Human Genetics

, Volume 94, Issue 5, pp 513–517

At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria

Authors

  • Khedoudja Nafa
    • Centre de Transfusion Sanguine,CHU Mustapha
    • Department of HaematologyRoyal Post-graduate Medical School, Hammersmith Hospital
  • Abderrezak Reghis
    • Centre de Transfusion Sanguine,CHU Mustapha
  • Naima Osmani
    • Centre de Transfusion Sanguine,CHU Mustapha
  • Lamia Baghli
    • Centre de Transfusion Sanguine,CHU Mustapha
  • Hassen Aït-Abbes
    • Centre de Transfusion Sanguine,CHU Mustapha
  • Mohamed Benabadji
    • Centre de Transfusion Sanguine,CHU Mustapha
  • Jean-Claude Kaplan
    • ICGM, Institut Cochin de Génétique Moleculaire, INSERM U. 129
  • Tom Vulliamy
    • Department of HaematologyRoyal Post-graduate Medical School, Hammersmith Hospital
  • Lucio Luzzatto
    • Department of HaematologyRoyal Post-graduate Medical School, Hammersmith Hospital
Original Investigation

DOI: 10.1007/BF00211017

Cite this article as:
Nafa, K., Reghis, A., Osmani, N. et al. Hum Genet (1994) 94: 513. doi:10.1007/BF00211017

Abstract

The electrophoretic mobility and level of enzyme activity of glucose-6-phosphate dehydrogenase (G6PD) was established in 100 unrelated Algerian males with G6PD deficiency. DNA from these subjects was analysed for the presence of certain known G6PD mutations by the appropriate restriction enzyme digestion of fragments amplified by the polymerase chain reaction. Where the mutation could not be identified in this way, the samples were subjected to single-strand conformation polymorphism analysis and abnormal fragments were sequenced. In this way, eight different mutations have been identified, of which five are polymorphic and account for 92% of the samples. The most common variants are G6PD A-(46%) and G6PD Mediterranean (23%), both of which were associated with favism. A new polymorphic variant, G6PD Aures, has been identified during the course of this study, whereas another, G6PD Santamaria, has now been established as a polymorphic variant (11%). Thus, G6PD deficiency in Algeria is heterogeneous, suggesting that there has been significant gene flow, both from sub-Saharan Africa and from other parts of the Mediterranean.

Copyright information

© Springer-Verlag 1994