Academic
Publications
Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a β 0-thalassemia chromosome

Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a β 0-thalassemia chromosome,10.1016/j.bcmd.2010.1

Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a β 0-thalassemia chromosome  
BibTex | RIS | RefWorks Download
The −158 (C→T) nucleotide change, known as Xmn I polymorphism, occurs in Gγ-globin gene promoter, and results in elevated fetal hemoglobin (HbF). We found this mutation in cis of a β0-thalassemia splicing mutation. Despite the complete absence of adult HbA, the phenotype was only moderately severe with no detectable alteration of α-globin gene expression. Interestingly, the β-globin locus haplotype has not been described to bear the Gγ promoter mutation. Using a gene-specific real-time RT-PCR approach, we found a dramatic increase of both Gγ and Aγ mRNA accumulated in the reticulocytes, suggesting that the Gγ-promoter mutation, alone or in association with another genetic modification, alters in concert the transcription of both Gγ and Aγ. This observation is discussed in light of recent regulatory model for β-globin locus.
Journal: Blood Cells Molecules and Diseases - BLOOD CELLS MOLECULES DIS , vol. 46, no. 2, pp. 133-138, 2011
Cumulative Annual
View Publication
The following links allow you to view full publications. These links are maintained by other sources not affiliated with Microsoft Academic Search.