The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis

We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation delta F508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homoz...

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Bibliographic Details
Published inHuman genetics Vol. 85; no. 4; p. 407
Main Authors Halley, D J, Veeze, H J, Sandkuyl, L A, Wesby-van Swaay, E, van Damme, N H, Deelen, W H, Witte, J E, Niermeijer, M F
Format Journal Article
LanguageEnglish
Published Germany 01.09.1990
Subjects
Adolescent
Adult
Age Factors
Child
Child, Preschool
Chromosome Deletion
Cystic Fibrosis - epidemiology
Cystic Fibrosis - genetics
Gene Frequency
Heterozygote
Humans
Infant
Infant, Newborn
Netherlands - epidemiology
Netherlands
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Summary:We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation delta F508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for delta F508 and the other patients. delta F508 homozygotes tend to be identified as patients at neonatal or infantile age. The age at diagnosis of patients with at least one unknown allele, on the other hand, ranged between neonatal and young adult age.
ISSN:0340-6717
DOI:10.1007/BF02428281