TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM
Barker, U Alabama Birm, USA Kant, U. Penn, USA
Beaudet, Baylor, USA Kitzis, CHU-Paris, France
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Cassiman, U Leuven, Belgium Malcolm, ICH-London, England
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Collins, U Michigan, USA Mao, Collab Res, USA
Cutting, Johs Hopkins, USA McIntosh, WGH-Edinburgh, Scotland
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NEWSLETTER #4, January 26, 1990
1. Two more new mutations have been reported by Gary Cutting. The first is a G->A switch at nucleotide position 1778, which results in a Ser549->Asn substitution, and the other is a C->T switch at nucleotide position 1789, which results in Arg553->Stop (see letter received Jan 15, 1990).
2. A compiled list of population screening data is attached. Additional data have been collected for some of the non-[[Delta]]F508 mutations. They all seem to fall in the same haplotype groups, as one would have predicted.
3. As some of you have already suggested, we need to devise a nomenclature system for CF mutations. I have taken the liberty to propose a scheme, as shown in the compiled data set. The general rule is:
a. For single amino acid deletions, I used [[Delta]], followed by the single letter amono acid code and its corresponding position as defined in the paper by Riordan et al. (eg. [[Delta]]I507)
b. For single aa substitutions, the single letter aa code, position, and the new aa code (eg. G551->D).
c. For insertions, the nucleotide position of the insertion (eg. ins2566).
d. For nonsense mutations, the aa code, position, and "Stop" (eg. R553->Stop).
e. For large deletions, "[[Delta]]" followed by the nucleotide position.
f. To avoid confusion in rare cases where a single aa may mutate to another aa by different base substitions, I suggest that we put the nucleotide change in a parenthesis.
I will appreciate any comments or suggestions. Please keep them short, however.
4. The RFLP probes have been deposited at the NIH Human (DNA) Repository, ATCC, 12301 Parklawn Drive, Rockville, MD 20852-1776; they will be available shortly, I presume. The various cDNA clones are already available from them.