Three major G6PD-deficient polymorphic variants identified among the Mauritian population Journal Article


Authors: Kotea, R.; Kaeda, J. S.; Yan, S. L. K.; Sem Fa, N.; Beesoon, S.; Jankee, S.; Ramasawmy, R.; Vulliamy, T.; Bradnock, R. W.; Bautista, J.; Luzzatto, L.; Krishnamoorthy, R.; Mason, P. J.
Article Title: Three major G6PD-deficient polymorphic variants identified among the Mauritian population
Abstract: We report the results of the first epidemiological study investigating glucose 6-phosphate dehydrogenase (G6PD) deficiency among the heterogenous Mauritian population. Mauritius has a population of approximately 1 million, and of these 66.8% are Indo-Mauritian (of Indian origin), 27.9% are Creoles (of African ancestry) and 2.1% are Sino-Mauritian, predominantly of Chinese origin. Of the 1435 Mauritian males tested, 73 (5.1%) were G6PD deficient. However, the prevalence varied considerably between the two major ethnic groups: 35/1157 (3.0%) for Indo-Mauritians and 37/267 (13.9%) for Creoles. Molecular analysis revealed three major deficient polymorphic variants; G6PD Orissa, G6PD Mediterranean and G6PD A-, G6PD Orissa (nt 131 G→C; residue 44 Ala→Gly) was found to be the most common variant among Indo-Mauritians; this deficient variant was recently identified to be highly characteristic of the tribal groups in central India. In Creoles the most common deficient variant was G6PD A- (27/37). These data are consistent with the different ancestral contributions to the present gene pool of the Mauritian population. This study has provided further information as to the precise nature of G6PD deficiency at the molecular level among Indians, about whom previously there was scant information. The data presented suggest that G6PD Orissa is widespread in central and Southern states of India. Additionally, the identification and frequency of G6PD-deficient alleles in Mauritius is of public-health importance.
Keywords: adolescent; adult; child; aged; major clinical study; mutation; allele; hemolysis; prevalence; gene frequency; gene mapping; india; oxidative stress; polymorphism, genetic; electrophoresis; genetic polymorphism; enzyme deficiency; deficiency; glucose 6 phosphate dehydrogenase deficiency; indians; humans; human; male; priority journal; article; g6pd orissa; mauritius; glycogen storage disease type i
Journal Title: British Journal of Haematology
Volume: 104
Issue: 4
ISSN: 0007-1048
Publisher: John Wiley & Sons  
Date Published: 1999-03-01
Start Page: 849
End Page: 854
Language: English
PUBMED: 10192449
PROVIDER: scopus
DOI: 10.1046/j.1365-2141.1999.01230.x
DOI/URL:
Notes: Article -- Export Date: 16 August 2016 -- Source: Scopus
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  1. Lucio Luzzatto
    105 Luzzatto