NEWSLETTER #40, December 9, 1991

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1. The mutations reported in this issue are from:

- T. Shoshani, N. Bashan and B. Kerem (Nov. 14)

W1089X G->A at 3398 exon 17b

- H. Cuppens, P. Marynen and J.J. Cassiman (Nov. 15)

1898+1G->C splice mutation intron 12

- G. Malone, M. Schwarz and M. Super (Nov. 22)

E60X G->T at 310 exon 3

- G.B. Leoni, M.C. Rosatelli, G. Cossu, C. Pischedda, S. de Vergiliis

and A. Cao (Dec. 3)

1706del16 16-bp del. from 1706 exon 10

- T. Ivaschenko, V. Baranov and M. Dean (Dec. 5)

S1196X C->G at 3719 exon 19

W1282R T->C at 3976 exon 20

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

and C. Ferec (Dec. 6)

G827X G->T at 2611 exon 13

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

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

and C. Ferec (Nov. 13)

2736 (G or A), no change (Val at 868) exon 14a

- H. Cuppens, P. Marynen and J.J. Cassiman (Nov. 15)

1001+11 (C or T) C or T in intron 6b at position +11

- T. Dörk, N. Kälin and B. Tümmler (Nov. 22)

3041-92 (G or A) intron 15

- T. Ivaschenko, V. Baranov and M. Dean (Dec. 5)

1525-61 (A or G) intron 9

1716+12 (T or C) intron 10

3. L.S. Davidlow provides a computer program which can be used to select site-directed mismatch PCR primers (see letter).

4. The total number of mutations reported to the consortium is 136. The types and distribution of mutations are as following:

exons 1-12 exon 13 exons 14-27 total

Missense 36 3 18 57

Nonsense 9 2 12 23

Splice site 11 - 11 22

Frameshift (deletion) 12 2 8 22

(insertion) 2 3 3 8

Inframe deletion 3 1 - 4

Total 73 11 52 136

Have a good holiday and a happy new year!