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通过信使核糖核酸分析确定α地中海贫血表型

Determination of alpha thalassaemia phenotypes by messenger RNA analysis.

作者信息

Hunt D M, Higgs D R, Clegg J B, Weatherball D J, Marsh G W

出版信息

Br J Haematol. 1980 May;45(1):53-64. doi: 10.1111/j.1365-2141.1980.tb03810.x.

DOI:10.1111/j.1365-2141.1980.tb03810.x
PMID:7378329
Abstract

The possibility of using alpha/beta globin messenger RNA (mRNA) ratios to distinguish between the carrier states for different forms of alpha thalassaemia has been explored. Alpha/beta globin mRNA ratios were determined in the red cells of a series of normal individuals and in members of four Cypriot families, one Thai and one Chinese family in which at least one person has haemoglobin H disease. It was found that there was a clear distinction in the ratios between normals, alpha thalassaemia 1 carriers, alpha thalassaemia 2 carriers, and those with haemoglobin H disease. This method should be a valuable addition to haematological analysis, haemoglobin synthesis and restriction mapping of DNA for the further elucidation of the genetics of alpha thalassaemia.

摘要

研究了利用α/β珠蛋白信使核糖核酸(mRNA)比率来区分不同形式α地中海贫血携带者状态的可能性。测定了一系列正常个体以及四个塞浦路斯家庭、一个泰国家庭和一个中国家庭成员红细胞中的α/β珠蛋白mRNA比率,这些家庭中至少有一人患有血红蛋白H病。结果发现,正常个体、α地中海贫血1携带者、α地中海贫血2携带者以及血红蛋白H病患者之间的比率存在明显差异。该方法对于血液学分析、血红蛋白合成及DNA限制性图谱分析而言应是一项有价值的补充,有助于进一步阐明α地中海贫血的遗传学机制。

相似文献

1
Determination of alpha thalassaemia phenotypes by messenger RNA analysis.通过信使核糖核酸分析确定α地中海贫血表型
Br J Haematol. 1980 May;45(1):53-64. doi: 10.1111/j.1365-2141.1980.tb03810.x.
2
Negro alpha-thalassaemia is caused by deletion of a single alpha-globin gene.
Lancet. 1979 Aug 11;2(8137):272-6. doi: 10.1016/s0140-6736(79)90290-3.
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[Combined alpha and beta thalassemia in a Chinese family in The Netherlands].[荷兰一个华裔家庭中的α和β地中海贫血合并症]
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Molecular characteristics of a non-deletion alpha-thalassaemia of the Po River Delta.波河三角洲非缺失型α地中海贫血的分子特征
Eur J Biochem. 1981 May;116(1):127-30. doi: 10.1111/j.1432-1033.1981.tb05309.x.
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The interaction of alpha thalassaemia with heterozygous beta thalassaemia.α地中海贫血与杂合子β地中海贫血的相互作用。
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Alpha globin gene analysis in a Sardinian family with interacting alpha and beta thalassaemia genes.一个患有相互作用的α和β地中海贫血基因的撒丁岛家族中的α珠蛋白基因分析。
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The genetic basis of Hb Q-H disease.血红蛋白Q-H病的遗传基础。
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Interaction of alpha and beta thalassaemia genes in two Sardinian families.两个撒丁岛家庭中α和β地中海贫血基因的相互作用。
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Haemoglobin Constant Spring has an unstable alpha chain messenger RNA.血红蛋白恒河猴具有不稳定的α链信使核糖核酸。
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引用本文的文献

1
Alpha-thalassaemia.阿尔法-地中海贫血症。
Orphanet J Rare Dis. 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13.
2
Instability of beta E-messenger RNA during erythroid cell maturation in hemoglobin E homozygotes.血红蛋白E纯合子中βE信使核糖核酸在红系细胞成熟过程中的不稳定性
J Clin Invest. 1982 Apr;69(4):1050-3. doi: 10.1172/jci110510.
3
Three mouse models of human thalassemia.三种人类地中海贫血的小鼠模型。
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5056-60. doi: 10.1073/pnas.78.8.5056.
4
Different quantitative expression of the hemoglobin alpha-chain genes in sheep.
Biochem Genet. 1983 Dec;21(11-12):1089-99. doi: 10.1007/BF00488461.
5
Thalassemic hemoglobinopathies.地中海贫血血红蛋白病
Am J Pathol. 1983 Dec;113(3):396-409.
6
Genetic and molecular diversity in nondeletion Hb H disease.非缺失型血红蛋白H病的遗传和分子多样性。
Proc Natl Acad Sci U S A. 1981 Sep;78(9):5833-7. doi: 10.1073/pnas.78.9.5833.
7
Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution.人类α珠蛋白基因重复序列间的独立重组事件;对其协同进化的影响。
Nucleic Acids Res. 1984 Sep 25;12(18):6965-77. doi: 10.1093/nar/12.18.6965.
8
Compensatory increase in alpha 1-globin gene expression in individuals heterozygous for the alpha-thalassemia-2 deletion.α地中海贫血2型缺失杂合子个体中α1-珠蛋白基因表达的代偿性增加。
J Clin Invest. 1985 Sep;76(3):1057-64. doi: 10.1172/JCI112058.
9
Translational profiles of alpha 1-, alpha 2-, and beta-globin messenger ribonucleic acids in human reticulocytes.人网织红细胞中α1-、α2-和β-珠蛋白信使核糖核酸的翻译谱
J Clin Invest. 1986 Oct;78(4):1125-9. doi: 10.1172/JCI112670.
10
Globin gene expression in erythroid human fetal liver cells.人胎儿肝脏红系细胞中的珠蛋白基因表达。
J Clin Invest. 1989 Mar;83(3):1032-8. doi: 10.1172/JCI113944.