1. G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)
- Author
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Laura R. Botigué, M. Letícia Ribeiro, Licínio Manco, and Augusto Abade
- Subjects
Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Locus (genetics) ,Glucosephosphate Dehydrogenase ,West africa ,hemic and lymphatic diseases ,parasitic diseases ,Genetics ,Humans ,Allele ,Genetics (clinical) ,Ecology, Evolution, Behavior and Systematics ,Polymorphism, Genetic ,biology ,Mexican mestizo ,Haplotype ,nutritional and metabolic diseases ,FokI ,Africa, Western ,Glucosephosphate Dehydrogenase Deficiency ,Haplotypes ,biology.protein ,Microsatellite ,Female ,Restriction fragment length polymorphism ,Polymorphism, Restriction Fragment Length - Abstract
A population sample from Sao Tome e Principe (West Africa) was screened for the G6PD-deficient variants A– (376G/202A), Betica (376G/968C), and Santa Maria (376G/542T). G6PD locus haplotype diversity was also investigated using six intragenic RFLPs (FokI, PvuII, BspHI, PstI, BclI, NlaIII) and a (CTT)n microsatellite 18.61 kb within the G6PD locus. The estimated frequencies of the G6PD*B normal allele, the G6PD*A variant (376G), and the G6PD*A– allele were 0.698, 0.194, and 0.108, respectively. G6PD variants Betica and Santa Maria were not found. Similar levels of microsatellite diversity were found on variants G6PD*B and G6PD*A (H= 0.61 and 0.68, respectively), indicating a similar age for both alleles. All G6PD*A– alleles share the RFLP-microsatellite haplotype ++–+–+/195, the same haplotype described in nearly all the *A– alleles from sub-Saharan, Mexican Mestizo, and Portuguese populations, consistent with a single and recent origin of the G202A mutation on this *A haplotype.
- Published
- 2007
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