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

Hum Genet. 1988 Nov;80(3):309-10. doi: 10.1007/BF01790107.

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.

MeSH terms

  • Alleles
  • Cystic Fibrosis / genetics*
  • Deoxyribonuclease HpaII
  • Deoxyribonucleases, Type II Site-Specific
  • Dinucleoside Phosphates*
  • Female
  • Genetic Markers
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*

Substances

  • Dinucleoside Phosphates
  • Genetic Markers
  • cytidylyl-3'-5'-guanosine
  • Deoxyribonuclease HpaII
  • Deoxyribonucleases, Type II Site-Specific