Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus

Philip Stanier, Xavier P. Estivill, Nicholas Lench, Robert Williamson

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)309-310
Number of pages2
JournalHuman Genetics
Volume80
Issue number3
DOIs
Publication statusPublished - Nov 1988
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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