首页> 外文期刊>International Journal of Biomedical Science >Association between XmnI Polymorphism and HbF Level in Sickle Cell Disease Patients from Chhattisgarh
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Association between XmnI Polymorphism and HbF Level in Sickle Cell Disease Patients from Chhattisgarh

机译:恰蒂斯加尔邦镰状细胞病患者XmnI多态性与HbF水平的相关性

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The γG-158 (C→T) polymorphism plays important function in the disease severity of sickle cell anemia.The XmnI restriction site at -158 position of the γG-gene is associated with increased expression of the γG-globin gene and higher production of HbF. This study aims to determine the frequency of the different genotypes of the γG Xmn I polymorphism in sickle cell anemia and sickle cell trait patients in Chhattisgarh and its association with high HbFlevel. 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 (P0.0001) 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 foundbetween presence and absence of XmnI site with HbF level, in AS and AA individuals.
机译:γG-158(C→T)多态性在镰状细胞性贫血的疾病严重程度中起重要作用.γG​​基因-158位置的XmnI限制性酶切位点与γG-球蛋白基因的表达增加和高产量相关。血红蛋白。本研究旨在确定Chhattisgarh的镰状细胞性贫血和镰状细胞性状患者的γGXmn I多态性的不同基因型频率及其与高HbF水平的关系。 Xmn1多态性位点通过PCR-RFLP程序确定。 XmnI多态性在100名镰状细胞患者(SS),50名镰状细胞性状(AS)和50名对照个体(AA)中进行了研究。 SS和AS患者中XmnI(+ / +)位点的存在与HbF合成增加(P <0.0001)有关。我们还发现SS患者中一个XmnI(+/-)位点与XmnI-/-位点的存在并没有显示HbF水平的差异。在AS和AA中,存在和不存在XmnI位点与HbF水平之间存在多态性关联个人。

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