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 language | English |
|---|---|
| Pages (from-to) | 309-310 |
| Number of pages | 2 |
| Journal | Human Genetics |
| Volume | 80 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Nov 1988 |
| Externally published | Yes |
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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
}
TY - JOUR
T1 - Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus
AU - Stanier, Philip
AU - Estivill, Xavier P.
AU - Lench, Nicholas
AU - Williamson, Robert
PY - 1988/11
Y1 - 1988/11
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0023796368&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0023796368&partnerID=8YFLogxK
U2 - 10.1007/BF01790107
DO - 10.1007/BF01790107
M3 - Article
C2 - 2461342
AN - SCOPUS:0023796368
VL - 80
SP - 309
EP - 310
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 3
ER -