Detection and genetic analysis of beta-thalassemia mutations by competitive oligopriming.

TitleDetection and genetic analysis of beta-thalassemia mutations by competitive oligopriming.
Publication TypeJournal Article
Year of Publication1995
AuthorsAthanassiadou, A, Papachatzopoulou, A, Gibbs, RA
JournalHum Mutat
Volume6
Issue1
Pagination30-5
Date Published1995
ISSN1059-7794
KeywordsBase Sequence, beta-Thalassemia, DNA, DNA Mutational Analysis, DNA Primers, Globins, Humans, Molecular Sequence Data, Oligodeoxyribonucleotides
Abstract

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.

DOI10.1002/humu.1380060107
Alternate JournalHum. Mutat.
PubMed ID7550228