title: Introduction of magnetic beads in diagnosis: a simple and rapid method to detect mutations of beta globin gene, directly amplified from blood.
abstract: In this communication we present the results obtained by the use of magnetic beads in diagnosis, for the identification of genetic variants at the molecular level by sequencing, in comparison with the more laborious method of the production of ssDNA with asymmetric PCR. We compared the two techniques studying variants of beta globin gene: Hb Abruzzo [beta 143 (H21) His -> Arg] and Hb D Los Angeles [beta 121 (GH4) Glu -> Gln].
authors.affiliation: Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche avanzate, Unità di Biostrumentazione, Milano, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Debernardi
authors.forename: G
authors.initials: G
authors.lastname: De Bellis
authors.forename: A
authors.initials: A
authors.lastname: Mosca
authors.forename: R
authors.initials: R
authors.lastname: Paleari
authors.forename: G
authors.initials: G
authors.lastname: Caramenti
authors.forename: I
authors.initials: I
authors.lastname: Consani
authors.forename: L
authors.initials: L
authors.lastname: Invernizzi
authors.forename: R
authors.initials: R
authors.lastname: Pergolizzi
authors.forename: M
authors.initials: M
authors.lastname: Scodeggio
authors.forename: M
authors.initials: M
authors.lastname: Luzzana
mesh_terms: D001483:Base Sequence; D005914:Globins / Q000235:genetics*; D006801:Humans; D008280:Magnetics; D008863:Microspheres; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D005914:Globins