Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus
- 1 November 1988
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 80 (3) , 309-310
- https://doi.org/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 enzymeBssHII. 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 withBssHII 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.Keywords
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