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 journalArticle

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 journalArticle

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.
@article{7054cfb3a5ad4112966b227d1c320eb4,
title = "Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus",
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.",
author = "Philip Stanier and Estivill, {Xavier P.} and Nicholas Lench and Robert Williamson",
year = "1988",
month = "11",
doi = "10.1007/BF01790107",
language = "English",
volume = "80",
pages = "309--310",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "3",

}

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 -