不同胎儿血红蛋白水平的地中海贫血患者中的两个β-珠蛋白基因簇连锁多态性位点。
Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin.
作者信息
Bandyopadhyay Sanmay, Mondal Bama Charan, Sarkar Pabak, Chandra Sarmila, Das M K, Dasgupta Uma B
机构信息
Department of Biophysics, Molecular Biology and Genetics, University of Calcutta, 92 APC Road, Kolkata 700009, India.
出版信息
Eur J Haematol. 2005 Jul;75(1):47-53. doi: 10.1111/j.1600-0609.2005.00416.x.
OBJECTIVE
To correlate different polymorphisms of the beta-globin cluster with fetal hemoglobin (HbF) level in beta-thalassemia and E-beta thalassemia patients.
METHODS
Fifteen thalassemia patients, seven with high HbF and not requiring transfusion, eight with lower HbF and requiring transfusion were studied for beta-globin mutation, concurrent inheritance of alpha-thalassemia, RFLP haplotype, a C-->T polymorphism at -158 of Ggamma and configuration of an (AT)(x)T(y) motif at -540 of beta-globin gene.
RESULTS
Senegal 5'beta-haplotype and the polymorphism at -158 of G(gamma) was (P = 0.063) was linked to the high-HbF phenotype but the (AT)(9)T(5) configuration of the (AT)(x)T(y) motif was not (P = 0.6). Study of 30 chromosomes revealed 7 different configurations of the (AT)(x)T(y) motif. Association of these motifs with specific beta-globin mutations of this region has also been determined.
CONCLUSION
The senegal haplotype and the polymorphism at -158 of G(gamma) was linked to the high-HbF phenotype.
目的
在β地中海贫血和E-β地中海贫血患者中，将β珠蛋白基因簇的不同多态性与胎儿血红蛋白（HbF）水平相关联。
方法
研究了15例地中海贫血患者，其中7例HbF水平高且无需输血，8例HbF水平低且需要输血，检测其β珠蛋白基因突变、α地中海贫血的并发遗传、RFLP单倍型、Gγ基因-158处的C→T多态性以及β珠蛋白基因-540处(AT)(x)T(y)基序的结构。
结果
塞内加尔5'β单倍型和G(γ)基因-158处的多态性（P = 0.063）与高HbF表型相关，但(AT)(x)T(y)基序的(AT)(9)T(5)结构则不然（P = 0.6）。对30条染色体的研究揭示了(AT)(x)T(y)基序的7种不同结构。还确定了这些结构与该区域特定β珠蛋白基因突变的关联。
结论
塞内加尔单倍型和G(γ)基因-158处的多态性与高HbF表型相关。
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