کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2827494 1162448 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شناسی مولکولی
پیش نمایش صفحه اول مقاله
BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies
چکیده انگلیسی

Increased HbF levels or F-cell (HbF containing erythrocyte) numbers can ameliorate the disease severity of β-thalassemia major and sickle cell anemia. Recent genome-wide association studies reported that single nucleotide polymorphisms (SNPs) in BCL11A gene on chromosome 2p16.1 were correlated with F-cells among healthy northern Europeans, and HbF among Sardinians with β-thalassemias. In this study, we showed that SNPs in BCL11A were associated with F-cell numbers in Chinese with β-thalassemia trait, and with HbF levels in Thais with either β-thalassemia or HbE trait and in African Americans with sickle cell anemia. Taken together, the data suggest that the functional motifs responsible for modulating F-cells and HbF levels reside within a 3 kb region in the second intron of BCL11A.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Blood Cells, Molecules, and Diseases - Volume 41, Issue 3, November–December 2008, Pages 255–258
نویسندگان
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