title: Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria.
abstract: Porphyrias are disorders caused by the genetic defects of enzymes of the heme pathway and are characterized by such a wide genetic heterogeneity that even the molecular analysis is not always decisive for a correct diagnosis. In the past few years, deletion with a size range of few kilobase pairs have been reported. These peculiar mutations, missed by both sequencing and cytogenetic techniques, have been identified by time consuming and technically demanding methods. To provide a rapid and sensitive method for the detection of deletions responsible for porphyria, we successfully designed and tested seven chemically synthesized probe sets specific for each heme gene and their flanking regions, to be used in multiplex ligation-dependent probe amplification technique.
authors.affiliation: Dipartimento di Medicina Interna, Università degli Studi di Milano-Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Fondazione IRCCS, Milano, Italy. elena.dipierro@unimi.it
authors.forename: Elena
authors.initials: E
authors.lastname: Di Pierro
authors.forename: Valentina
authors.initials: V
authors.lastname: Brancaleoni
authors.forename: Valeria
authors.initials: V
authors.lastname: Besana
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D015342:DNA Probes; D006418:Heme / Q000378:metabolism*; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011164:Porphyrias / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism
chemical_list: D015342:DNA Probes; D006418:Heme; D011163:Hydroxymethylbilane Synthase