See Panich et al. (1972). A G-to-A change at base 487 (exon 6) leads to substitution of serine for glycine at amino acid 163 (Vulliamy, 1989). This mutation is polymorphic in Southeast Asia, causes class 2 enzyme derangement, and is associated with a new AluI site (Vulliamy et al., 1989). The same mutation was identified by Tang et al. (1992) in a Taiwanese in Taiwan.
Matsuoka et al. (2004) found that 11% of blood samples from persons in remote areas of Myanmar (former Burma) indicated G6PD deficiency. Taken together with data from a previous report (Iwai et al., 2001), these findings indicated that 91.3% of G6PD variants were G6PD Mahidol. The findings suggested that the Myanmar population is derived from homogeneous ancestries different from those of Thai, Malaysian, and Indonesian populations.
Louicharoen et al. (2009) investigated the effect of the G6PD-Mahidol 487A variant on human survival related to P. vivax and P. falciparum malaria in Southeast Asia. They showed that strong and recent positive selection has targeted the Mahidol variant over the past 1,500 years. The authors found that the G6PD-Mahidol variant reduces vivax, but not falciparum, parasite density in humans, which indicates that P. vivax has been a driving force behind the strong selective advantage conferred by this mutation.
