Literature DB >> 10192449

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

R Kotea1, J S Kaeda, S L Yan, N Sem Fa, S Beesoon, S Jankee, R Ramasawmy, T Vulliamy, R W Bradnock, J Bautista, L Luzzatto, R Krishnamoorthy, P J Mason.   

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.

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Year:  1999        PMID: 10192449     DOI: 10.1046/j.1365-2141.1999.01230.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN: 0007-1048            Impact factor:   6.998


  7 in total

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  7 in total

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