle and L. Meredith (Oct 23)

R1283M G->T at nt 3980 exon 20

2. There is only one polymorphism reported in this issue from:

- T. Dörk, N. Kälin and B. Tümmler (Oct 11)

3417 A or T Thr1095 no change exon 17b

3. A copy of the large mutation screening table has been mailed to all members in the middle of October. If you have not received it yet, please let me know.

4. The second Annual General Meeting of this consortium was held on October 9, during the International Human Genetics Congress in Washington, D.C. The following is a synopsis of the meeting:

a. There is unanimous agreement that the consortium should be continued in the coming year. The members of the Steering Committee and the coordinator remain the same. The next general meeting will likely to be in Dublin, during the International CF Conference.

b. The longest discussion was on the formation of a genotype/phenotype consortium. The proposal was originated from Ada Hamosh and Garry Cutting (Johns Hopkins) who also volunteered to coordinate this effort. While the members generally agreed on the need of a such study, there were concerns as to how the work should be conducted. The major concern was the difference in clinical practice at various CF centers; the inconsistency might obscure meaningful correlation. There was also some doubt about the meaning of an superficial survey and the value of the information. Further, according to the initial agreement of the CF Genetic Analysis Consortium, the first right to conduct any further studies should belong to the group reporting the mutation. In any case, the Johns Hopkins group was encouraged to proceed. They agreed that they would consult with the groups of primary concern and those who already initiated similar studies. The Genetic Analysis Consortium would provide assistance to their study when requested.

c. The number of new applicants to the consortium has reduced in the past year. Although there is no limit to the size of the consortium, there will be a problem in transmission of newsletters by fax if the number gets too large. In order to include all the groups who have a good reason to join, methods must be introduced to reduce the number of newsletter. It is suggested that if any groups decide that they can share a common newsletter, they should form a regional consortium. These groups will be full members of the consortium and they follow the same guidelines as other members. Therefore, acceptance of members to the regional consortium must also get approval from the Steering Committee.

d. Reminders will be sent to members who have been inactive for the past six months. If for any reason the interest of a member has changed, the group should no longer receive newsletter from the consortium.

e. Members of the consortium are encouraged to publish their mutation papers in two of the recently launched journals (Human Mutations and Molecular Human Genetics). The consortium will try to publish a table of several relatively more frequent mutations in the same format as the one for [[Delta]]F508. It was also suggested that a short report on the operation of the consortium would be welcome by the human genetic community.

f. Members who are willing to provide oligonucleotides to other laboratories should send their list to the consortium which will be published periodically.

g. A list of CF mutant cell lines that have been deposited at various repositories will be prepared by Art Beaudet for general circulation.

h. It was initially suggested that future mutation report should be submitted on a standard form to shorten the page numbers of the newsltters and to obtain more detailed information about the reporting mutation but, after further consideration, I think it would create more unnecessary work.

5. A membership list has been distributed at the last general meeting. For those who did not attend the meeting and wished to have one, please let me know. There was no newsletter in October.

6. A list of mutation is attached in this newsletter. Please let me know of any mistakes or updates of references.

Best regards,

Lap-Chee Tsui