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  • Title: Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.
    Author: Bienvenu T, Bousquet S, Herbulot C, Cartault F, Kaplan JC, Beldjord C.
    Journal: Hum Mutat; 1993; 2(4):306-8. PubMed ID: 7691353.
    Abstract:
    A rapid method for the diagnosis of the most frequent cystic fibrosis mutations in the Reunion Island is described based on a coamplification polymerase chain reaction (PCR) followed by a single digestion using MseI. We have used this strategy to detect the two most frequent mutations in this area: delta F508 (in exon 10) and Y122X (in exon 4). These two mutations account for 70% of the CF chromosomes. This diagnosis method, which is rapid, easy, direct, and inexpensive, allows adult and neonatal carrier screening in this population.
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