Effect of a group of genetic markers around the 5′ regulatory regions of the β globin gene cluster linked to high HbF on the clinical severity of β thalassemia
| Autor: | Pooja Dabke, Anita Nadkarni, Roshan B. Colah, Kanjaksha Ghosh |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Erythrocyte Indices Genetic Markers Adolescent Genotype Thalassemia beta-Globins Regulatory Sequences Nucleic Acid Biology Young Adult Intergenic region hemic and lymphatic diseases Gene Order medicine Humans Nucleotide Motifs Child Molecular Biology Gene Fetal Hemoglobin Genetics Polymorphism Genetic beta-Thalassemia Haplotype Infant Promoter Cell Biology Hematology medicine.disease Molecular biology β thalassemia intermedia Genetic marker Regulatory sequence Child Preschool Molecular Medicine 5' Untranslated Regions |
| Zdroj: | Blood Cells, Molecules, and Diseases. 50:156-160 |
| ISSN: | 1079-9796 |
| DOI: | 10.1016/j.bcmd.2012.11.003 |
| Popis: | The clinical and hematological course of β thalassemia intermedia is influenced by a number of genetic factors which play a role in increasing fetal haemoglobin levels. Several polymorphisms located in the promoters of β and γ globin gene are involved in influencing the disease severity. Our objective was to study the effect of cis-DNA haplotypes, motifs, or polymorphisms (Pre G γ globin gene haplotypes, Aγ–δ intergenic region haplotypes XmnI and (AT) x (T) y polymorphisms, β-LCR HS2 and HS3 site motifs) that may contribute to higher HbF levels and a milder clinical course. We found that a combination of T haplotype of the Aγ–δ intergenic region, TAG Pre-Gγ haplotype, presence of the XmnI polymorphism along with the (AT) 9 (T) 5 motif constitutes a topography that co-relates with raised HbF levels which may contribute in ameliorating the disease severity. |
| Databáze: | OpenAIRE |
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