The Xmnl Site 5’ to the Gγ-Globin Gene Polymorphism and its Relationship to %Hb F and %Gγ in Normal Japanese and Korean Adults

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Abstract
The ratio of fetal hemoglobin to total hemoglobin (%Hb F), the ratio of Gγ to total γ globin (%Gγ), and the polymorphism of the XmnI site at –158 base pairs from the cap site of the Gγ-globin gene were examined in normal unrelated Japanese (n = 113) and Korean (n = 44) adults. The frequency of the presence of the XmnI site was 0.15 in the Japanese and 0.16 in the Korean population. There were statistically significant differences in the %Gγ values of the Japanese between those +/+ and those +/– or –/– at the XmnI site (p < 0.01). The Korean %Gγ values showed a statistically significant difference (p < 0.01) between those +/– and those –/–. The presence of the XmnI site was significantly associated with the elevation of Gγ-globin chain synthesis, but this relationship was not necessarily absolute. The absence of the XmnI site in an adult with a γ-globin gene triplication (Gγ AGγ Aγ/GγAγ) more or less reduced the level of Gγ-globin chain synthesis, but the presence of the XmnI site in an adult with a γ-globin gene deletion (GAγ/Gγ Aγ) had no effects on the proportion of the two γ-globin chains.

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