NEWSLETTER #42, February 18, 1992

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1. The mutations reported in this issue are from:

- H. Cuppens, , O. Loumi, P. Marynen and J.J. Cassiman (Dec. 11)

W1310X G->A at 4061 exon 21

- T. Meitinger, C. Aulehia-Scholz, I. Böhm and T. Deufel (Jan. 23)

G314E G->A at 1073 exon 7

- N. Ghanem, B. Costes, P. Fanen and M. Goossens (Jan. 20)

L1065P T->C at 3326 exon 17b

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

C. Ferec (Feb 3)

Q1238X C->T at 3844 exon 19

3850-1G->A splice mutation intron 19

- W. Lissens, M. Bonuelle, I. Liebaers, I. Quere, M.P. Audrezet,

B. Mercier and C. Ferec (Feb 8)

3750delAG frameshift exon 19

2. The sequence variations reported in this issue are from:

- R.B. Parad and C. Gerard (Jan. 17)

3500-140 (A or C) intron 17b

- N. Ghanem, B. Costes, P. Fanen and M. Goossens (Jan. 20 & Feb. 17)

3332 (C or T) exon 17b (Ala or Val at 1067)

2867 (C or T) exon 15 (Ser or Leu at 912)

1531 (C or T) exon 10 (Leu or Phe at 467)

- M. Chillón, A. Palacio, V. Nunes and X. Estivill (Feb. 4)

1525-60 (G or A) intron 9

3. D. Markiewicz, D. Bozon, J. Zelienski and L-C Tsui note that the mutation 129G->C (Zielenski et al. 1991) has been found on 7 CF chromosomes, 6 of which also carried R117H; 129G->C is therefore more likely a benign sequence variation.

4. Attached is a revised list of CFTR mutations. Please let me know of any reference update, typographical errors or mistakes.

5. Also attached is a mutation reporting form. Please submit your screening data by the end of April 1992. I will try to compile the data in May.

Best regards,

Lap-Chee Tsui