Literature DB >> 2079433

New results of hemoglobin variant structure determinations by fast atom bombardment mass spectrometry.

C Lacombe1, D Promé, Y Blouquit, J Bardakdjian, N Arous, A Mrad, J C Promé, J Rosa.   

Abstract

Fast atom bombardment mass spectrometry has already been used for the identification of mutations in abnormal human hemoglobin chains. This paper presents new results obtained with this technique. The methodology used here is compared with more conventional biochemical techniques and automated microsequencing. In every case, a well-chosen combination of peptide-high performance liquid chromatography, mass spectrometry, amino acid analysis, and sequence analysis led rapidly to the identification of the mutant. The high sensitivity of these techniques holds great promise for the analysis of molecular abnormalities in various genetic disorders presently detectable only by the application of a molecular biological approach.

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Year:  1990        PMID: 2079433     DOI: 10.3109/03630269009005806

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  3 in total

1.  Use of combined mass spectrometry methods for the characterization of a new variant of human hemoglobin: The double mutant hemoglobin villeparisis β77(EF1) His → Tyr, β 80 (EF4) Asn → Ser.

Authors:  D Promé; C Deon; J C Promé; H Wajcman; F Galacteros; Y Blouquit
Journal:  J Am Soc Mass Spectrom       Date:  1996-02       Impact factor: 3.109

2.  Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity.

Authors:  H Wajcman; E Girodon; D Promé; M L North; F Plassa; I Duwig; J Kister; J P Bergerat; F Oberling; E Lampert
Journal:  Hum Genet       Date:  1995-12       Impact factor: 4.132

Review 3.  Abnormal haemoglobins: detection & characterization.

Authors:  Henri Wajcman; Kamran Moradkhani
Journal:  Indian J Med Res       Date:  2011-10       Impact factor: 2.375

  3 in total

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