Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E
| Autor: | Kanokporn Triwitayakorn, Suthat Fucharoen, Saovaros Svasti, Pranee Winichagoon, Chayanon Peerapittayamongkol, Riyaz Ahmad Pandit, Thongperm Munkongdee, Orapan Sripichai |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Adolescent Thalassemia Quantitative Trait Loci Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Exon Fetal hemoglobin medicine Humans HSP70 Heat-Shock Proteins Child Alleles Fetal Hemoglobin Genome Human Hemoglobin E beta-Thalassemia Hematology Exons medicine.disease Molecular biology Abnormal hemoglobin Hemoglobinopathy Child Preschool Hemoglobin F Female |
| Zdroj: | International journal of hematology. 88(4) |
| ISSN: | 1865-3774 |
| Popis: | Increase in fetal hemoglobin (Hb F) reduces globin chain imbalance in beta-thalassemia, consequently improving symptoms. QTL mapping together with previous genome-wide association study involving approximately 110,000 gene-based SNPs in mild and severe beta(0)-thalassemia/Hb E patients revealed SNPs in HBS1L significantly associated with severity and Hb F levels. Given its potential as binding site for transcription factor activator protein 4, HBS1L exon 1 C32T polymorphism was genotyped in 455 cases, providing for the first time evidence that C allele is associated with elevated Hb F level among beta(0)-thalassemia/Hb E patients with XmnI-(G)gamma-/-and XmnI-(G)gamma+/-polymorphisms. |
| Databáze: | OpenAIRE |
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