title: Simple fluorescent PCR method for detection of large deletions in the beta-globin gene cluster.
abstract: We developed a semi-automated approach to detect large deletions in the beta-globin gene cluster, based on the quantitative differences in the amplifications of samples by a fluorescent PCR. With this strategy, we were able to detect the presence of HPFH-2 in an African-Brazilian subject, confirmed by sequencing analysis. Differently from other PCR strategies, GAP-PCR for example, it has the potential to identify new deletions.
authors.affiliation: Hematology-Hemotherapy Center, State University of Campinas, UNICAMP, Brazil.
authors.forename: Tiago Gomes
authors.initials: TG
authors.lastname: De Andrade
authors.forename: Sara Teresinha Olalla
authors.initials: ST
authors.lastname: Saad
authors.forename: Maria de Fatima
authors.initials: Mde F
authors.lastname: Sonati
authors.forename: Fernando Ferreira
authors.initials: FF
authors.lastname: Costa
mesh_terms: D000349:Africa / Q000208:ethnology; D001938:Brazil; D005319:Fetal Hemoglobin / Q000032:analysis; D005456:Fluorescent Dyes; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006402:Hematologic Diseases / Q000235:genetics; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D013789:Thalassemia / Q000235:genetics
chemical_list: D005456:Fluorescent Dyes; D005914:Globins; D005319:Fetal Hemoglobin