Human Genetics

, Volume 88, Issue 6, pp 688–690 | Cite as

Molecular heterogeneity underlying the G6PD Mediterranean phenotype

  • C. M. Corcoran
  • V. Calabrò
  • G. Tamagnini
  • M. Town
  • B. Haidar
  • T. J. Vulliamy
  • P. J. Mason
  • L. Luzzatto
Short Communications

Summary

As part of a study aiming to define the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency, we analysed a sample from a Portugese boy with a family history of favism. Although the biochemical properties of red-cell G6PD from this subject were similar to those of the common variant G6PD Mediterranean, the corresponding mutation (563 C→T) was not present. Instead, polymerase chain reaction (PCR) amplification and sequencing of the entire gene detected a C→T transition at nucleotide 592 in exon VI, changing an arginine residue to a cysteine residue only 10 amino acids downstream from the Mediterranean mutation. Single-strand conformation polymorphism analysis of a PCR-amplified DNA fragment spanning exons VI and VII of the G6PD gene has detected the same mutation, confirmed by sequencing, in a G6PD-deficient patient from Southern Italy. We name this new variant G6PD Coimbra.

Keywords

Arginine Residue Molecular Heterogeneity Conformation Polymorphism Analysis G6PD Gene Span Exon 

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Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • C. M. Corcoran
    • 1
  • V. Calabrò
    • 1
  • G. Tamagnini
    • 2
  • M. Town
    • 1
  • B. Haidar
    • 1
  • T. J. Vulliamy
    • 1
  • P. J. Mason
    • 1
  • L. Luzzatto
    • 1
  1. 1.Department of Haematology, Royal Postgraduate Medical SchoolHammersmith HospitalLondonUK
  2. 2.Servicio De HaematologiaCentro Hospitalar De CoimbraCoimbraPortugal

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