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Detection of eight beta-thalassemia mutations using a DNA enzyme immunoassay
A Colosimo1, G Novelli, A Cavicchini
1Cattedra di Genetica Umana e Medica, Università Tor Vergata di Roma, Italy.
Abstract:
We describe the use of a polymerase chain reaction-based method followed by a DNA enzyme immunoassay for the simultaneous detection of the eight most common beta-thalassemia mutations in the Mediterranean population. The method is specific, sensitive, and easily applicable in routine clinical laboratories for the molecular diagnosis of beta-thalassemia patients and at risk couples.