NEWSLETTER #43, March 19, 1992

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1. The mutations reported in this issue are from:

- C. Deiman, W. Deelen, and D. Halley (Feb 25)

G550X G->T at nt. 1780 exon 11

- T. Dörk, N. Kälin, and B. Tümmler (Feb 29)

E92X G->T at nt. 406 exon 4

R117C C->T at nt. 481 exon 4

- J.J. Cassiman, H. Cuppens, and P. Marynen (Mar 4)

S1235R T->G at nt. 3837 exon 19

- J. Zielenski, Y.H. Xia, and L.-C. Tsui (Mar 5)

441delA frameshift exon 4

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

C. Ferec (Mar 5)

F311L C->G at nt. 1065 exon 7

- M. Schwarz, G. Malone, and M. Super (Mar 16)

1138insG frameshift exon 7

- H. Cuppens, P. Marynen, and J.J. Cassiman (Mar 16)

4405+1/TGAG for GTGA intron 20

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

- J.J. Cassiman, H. Cuppens, and P. Marynen (Mar 4)

1342-13 (G or T) intron 8

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

C. Ferec (Mar 5)

3336 (C or T) exon 17b (no change Phe at 1067)

3. J. Cheadle and L. Meredith have noted a relatively high frequency of 1898+1G->A in their study population and recommended this mutation to other UK laboratories.

4. I am requesting permission to cite some of the unpublished mutations in a table to be submitted to the journal Human Mutations. Those investigators who have not yet responded to my letter, please kindly do so immediately.

5. A mutation reporting form was included in the last Newsletter. 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