G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in Sao Tomé e Príncipe (West Africa)

Document Type

Article

Authors

Licínio Manco, Universidade de CoimbraFollow
Laura R. Botigué, Universidade de Coimbra
M Letícia Ribeiro, Centro Hospitalar de Coimbra
Augusto Abade, Universidade de Coimbra

Abstract

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.

Recommended Citation

Manco, Licínio; Botigué, Laura R.; Ribeiro, M Letícia; and Abade, Augusto (2007) "G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in Sao Tomé e Príncipe (West Africa)," Human Biology: Vol. 79: Iss. 6, Article 7.
Available at: https://digitalcommons.wayne.edu/humbiol/vol79/iss6/7