HBS1L-MYB单核苷酸多态性胎儿血红蛋白遗传性血红蛋白疾病地中海贫血症和镰刀型贫血症是世界各地各种族人群中的两种最常见的单基因疾病.这两种疾病在临床表现上差异很大,其中患者体内胎儿血红蛋白(HbF)的水平是影响疾病临床表现的主要因素之一.大量研究发现,Hb F水平受BCL11A,Xmn1-HBG2和HBS1L-MYB基因区域的单核苷酸多...
HBS1L-MYB异源多态性(HMIP)与HbF水平或HU反应之间的关联已在具有不同种族背景的患者中证明。本研究中,我们首先确定了HMIP-2中的DNA多态性(rs9399137,rs4895440和rs4895441)与中国β-地中海贫血患者对沙利度胺的反应之间的关联...
HBS 1LMYB基因BCL11A基因和HBG基因与胎儿血红蛋白相关性的研究,HBS 1LMYB基因BCL11A基因和HBG基因与胎儿血红蛋白相关性的研究,HBS
Of these, rs9376092 (HBS1L- MYB) was particularly prominent (Breslow–Day P ¼ 4.5 Â 10 À 7; Table 2B). To investigate the possibility that germline variation at CALR might contribute to the acquisition of somatic CALR mutations, a 206-kb region that flanks the CALR locus by 100 ...
We have investigated the influence of three known major loci on the HbF trait (HBG2, rs748214; BCL11A, rs4671393; and HBS1L-MYB, rs28384513, rs489544 and rs9399137) and HbF levels in SCA patients from the State of Pará, Northern Brazil. Our results showed that high levels of HbF ...
DNA polymorphisms at BCL11A HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil. Blood Cells Mol Dis. 2014; 53; 176-179.G. L. Cardoso, I. G. Diniz, A. N. L. Martins da Silva et al., "...
HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. J. Clin. Invest. 2014; 124:1699-1710. [PubMed: 24614105]Stadhouders R, Aktuna S, Thongjuea S, Aghajanirefah A, Pourfarzad F, van Ijcken W, Lenhard B, Rooks H, Best S, Menzel S, et al. HBS1L...
The work reported here aimed to detect the most common SNPs of BCL11A and HBS1L-MYB related to HbF in SCA patients and to estimate the frequency of occurrence of these genotypes. A total of 132 SCA patients whose condition was stable were recruited from Jeddah city, Saudi Arabia. SNPs at...
HBS1L-MYB基因目的:研究HBS1L-MYB基因rs35959442,rs4895441和rs9399137位点多态性与胎儿血红蛋白( HbF)的相关性.方法通过聚合酶链反应-限制性片段长度多态性,DNA测序技术检测广西籍64例重型β地中海贫血患者(病例组)及64例健康对照组HBS1L-MYB基因rs35959442,rs4895441和rs9399137位点多态性,并分析它们与HbF水平的...
HBS1L-MYB rs4895441 showed no influential effect on Hb subtypes level. However, rs9399137 and rs11759553 showed significant different in HbF level. HbF level was elevated when Filipino β°-deletion carriers co-inherited with HBS1L-MYB rs9399137 or rs11759553 (Fig.2). In conclusion, HBS1L-...