Characterization of the− 16C> G sequence variation in the promoters of both HBG1 and HBG2: convergent evolution of the human γ-globin genes
KMK de Vooght, R van Wijk, HKP van Amstel… - Blood Cells, Molecules …, 2007 - Elsevier
We encountered a homozygous− 16C> G mutation in cis at identical positions in the
promoters of both human γ-globin genes in a subject who was also homozygous for
Hemoglobin C (HbC). Subsequent analysis of normal control individuals of African American
ancestry revealed that both mutations were always present in cis with an allelic frequency of
3%. Furthermore, 10 out of 11 HbC subjects carried the− 16C> G sequence variations,
suggesting an association with HbC. The− 16C> G mutation disrupts a putative CACCC box …
promoters of both human γ-globin genes in a subject who was also homozygous for
Hemoglobin C (HbC). Subsequent analysis of normal control individuals of African American
ancestry revealed that both mutations were always present in cis with an allelic frequency of
3%. Furthermore, 10 out of 11 HbC subjects carried the− 16C> G sequence variations,
suggesting an association with HbC. The− 16C> G mutation disrupts a putative CACCC box …