title: Protein characterization by LC-MS/MS may be required for the DNA identification of a fusion hemoglobin: the example of Hb P-Nilotic.
abstract: DNA analysis is currently the easiest way to identify a hemoglobin variant in most cases. Nevertheless, in case of complex gene rearrangements, mass spectrometry studies may be required to orientate the DNA diagnosis. The present report shows the use of mass spectrometry techniques prior to DNA analysis for the identification of the rare P-Nilotic fusion hemoglobin. Complete protein analysis is performed by liquid chromatography-tandem mass spectrometry on the abnormal globin chain isolated by reversed-phase liquid chromatography.
authors.affiliation: UMS 3444 BioSciences Gerland-Lyon Sud, CCMP, IBCP FR3302 CNRS, Université Claude Bernard-Lyon 1, Lyon, France. i.zanella-cleon@ibcp.fr
authors.forename: Isabelle
authors.initials: I
authors.lastname: Zanella-Cleon
authors.forename: Frédéric
authors.initials: F
authors.lastname: Delolme
authors.forename: Philippe
authors.initials: P
authors.lastname: Lacan
authors.forename: Caroline
authors.initials: C
authors.lastname: Garcia
authors.forename: Isabelle
authors.initials: I
authors.lastname: Vinatier
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
mesh_terms: D000595:Amino Acid Sequence; D002853:Chromatography, Liquid / Q000379:methods*; D056148:Chromatography, Reverse-Phase; D004247:DNA / Q000032:analysis* / Q000235:genetics; D050939:Gene Fusion; D015321:Gene Rearrangement; D014644:Genetic Variation; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D015203:Reproducibility of Results; D016415:Sequence Alignment; D053719:Tandem Mass Spectrometry / Q000379:methods*
chemical_list: D006455:Hemoglobins, Abnormal; C049659:hemoglobin P-Nilotic; D004247:DNA