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Closed relationship of ?E-allele and high HbF associated cis-loci: Case studies in Thai HbE/ ?-thalassemia families |
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| รหัสดีโอไอ | |
| Creator | 1. Lamplimas Tangpan 2. Thanusak Tatu |
| Title | Closed relationship of ?E-allele and high HbF associated cis-loci: Case studies in Thai HbE/ ?-thalassemia families |
| Publisher | Faculty of Associated Medical Sciences, Chiang Mai University |
| Publication Year | 2558 |
| Journal Title | Journal of Associated Medical Sciences |
| Journal Vol. | 48 |
| Journal No. | 2 |
| Page no. | 88-99 |
| Keyword | HbE/?O-thalassemia, HbF, ?-globin haplotype, ?-globin mutations, cis-acting loci |
| ISSN | 1255347 |
| Abstract | Introduction : Previous statistical analyses have demonstrated linkage disequilibrium of ?E-allele and surrounding in-cis sequences.Objective : To confirm the linkage disequilibrium of ?E-allele and surrounding in-cis sequences.Materials and Methods : Associations of the ?E-allele with the ?-globin haplotype, (AT)xNz(AT)y motif of ?LCR-HS2, XmnI-Gg polymorphism, pre-Gg framework, (TG)n motif in IVSII of Ag-globin gene and HBBP1 : rs2071348 polymorphism were analyzed in three Thai HbE/?O-thalassemia families.Results : The ?E-allele was always in-cis with the ?-globin haplotype III, pre Gg-framework 2, XmnI+, (TG)13 motif within IVSII of Ag- globin gene and "C" at HBBP1 : rs2071348 locus, all previously shown to be associated with high HbF expression. Combination of the (AT)9N12(AT)10 motif of ?LCR-HS2 and these cis-acting factors seemed to be required for maximum HbF-expression.Conclusion : This family study substantially confirmed the linkage between the ?E allele and cis-acting loci associated with high HbF phenotype. This study also highlighted the closed relationship between HbE and HbF as well as the need of combination of the analyzed cis-acting sequences in activating HbF expression in human. |
