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  • Title: Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus.
    Author: Stanier P, Estivill X, Lench N, Williamson R.
    Journal: Hum Genet; 1988 Nov; 80(3):309-10. PubMed ID: 2461342.
    Abstract:
    The probe pCS.7, isolated from an HpaII tiny fragments (HTF) island and tightly linked to the mutation causing cystic fibrosis (CF), detects a polymorphism with the rare-cutter restriction enzyme BssHII. In a single digest, the resulting restriction fragment length polymorphism (RFLP) cannot be detected by either conventional or pulse-field gel electrophoresis. A double digest with BssHII in conjunction with a six-cutter restriction enzyme that does not recognize a site containing a CpG dinucleotide enables the probe to be used routinely for prenatal diagnosis and carrier exclusion. This strategy can be used to identify polymorphisms in HTF islands.
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