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1 December 2007 G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)
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Abstract

A population sample from São Tomé e Príncipe (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.

Licínio Manco, Laura R. Botigué, M. Letícia Ribeiro, and Augusto Abade "G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)," Human Biology 79(6), 679-686, (1 December 2007). https://doi.org/10.1353/hub.2008.0013
Received: 26 March 2007; Accepted: 1 July 2007; Published: 1 December 2007
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