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北印度地中海贫血患者β-珠蛋白基因(AT)×(T)y基序多态性模式与临床表型变异的关联。

Association of polymorphic pattern of the (AT) × (T)y motif of β-globin gene in North Indian thalassemia patients with variable clinical expression.

作者信息

Arya Vandana, Agarwal Sarita, Pradhan Mandakini

机构信息

Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh India.

出版信息

Indian J Hematol Blood Transfus. 2010 Mar;26(1):21-3. doi: 10.1007/s12288-010-0008-4. Epub 2010 Aug 4.

DOI:10.1007/s12288-010-0008-4
PMID:23100997
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3452947/
Abstract

Among the polymorphic genetic markers of the β-globin gene cluster, the (AT) × (T)y motif and a common C→T variation at -158 of the Gγ globin gene were investigate din 20 β-thalassemia IVSI-5 (G→C) homozygous patients with variable clinical manifestation and 10 normal subjects from north India to deduce any association with the co-inherited genetic polymorphism. We found (AT)(7)(T)(7) repeat motif in all the 20 chromosomes of normal subjects and two different sequence configuration(AT)(8)(T)(5), (AT)(9)(T)(5) in the patient group whereas the presence of -158(C→T) Gγ was quite polymorphic. We conclude that polymorphism -158(C→T) Gγ and (AT) × (T)y sequence variation other than (AT)(7)(T)(7) could influence the phenotype by increasing Hb F expression.

摘要

在β-珠蛋白基因簇的多态性遗传标记中，对20名临床表现各异的β地中海贫血IVSI-5（G→C）纯合患者以及10名来自印度北部的正常受试者，研究了（AT）×（T）y基序和Gγ珠蛋白基因-158位点常见的C→T变异，以推断其与共同遗传的基因多态性之间的任何关联。我们在所有20条正常受试者染色体中发现了（AT）（7）（T）（7）重复基序，而在患者组中发现了两种不同的序列构型（AT）（8）（T）（5）、（AT）（9）（T）（5），而-158（C→T）Gγ的存在具有相当高的多态性。我们得出结论，除了（AT）（7）（T）（7）之外，-158（C→T）Gγ多态性和（AT）×（T）y序列变异可能通过增加Hb F表达来影响表型。

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引用本文的文献

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Effect of Cis Acting Potential Regulators in the β Globin Gene Cluster on the Production of HbF in Thalassemia Patients.β 珠蛋白基因簇中顺式作用调控因子对地中海贫血患者 HbF 生成的影响。
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本文引用的文献

1
Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects.Gγ-158C突变及β-(AT)x(T)y珠蛋白基因多态性对意大利β地中海贫血携带者和野生型受试者HbF水平的影响。
Haematologica. 2006 Sep;91(9):1275-6.
2
Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin.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。
Eur J Haematol. 2005 Jul;75(1):47-53. doi: 10.1111/j.1600-0609.2005.00416.x.
3
Prenatal diagnosis in beta-thalassemia: an Indian experience.β地中海贫血的产前诊断：印度的经验
Fetal Diagn Ther. 2003 Sep-Oct;18(5):328-32. doi: 10.1159/000071975.
4
Role of polymorphic sequences 5' to the G(gamma) gene and 5' to the beta gene on the homozygous beta thalassemic phenotype.G（γ）基因5'端和β基因5'端多态性序列在纯合β地中海贫血表型中的作用。
Hemoglobin. 2003 Aug;27(3):167-75. doi: 10.1081/hem-120023380.
5
Spectrum of beta-thalassemia mutations and their association with allelic sequence polymorphisms at the beta-globin gene cluster in an Eastern Indian population.印度东部人群中β地中海贫血突变谱及其与β珠蛋白基因簇等位基因序列多态性的关联。
Am J Hematol. 2002 Aug;70(4):269-77. doi: 10.1002/ajh.10117.
6
Heterozygous beta-thalassemia with thalassemia intermedia phenotype.具有中间型地中海贫血表型的杂合子β地中海贫血
Am J Hematol. 1998 Jan;57(1):43-7. doi: 10.1002/(sici)1096-8652(199801)57:1<43::aid-ajh7>3.0.co;2-1.
7
Polymorphic pattern of the (AT)X(T)Y motif at -530 5' to the beta-globin gene in over 40 patients homozygous for various beta-thalassemia mutations.40多名各种β地中海贫血突变纯合子患者中，β珠蛋白基因5'端-530处(AT)X(T)Y基序的多态性模式。
Am J Hematol. 1994 Jan;45(1):51-7. doi: 10.1002/ajh.2830450108.
8
A common protein binds to two silencers 5' to the human beta-globin gene.
Nucleic Acids Res. 1989 Nov 11;17(21):8833-52. doi: 10.1093/nar/17.21.8833.