NEWSLETTER #37, August 13, 1991


1. The mutations reported in this issue (see attached) are from:

- M. Goossens, P. Fanen and N. Ghanem

C225R T->C at nucleotide positon 805 exon 6a

K710X A->T at nt 2260 exon 13

G628R G->A at nt 2014 exon 13

R668C C->T at 2134 exon 13

2043delG frameshift exon 13

- M. Claustres, P. Kjellberg, M. Desgeoges and M. Dean

I1234V A->G at nt 3833 exon 19

- N. Malik, S.Hofmann, N.Bösch-Al Jadooa, M.Rutishauser and E.Bühler

3905insT frameshift exon 20

- M. Claustres, C. Stewart and M. Dean

3737delA frameshift exon 19

- M. Claustres, M.B. White and M. Dean

N1303H A->C at nt 4039 exon 21

- L. Smit, T. Strong, M. Iannuzzi, L.-C. Tsui and F. Collins

1898+73T->G splicing mutation? intron 12

2. The polymorphisms reported in this issue (see attached) are from

- M. Goossens, P. Fanen and N. Ghanem

nt 4029 A or G no change in aa (Thr 1299) exon 21

nt 875+40 A or G intron 6a

- T. Shoshani, N. Bashan and B. Kerem

nt 4404 C or T no change in aa (Tyr1424) exon 24

- H. Cuppens, O. Louml, P. Marynen and J.J. Cassiman

dup1716+51->61 10 bp duplication intron 10

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

1898+152T->A intron 12

3. A.J. Wallace and R.G. Elles of Manchester Central Hospital advise the consortium that, during screening of exon 20 for the 4005+1G->A mutation reported by Ferec et al (NL#36), they discovered that a Q1291H control (NL#23) also destroyed the same HphI site. They have not been able to find a suitable restriction enzyme to distinguish the two mutations.

4. There has been some positive response regarding the distribution of specific oligonucleotides for allele-specific hybridization, subsequent to the discussion at The European CF Conference in June. M. Schwarz (Manchester) has indicated a willingness to provide control and mutant ASOs for 6 common mutations as well as patient DNA controls for 12 mutations (see letter). Three other groups would like to receive ASOs. G.D. Efremov (Skopje, Jugoslavia) is, on the other hand, willing to provide PCR primers for the XV-2c marker.

5. 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 room will be announced).

Best regards,

Lap-Chee Tsui