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 journal › Article

1 Citation (Scopus)

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

Fingerprint

CpG Islands
Islands
Cystic Fibrosis
Restriction Fragment Length Polymorphisms
Enzymes
Prenatal Diagnosis
Electrophoresis
Gels
Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus. / Stanier, Philip; Estivill, Xavier P.; Lench, Nicholas; Williamson, Robert.

In: Human Genetics, Vol. 80, No. 3, 11.1988, p. 309-310.

Research output: Contribution to journal › Article

Stanier, P, Estivill, XP, Lench, N & Williamson, R 1988, 'Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus', Human Genetics, vol. 80, no. 3, pp. 309-310. https://doi.org/10.1007/BF01790107
Stanier P, Estivill XP, Lench N, Williamson R. Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus. Human Genetics. 1988 Nov;80(3):309-310. https://doi.org/10.1007/BF01790107
Stanier, Philip ; Estivill, Xavier P. ; Lench, Nicholas ; Williamson, Robert. / Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus. In: Human Genetics. 1988 ; Vol. 80, No. 3. pp. 309-310.
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