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Role of XmnI restriction site polymorphism and JAK2 gene mutation in β-Thalassemia

Author Affiliations

  • 1 Department of Biotechnology, DVR & HS MIC College of Technology, Kanchikacherla, AP, INDIA

Int. Res. J. Biological Sci., Volume 2, Issue (1), Pages 41-45, January,10 (2013)


-Thalassemia is one of the most prevalent hereditary disorder in the world. It is the most common hemoglobin disorder found in the Indian sub continent, caused by point mutations or more rarely deletions in the -globin gene on chromosome 11, leading to reduced () or absent () synthesis of the chains of hemoglobin (Hb). The objective of this study is to understand the role of modifier genes and their polymorphic forms in amelioration or deterioration of the disease and severity of -thalassemias. The XmnI polymorphic site was determined by PCR-RFLP procedure. The XmnI restriction site at -158 position of the -gene is associated with increased expression of the -globin gene and higher production of HbF. The levels of and chains were detected by HPLC. JAK2 V617F mutation indicate the phenotypic variations and for predicting the risk of major clinical events. In allele specific polymerase chain reaction (PCR) V617F mutation independently predicted the evolution toward large splenomegaly.


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