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The major cystic fibrosis mutation in a British population

✍ Scribed by C. J. McMahon; S. A. Genet; H. R. Middleton-Price; P. Rutland; M. E. Pembrey; S. Malcolm

Publisher: Springer
Year: 1990
Tongue: English
Weight: 152 KB
Volume: 86
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00197712

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✦ Synopsis

We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested pre-natal diagnosis in a future pregnancy. The AF508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromosome and the child was doubly deleted, In only 4 families, 2 of them being consanguineous, did neither parent carry a deleted chromosome. Meconium ileus was associated with children who were AF508/AF508, &F508/non-deleted and non-deleted/ non-deleted.

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