NEWSLETTER #57, August 31, 1993


Subject: Draft of consortium report

1. Attached are two tables that I have tried to compile from the data submitted by the members. I have not include the data for 5 of the listed mutations because they have be found less than 10 times. The final Table 1 should contain the data for [[Delta]]F508 and the other 24 mutations as shown, unless there is a dramatic change in the next two weeks.

2. Table 2 lists some of the mutations that are frequent in specific populations but not included in Table 1. I suggested an arbitrary cut-off of 5% of the total population. There have been suggestions that it should be lowered to 1 %. To see if we can handle the data, please send me your data (again) using the 1% cut-off (ie. any mutation that is more than 1% of your population).

3. As indicated previously, it is reasonable to use the chromosome number that was screened for [[Delta]]F508 as the size of the study population. As the data showed, that is usually the largest number of chromosomes examined for any given population. Please leave a blank if the specific mutation was not tested.

4. The proposed title for the final report is "Population variation of cystic fibrosis mutations". The "author" of the report will be "The Cystic Fibrosis Genetic Analysis Consortium". Names of up to 3 contributors from individual laboratories will be listed in the table and the name of affiliated institute is limited to one that belongs to the first author. If any of the data are cited from published reports, please include the reference(s) in a foot note.

5. I am sorry about the confusion regarding the data submission date. It has been extended to September 15. Please send in your data and revisions as soon as possible. The entries in italics indicate data submitted before July 1992.

General Meeting

There are two possibility of having this year's General Meeting:

a) The American Society of Human Genetics Meeting in New Orleans (Oct 6-9) or

b) The North American CF Conference in Dallas (Oct 13-16); or

c) The current format is fine; no meeting necessary.

Only one member voted for (a) so far; I would welcome any helpful suggestions.

Best wishes,