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首页> 外文期刊>Journal of Clinical and Diagnostic Research >Relation Between the Uridine Diphosphate Glucuronosyltransferase 1A1 Polymorphism and the Bilirubin Levels in Sickle Cell Disease
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Relation Between the Uridine Diphosphate Glucuronosyltransferase 1A1 Polymorphism and the Bilirubin Levels in Sickle Cell Disease

机译：镰状细胞病中尿苷二磷酸葡萄糖醛糖基转移酶1A1多态性与胆红素水平的关系

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Background: Genetic variations in the promoter of uridine diphosphate (UDP)?glucuronosyltransferase 1A1 (UGT1A1) may be associated with hyperbilirubinaemia and it appears to be a risk factor for gallstone formation.Aims: Our aim was to detect the correlation between the UGT 1A1 (TA)n repeats and hyperbilirubinaemia and gall stone formation in Indian sickle cell patients.Settings and Design:This was a cross-sectional study; which was carried in an autonomous tertiary care hospital.Materials and Methods: The study subjects were 50 sickle cell anaemia and 70 sickle cell β-thalassaemia patients who were diagnosed by HPLC. The haemogram of the patients was measured by using an automated cell analyzer, while the serum bilrubin measurement was done by using a Beckman- CX-9 auto analyzer. The presence of gall stones was detected by ultra sound examination. Statistical Analysis: ANOVA and the T-test were applied to compare the means of the groups. The allele frequencies were calculated according to the Hardy-Weinberg equilibrium. Results: The allele, 7/7 TA of the UGT1A1 genotype was more frequent in the sickle cell patients and it was associated with hyperbilirubinaemia and gall stone formation.Conclusions: The allele, 7/7 TA of the UGT1A1 polymorphism affects the bilirubin levels and the development of gallbladder stone in the Indian sickle cell patients.
机译：背景：尿苷二磷酸（UDP）？葡萄糖醛酸糖基转移酶1A1（UGT1A1）启动子的遗传变异可能与高胆红素血症有关，它似乎是胆结石形成的危险因素。目的：我们的目的是检测UGT 1A1（ TA）n在印度镰状细胞病患者中反复发作，高胆红素血症和胆结石形成。材料与方法：研究对象为50例镰状细胞性贫血和70例镰状细胞性β地中海贫血，经HPLC确诊。使用自动细胞分析仪测量患者的血红素图，而使用Beckman-CX-9自动分析仪测量血清胆红素。通过超声波检查发现胆结石的存在。统计分析：采用方差分析和T检验比较两组的平均值。根据Hardy-Weinberg平衡计算等位基因频率。结果：UGT1A1基因型的等位基因7/7 TA在镰状细胞患者中更为常见，并与高胆红素血症和胆结石形成有关。结论：UGT1A1基因多态性的等位基因7/7 TA影响胆红素水平和印度镰状细胞病患者胆囊结石的发展。

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