Molecular characterization of G6PD deficiency in Oman

Shahina Daar, Tom J. Vulliamy, Jaspal Kaeda, Philip J. Mason, Lucio Luzzatto

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32 Citations (Scopus)

Abstract

Screening of unselected university students in the Sultanate of Oman revealed an overall frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency of 26% in males. Samples from 23 G6PD-deficient individuals (a random sub-sample of the student population), were characterised biochemically and at the molecular level. Of 20 deficient men, 15 had G6PD Mediterranean, 2 had G6PD Chatham, 1 had G6PD A- and in 2 the mutation is not yet known. Of the 3 G6PD-deficient woman, 2 were homozygous for the G6PD Mediterranean mutation and 1 was a genetic compound, G6PD Mediterranean/G6PD A- (the first report of this genotype). Our findings establish that the G6PD Mediterranean mutation accounts for most cases of G6PD deficiency in Oman. The presence of G6PD A- at a polymorphic frequency can be regarded as evidence of significant gene flow from Africa.

Original languageEnglish
Pages (from-to)172-176
Number of pages5
JournalHuman Heredity
Volume46
Issue number3
Publication statusPublished - May 1996

Keywords

  • G6PD deficiency
  • Omani population
  • Population study

ASJC Scopus subject areas

  • Genetics(clinical)

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    Daar, S., Vulliamy, T. J., Kaeda, J., Mason, P. J., & Luzzatto, L. (1996). Molecular characterization of G6PD deficiency in Oman. Human Heredity, 46(3), 172-176.