title: Detection of eight beta-thalassemia mutations using a DNA enzyme immunoassay.
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.
authors.affiliation: Cattedra di Genetica Umana e Medica, Università Tor Vergata di Roma, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Colosimo
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: A
authors.initials: A
authors.lastname: Cavicchini
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D004247:DNA / Q000032:analysis*; D005914:Globins / Q000235:genetics; D006801:Humans; D007124:Immunoenzyme Techniques; D007558:Italy; D008403:Mass Screening / Q000379:methods; D008832:Microchemistry; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D012680:Sensitivity and Specificity; D017186:Titrimetry; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA