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Detection of more than 94% cystic fibrosis mutations in a sample of belgian population and identification of four novel mutations

✍ Scribed by B. Mercier; W. Lissens; M. P. Audrézet; M. Bonduelle; I. Liebaers; C. Ferec

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 449 KB
Volume: 2
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380020104

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✦ Synopsis

We have analysed 194 Belgian CF chromosomes using a variety of techniques: AF508 was detected by polyacrylamide gel electrophoresis; dot blotting of PCR products was used to identify the mutations G542X, 1717-1 G + A, and N1303K; molecular defects in exons 2, 3 , 4 , 5, 6b, 7, 11, 12, 13, 14a, 14b, 17b, 19, 20, and 21 were screened for by DGGE. We identified 17 mutations, which accounted for 94.3% of the Belgian CF chromosomes. Four novel mutations and a novel polymorphism were characterized. The detection of such a high proportion of Belgian CF mutations is important in understanding the functional role of the molecule and in improving prenatal and genetic diagnosis of CF. o 1993 Wilev-Liss, Inc.

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