Document Detail


Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations.
MedLine Citation:
PMID:  1347644     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In this report we describe the use of a DNA amplification technique in which modified primers introduce a base substitution adjacent to the codon of interest and create an artificial restriction site for the detection of mutations which do not produce or modify a naturally occurring restriction site (restriction site generating-polymerase chain reaction, RG-PCR). RG-PCR was developed and applied to the screening in an Italian population sample of several relatively common cystic fibrosis mutations which are not amenable to analysis with a known restriction endonuclease: G542X, 2869insG, Y913C, N1303K, and 1717-1GA. This method, which allows the identification of virtually any single base change by restriction enzyme analysis and without the need for molecular probes, is rapid and easy to perform. The combined use of RG-PCR for several different CF mutations in multiplex tests further expands the advantages of this approach.
Authors:
P Gasparini; A Bonizzato; M Dognini; P F Pignatti
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Molecular and cellular probes     Volume:  6     ISSN:  0890-8508     ISO Abbreviation:  Mol. Cell. Probes     Publication Date:  1992 Feb 
Date Detail:
Created Date:  1992-04-13     Completed Date:  1992-04-13     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8709751     Medline TA:  Mol Cell Probes     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1-7     Citation Subset:  IM    
Affiliation:
Institute of Biological Sciences, School of Medicine, University of Verona, Italy.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Cystic Fibrosis / genetics*
DNA, Single-Stranded / genetics*
Genetic Variation / genetics
Humans
Molecular Sequence Data
Mutation / genetics*
Polymerase Chain Reaction*
Polymorphism, Restriction Fragment Length
Chemical
Reg. No./Substance:
0/DNA, Single-Stranded

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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