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- W2023155433 abstract "There are three major African haplotypes associated with the sickle mutation: Benin (#19), Senegalese (#3), and Central African Repblic (#20). Previous studies have suggested that the Xmn I site (-158 bp 5′ to the Gγ gene) is associated with elevated levels of Gγ andwiththe Senegalesehaplotype, while other investigators questioned this association. In order to clarify theissue.we have determined βhalotypes, tested fortlie presenceof theXninI site, and measured HbF and Gγ expressionlevels in 143 AmericanBlackpatients with sickle cell anemia. Haplotypes were determined using eight polvmorphic sites in the β-like globin gene cluster: Hinc II 5′ to ϵ, Hind III in IVS-II Gγ and Aγ, Hinc II within and 3′ to φ β, Ava II in IVS-II of β, and Hpa I and Bani HI 3′ to β. The Gγ/Aγ ratio was analyzed by high performance liquid chromatography using a C18 column. The Xmn I site was present in all 31chromosomes with the Sengalese haplotype. Of the remaining 255 chromosomes with other haplotypes, only 2 (0.8%) had the Xmn I site present. Therewas significant correlation between the presence of the Xmn I site and increased Gγ/Aγ ratio in a dose-dependent manner.The Hb F level was not significantly, increased in thepresence of the Xmn I site.The data indicate that the Xmn I site maintains a Gγ/Aγ ratio typical of fetal life but does not necessarily cause elevation of Hb F. The latter seems to depend on factors other than the Xmn I site." @default.
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- W2023155433 date "1991-01-01" @default.
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- W2023155433 title "The XMN I Site (-158, C→T) 5′ to ttle<sup>G</sup><sub>γ</sub>GENE: Correlation with the Senegalese Haplotype and<sup>G</sup><sub>γ</sub>Globin Expression" @default.
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- W2023155433 doi "https://doi.org/10.3109/03630269108998859" @default.
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