Detection and genetic analysis of β-thalassemia mutations by competitive oligopriming

Laboratory of Biology Medical Faculty, University of Patras, Greece.
Human Mutation (Impact Factor: 5.14). 01/1995; 6(1):30-5. DOI: 10.1002/humu.1380060107
Source: PubMed


A new approach for the detection of beta-thalassemia mutations has been applied, based on competitive oligonucleotide priming (COP) of in vitro DNA amplification at the mutation site. This method allows genotyping of the template DNA, through differential labeling of the allele-specific competitive oligoprimers and biotinylation of the common reverse primer. The system provides a basis for rapid, simple, and reliable detection of the numerous known beta-thalassemia mutations, revealing the precise nature of the mismatch in each case, and thereby facilitating the molecular genetic analysis of the disease.

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