Establishment of a combined strategy of genetic and mass spectrometric analyses for characterizing hemoglobin mutations - An example of Hb Hoshida (beta 43Glu -> Gln)

Citation
R. Kaneko et al., Establishment of a combined strategy of genetic and mass spectrometric analyses for characterizing hemoglobin mutations - An example of Hb Hoshida (beta 43Glu -> Gln), J CHROMAT B, 731(1), 1999, pp. 125-130
Citations number
14
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Chemistry & Analysis
Journal title
JOURNAL OF CHROMATOGRAPHY B
ISSN journal
1387-2273 → ACNP
Volume
731
Issue
1
Year of publication
1999
Pages
125 - 130
Database
ISI
SICI code
1387-2273(19990806)731:1<125:EOACSO>2.0.ZU;2-6
Abstract
Structural analysis of mutant hemoglobins has been efficiently accomplished by a consecutive mass spectrometric strategy: molecular mass measurement o f the protein to detect mutation and to determine the molecular mass change , and fragmentation analysis with collision-induced dissociation to determi ne the site and type of mutation. A flaw of this method is an inherent inab ility to detect a mutation associated with no or little change of the molec ular mass. In the present study, the strategy was improved by incorporating genetic analysis prior to mass spectrometry, which confirms the resulting amino acid change and searches for possible post-translational modification s. The method was applied to an unknown mutant, and elucidated a substituti on of glutamine for glutamic acid at position 43 of beta-globin subunit, th e mutation of Hb Hoshida. (C) 1999 Elsevier Science B.V. All rights reserve d.