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.
authors: SSR Medical Research Centre, University of Mauritius, Moka.
authors: R
authors: R
authors: Kotea
authors: J S
authors: JS
authors: Kaeda
authors: S L
authors: SL
authors: Yan
authors: N
authors: N
authors: Sem Fa
authors: S
authors: S
authors: Beesoon
authors: S
authors: S
authors: Jankee
authors: R
authors: R
authors: Ramasawmy
authors: T
authors: T
authors: Vulliamy
authors: R W
authors: RW
authors: Bradnock
authors: J
authors: J
authors: Bautista
authors: L
authors: L
authors: Luzzatto
authors: R
authors: R
authors: Krishnamoorthy
authors: P J
authors: PJ
authors: Mason
mesh_terms: D004586:Electrophoresis; D005953:Glycogen Storage Disease Type I / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008436:Mauritius / Q000208:ethnology; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic