期刊文献+
共找到1篇文章
< 1 >
每页显示 20 50 100
Genetic Polymorphisms of HBS1L-MYB (rs4895441 and rs9376090) in Egyptian Patients with Hemoglobinopathy
1
作者 thoria a. omar Emad F. abd-Elhalim +4 位作者 Rawhia H. Eledel Mohamed a. Soliman Fatma S. Ebeid Ola H. Elshafey Dalia H. abou-Elela 《Open Journal of Blood Diseases》 2020年第4期89-100,共12页
<b><span style="font-family:Verdana;">Objective:</span></b><span style="font-family:;" "=""><span style="font-family:Verdana;"> Study th... <b><span style="font-family:Verdana;">Objective:</span></b><span style="font-family:;" "=""><span style="font-family:Verdana;"> Study the HBS1L-MYB (rs4895441 and rs9376090) genetic polymorphisms in Egyptian patients with </span><i><span style="font-family:Verdana;">β</span></i><span style="font-family:Verdana;">-thalassemia major and sickle cell disease and its relation to Hb F and severity of the disease. </span><b><span style="font-family:Verdana;">Background:</span></b><span style="font-family:Verdana;"> Hb F is a predominant modulator for the severity of </span><i><span style="font-family:Verdana;">β</span></i><span style="font-family:Verdana;">-thalassemia major & sickle cell disease. Genetic polymorphism in the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q is associated with high fetal hemoglobin levels. </span><b><span style="font-family:Verdana;">Subjects and Methods:</span></b><span style="font-family:Verdana;"> 150 subjects were included in this study. For all studied groups: Complete blood picture and serum ferritin were evaluated. For patients, hemoglobin variants were separated by High-performance liquid chromatography. Genotyping of HBS1L-MYB (rs4895441 & rs9376090) was evaluated by real-time polymerase chain reaction technique using TaqMan probe. </span><b><span style="font-family:Verdana;">Results:</span></b><span style="font-family:Verdana;"> AG, CT genotypes, and G, C alleles of HBS1L-MYB (rs4895441 & rs9376090) were significantly high in sickle cell patients [OR (3.400);95% C.I (1.482 - 7.799)], (p = 0.003) & [OR (4.522);95%</span></span><span style="font-family:;" "=""> </span><span style="font-family:;" "=""><span style="font-family:Verdana;">C.I (1.854 - 11.029)], (p = 0.001) respectively. Also, a significant association was detected between polymorphisms and disease severity. However, in </span><i><span style="font-family:Verdana;">β</span></i><span style="font-family:Verdana;">-thalassemia major, no significant association was detected. </span><b><span style="font-family:Verdana;">Conclusion: </span></b><span style="font-family:Verdana;">In sickle cell disease patients,</span><b> </b><span style="font-family:Verdana;">Genetic</span><b> </b><span style="font-family:Verdana;">polymorphisms in HBS1L-MYB (rs9376090 & rs4895441) affect the level of Hb F which could improve the prognosis of these patients.</span></span> 展开更多
关键词 HEMOGLOBINOPATHY BETA-THALASSEMIA Sickle Cell Disease HBS1L-MYB Polymorphism Polymerase Chain Reaction
下载PDF
上一页 1 下一页 到第
使用帮助 返回顶部