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  • Title: Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients.
    Author: Wauters JG, Hendrickx J, Coucke P, Vits L, Stuer K, van Schil L, van der Auwera BJ, Van Elsen A, Dumon J, Willems PJ.
    Journal: Clin Genet; 1991 Feb; 39(2):89-92. PubMed ID: 1673094.
    Abstract:
    Cloning and sequencing of the CF gene has identified a three-base-pair deletion (delta F508) responsible for CF in the majority of CF patients (Kerem et al. 1989). We have used the polymerase chain reaction with oligonucleotide primers bridging the delta F508 deletion to analyze the presence or absence of this mutation in the Belgian CF population. The delta F508 mutation was present in 80% (57 on 71) of CF chromosomes from 36 unrelated Belgian CF families from the region of Antwerp. This mutation was associated with haplotype B for the KM.19-XV-2c RFLPs as 93% (53 on 57) of the CF chromosomes with the delta F508 mutation carried haplotype B.
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