Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus.
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.
Stanier
P
P
Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, University of London, UK.
Estivill
X
X
Lench
N
N
Williamson
R
R
D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D015226:Dinucleoside Phosphates; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D015226:Dinucleoside Phosphates; D005819:Genetic Markers; C015772:CpG dinucleotide