CF Genetic Analysis Consortium NEWSLETTER #60- January 7, 1994
__________________________________________________________________
Happy New Year! We just broke the 400 mark! (Total no. of mutation entries is 404)
1. I have received several feedbacks about sending the Newsletter by mail. It seems to be generally acceptable. I am still trying to find out why the cost of sending fax went up all in a sudden.
2. Summary of CF mutations:
Name Nucleotide Exon Consequence Reference
change
V1397E T->A at 4322 23 Val->Glu at 1397 Petreska L, Koceva S, Efremov
GD (Nov 5)
711+3A->G A->G at 711+3 intron 5 splicing Petreska et al (Nov 5)
mutation?
-471delAGG deletion of 5' promoter Grade K, Grunewald I, Hanke R,
AGG from -471 flanking mutation? Coutelle C (Nov 12)
[[Delta]]L126 deletion of 20 deletion of Leu Hermans C, Halley D, van den
0 ACT from at 1260 or 1261 Ouweland A (Nov 16)
either 3909
or 3912
V520I G->A at 1690 10 Val->Ile at 520 Malone G, Haworth A, Schwarz M,
Super M (Nov 17)
2711delT deletion of T 14a frameshift Lissens W, Bonduelle M,
at 2711 Liebaers I, Férec C, Quere I,
Audrezet MP, Mercier B (Nov 18)
V232D T->A at 827 6a Val->Asp at 232 Costes B, Ghanem N, Girodon E,
(CBAVD) Goossens M (Nov 19)
G1123R G->C at 3499 17b Gly->Arg at 1123 Wallace A, Tassabehji M (Nov 24)
splicing
mutation?
E116K G->A at 478 4 Glu->Lys at 116 Costes B, Girodon E, Ghanem N,
Goossens M (Nov 26)
406-2A->C A->C at 406-2 intron 3 splicing mutation Costes et al (Nov 26)
D443Y G->A at 1459 9 Asp->Tyr at 443 Costes et al (Nov 26)
297-28insA insertion of intron 2 splicing Scheffer H, Dijkstra D-J (Nov
A after 297-28 mutation? 29)
Y917C A->G at 2882 15 Tyr->Cys at 917 Edkins E, Creegan R (Dec 3)
3121-2A->G A->G at 3121-2 intron 16 splicing mutation Macek MJr, Mackova A, Sedriks
SE, Cutting GR (Dec 6)
552insA insertion of 4 frameshift Ivaschenko TE, Bakay M, Baranov
A after 552 VS (Dec 7)
I1139V A->G at 3547 18 Ile->Val at 1139 Teng H, Cuppens H, Cassiman J-J
(Dec 13)
Q1412X T->C at 4366 23 Gln->Stop at 1412 Wallace A, Tassbehji M (Dec 14)
1341+18A->C A->C at intron 8 splicing Claustres M, Romey M-C,
1341+18 mutation? Desgeorges M (Dec 17)
G239R G->A at 847 6a Gly->Arg at 239 Zielenski J, Markiewicz D, Tsui
L-C (Dec 20)
-816C->T C->T at -816 5' promoter Bienvenu T, Cazeneuve C, Kaplan
flanking mutation? JC, Beldjord C (Dec 22)
L571S T->C at 1844 12 Leu->Ser at 571 Savov A, Jordonova A,
Angelicheva D, Kremensky I,
Kayaydjieva (Jan3)
3. DNA sequence polymorphisms/variations in the coding region
Nucleotide position Amino acid change Exon Reference
2901C/T Ala at 923 (no change) 15 Edkins E,Creegan R (Dec
3)
4. DNA sequence polymorphism elsewhere in the CF gene
Description Location Reference
2752-22A/G A or G at 2752-22 (intron 14a) Marigo C, Bombieri C,
Pignatti PF, Bonizzato
A, Nicolis E, Cabrini G
(Dec 7)
5. Please remove I1109T and R170G from your mutation table (see letter from M Claustres, Nov. 8).
6. M Dean, L Osborne and R. Knight are seeking collaborators to work on possible association between DQa allele and severity of lung disease (see letter). Please Mike or Dick if you are interested.
7. G Romeo, M Devoto, X Estivill and L ten Kate are looking for European collaborators to revisit the segregation distortion problem (see letter). Please contact Giovanni for proper data reporting format.
8. A revised copy of our mutation frequency manuscript is attached. I hope it is the next to final draft. Please check the entries carefully and answer the queries.
9. I have been in touch with several Consortium members by e-mail. I have asked my computer assistant to look into the possibility of having an anonymous FTP account for some of the non-confidential data items. Please send me a note (by e-mail) if you have an address; perhaps we can save some money by doing some communications by e-mail. My address is cfdata@sickkids.on.ca
Best wishes,