Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)

Sergi Castellví-Bel, Toni Matilla, Maria Isabel Banchs, Helena Kruyer, Jordi Corral, Montserrat Milà, Xavier P. Estivill

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

We have used a non-isotopic PCR assay based on the chemiluminescent detection of blotted PCR products (CB-PCR) for two dynamic mutation diseases (Huntington's disease and spinocerebellar ataxia type 1). This gives an accurate sizing of alleles and permits a rapid analysis of at risk persons. The system involves PCR of the samples, separation of alleles on polyacrylamide gels, Southern blotting, and hybridisation with specific primers 3' labelled with fluorescein (Fl)-dUTP as probes. CB-PCR retains the isotopic sensitivity for accurate allele determination, avoids isotopic manipulation, and provides the advantages of safety, long term storage of probes, and recycling of hybridisation solutions.

Original languageEnglish
Pages (from-to)654-655
Number of pages2
JournalJournal of Medical Genetics
Volume31
Issue number8
Publication statusPublished - Aug 1994
Externally publishedYes

Fingerprint

Spinocerebellar Ataxias
Huntington Disease
Polymerase Chain Reaction
Mutation
Alleles
Recycling
Southern Blotting
Fluorescein
Safety

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1). / Castellví-Bel, Sergi; Matilla, Toni; Banchs, Maria Isabel; Kruyer, Helena; Corral, Jordi; Milà, Montserrat; Estivill, Xavier P.

In: Journal of Medical Genetics, Vol. 31, No. 8, 08.1994, p. 654-655.

Research output: Contribution to journalArticle

Castellví-Bel, Sergi ; Matilla, Toni ; Banchs, Maria Isabel ; Kruyer, Helena ; Corral, Jordi ; Milà, Montserrat ; Estivill, Xavier P. / Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1). In: Journal of Medical Genetics. 1994 ; Vol. 31, No. 8. pp. 654-655.
@article{7158c7614e804285971168b625988c0e,
title = "Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)",
abstract = "We have used a non-isotopic PCR assay based on the chemiluminescent detection of blotted PCR products (CB-PCR) for two dynamic mutation diseases (Huntington's disease and spinocerebellar ataxia type 1). This gives an accurate sizing of alleles and permits a rapid analysis of at risk persons. The system involves PCR of the samples, separation of alleles on polyacrylamide gels, Southern blotting, and hybridisation with specific primers 3' labelled with fluorescein (Fl)-dUTP as probes. CB-PCR retains the isotopic sensitivity for accurate allele determination, avoids isotopic manipulation, and provides the advantages of safety, long term storage of probes, and recycling of hybridisation solutions.",
author = "Sergi Castellv{\'i}-Bel and Toni Matilla and Banchs, {Maria Isabel} and Helena Kruyer and Jordi Corral and Montserrat Mil{\`a} and Estivill, {Xavier P.}",
year = "1994",
month = "8",
language = "English",
volume = "31",
pages = "654--655",
journal = "Shock",
issn = "1073-2322",
publisher = "BMJ Publishing Group",
number = "8",

}

TY - JOUR

T1 - Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)

AU - Castellví-Bel, Sergi

AU - Matilla, Toni

AU - Banchs, Maria Isabel

AU - Kruyer, Helena

AU - Corral, Jordi

AU - Milà, Montserrat

AU - Estivill, Xavier P.

PY - 1994/8

Y1 - 1994/8

N2 - We have used a non-isotopic PCR assay based on the chemiluminescent detection of blotted PCR products (CB-PCR) for two dynamic mutation diseases (Huntington's disease and spinocerebellar ataxia type 1). This gives an accurate sizing of alleles and permits a rapid analysis of at risk persons. The system involves PCR of the samples, separation of alleles on polyacrylamide gels, Southern blotting, and hybridisation with specific primers 3' labelled with fluorescein (Fl)-dUTP as probes. CB-PCR retains the isotopic sensitivity for accurate allele determination, avoids isotopic manipulation, and provides the advantages of safety, long term storage of probes, and recycling of hybridisation solutions.

AB - We have used a non-isotopic PCR assay based on the chemiluminescent detection of blotted PCR products (CB-PCR) for two dynamic mutation diseases (Huntington's disease and spinocerebellar ataxia type 1). This gives an accurate sizing of alleles and permits a rapid analysis of at risk persons. The system involves PCR of the samples, separation of alleles on polyacrylamide gels, Southern blotting, and hybridisation with specific primers 3' labelled with fluorescein (Fl)-dUTP as probes. CB-PCR retains the isotopic sensitivity for accurate allele determination, avoids isotopic manipulation, and provides the advantages of safety, long term storage of probes, and recycling of hybridisation solutions.

UR - http://www.scopus.com/inward/record.url?scp=0027964347&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027964347&partnerID=8YFLogxK

M3 - Article

VL - 31

SP - 654

EP - 655

JO - Shock

JF - Shock

SN - 1073-2322

IS - 8

ER -