Bhagat Sanjana, Patra Pradeep Kumar, Thakur Amar Singh
Department of Biochemistry, Pt. J. N. M. Medical college, Raipur, Chhattisgarh, India;
Int J Biomed Sci. 2012 Mar;8(1):36-9.
The γ(G)-158 (C→T) polymorphism plays important function in the disease severity of sickle cell anemia. The XmnI restriction site at -158 position of the γ(G)-gene is associated with increased expression of the γ(G)-globin gene and higher production of HbF. This study aims to determine the frequency of the different genotypes of the γ(G) Xmn I polymorphism in sickle cell anemia and sickle cell trait patients in Chhattisgarh and its association with high HbF level. The Xmn1 polymorphic site was determined by PCR-RFLP procedure. XmnI polymorphism were studied in 100 sickle cell patients (SS), 50 sickle cell trait (AS) and 50 controls individuals (AA). The presence of XmnI (+/+) site in SS and AS patients associated with the increase of HbF (P<0.0001) synthesis. we also find that presence of one XmnI (+/-) site in SS patients compared with XmnI-/- site had not shows difference in HbF level. Polymorphic association is found between presence and absence of XmnI site with HbF level, in AS and AA individuals.
γ(G)-158（C→T）多态性在镰状细胞贫血的疾病严重程度中发挥重要作用。γ(G)基因-158位点的XmnI限制性酶切位点与γ(G)-珠蛋白基因表达增加和更高水平的HbF产生相关。本研究旨在确定恰蒂斯加尔邦镰状细胞贫血患者和镰状细胞性状患者中γ(G) Xmn I多态性不同基因型的频率及其与高HbF水平的关联。通过PCR-RFLP方法确定Xmn1多态性位点。对100例镰状细胞患者（SS）、50例镰状细胞性状患者（AS）和50例对照个体（AA）进行了XmnI多态性研究。SS和AS患者中XmnI（+/+）位点的存在与HbF合成增加相关（P<0.0001）。我们还发现，与XmnI-/-位点相比，SS患者中存在一个XmnI（+/-）位点在HbF水平上没有差异。在AS和AA个体中，发现XmnI位点的存在与否与HbF水平之间存在多态性关联。
