A population sample from Sao 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.
Manco, Licínio; Botigué, Laura R.; Ribeiro, M Letícia; and Abade, Augusto
"G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in Sao Tomé e Príncipe (West Africa),"
6, Article 7.
Available at: http://digitalcommons.wayne.edu/humbiol/vol79/iss6/7