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

被引:16
作者
Kotea, R
Kaeda, JS
Yan, SLK
Fa, NS
Beesoon, S
Jankee, S
Ramasawmy, R
Vulliamy, T
Bradnock, RW
Bautista, J
Luzzatto, L
Krishnamoorthy, R
Mason, PJ
机构
[1] Univ London Imperial Coll Sci Technol & Med, Sch Med, Hammersmith Hosp, Dept Haematol, London W12 0NN, England
[2] Univ Mauritius, SSR Med Res Ctr, Moka, Mauritius
[3] Univ London, Sch Oriental & African Studies, Dept Geog, London, England
[4] Mem Sloan Kettering Canc Ctr, Dept Human Genet, New York, NY 10021 USA
[5] Hop Robert Debre, INSERM, U120, F-75019 Paris, France
关键词
G6PD Orissa; deficiency; Indians; Mauritius;
D O I
10.1046/j.1365-2141.1999.01230.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 I 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 poymorphic 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.
引用
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页码:849 / 854
页数:6
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