Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a ß0-thalassemia chromosome.
Blood Cells Mol Dis
; 46(2): 133-8, 2011 Feb 15.
Article
en En
| MEDLINE
| ID: mdl-21144779
ABSTRACT
The -158 (CâT) nucleotide change, known as Xmn I polymorphism, occurs in (G)γ-globin gene promoter, and results in elevated fetal hemoglobin (HbF). We found this mutation in cis of a ß(0)-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 ß-globin locus haplotype has not been described to bear the (G)γ promoter mutation. Using a gene-specific real-time RT-PCR approach, we found a dramatic increase of both (G)γ and (A)γ mRNA accumulated in the reticulocytes, suggesting that the (G)γ-promoter mutation, alone or in association with another genetic modification, alters in concert the transcription of both (G)γ and (A)γ. This observation is discussed in light of recent regulatory model for ß-globin locus.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Hemoglobina Fetal
/
Desoxirribonucleasas de Localización Especificada Tipo II
/
Talasemia beta
/
Globinas alfa
/
Globinas beta
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Child
/
Female
/
Humans
País/Región como asunto:
Africa
Idioma:
En
Revista:
Blood Cells Mol Dis
Asunto de la revista:
HEMATOLOGIA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Francia