Acquired alpha-thalassemia in preleukemia is due to decreased expression of all four alpha-globin genes.
Acquired alpha-thalassemia in preleukemia is due to decreased expression of all four alpha-globin genes.
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白血病前期的获得性α-地中海贫血是由于所有四种α-珠蛋白基因表达下降所致。
DOI：
10.1073/pnas.80.19.6051
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发表时间：
1983
影响因子：
11.1
通讯作者：
Deisseroth,AB
中科院分区：
文献类型：
--
作者：
Anagnou,NP;Ley,TJ;Chesbro,B;Wright,G;Kitchens,C;Liebhaber,S;Nienhuis,AW;Deisseroth,AB
一位75岁的北欧裔高加索男性在白血病前期的演变过程中获得的体细胞突变导致α-珠蛋白mRNA显著降低。存在于骨髓细胞中的少量α-珠蛋白mRNA被正常加工，具有正常的（α 1/α 2）-珠蛋白mRNA比率，并且被正常翻译。没有检测到zeta-珠蛋白mRNA被发现。α-和zeta-珠蛋白基因都是低甲基化和限制性内切酶图谱的α-和zeta-珠蛋白基因在患者的骨髓和成纤维细胞DNA是可比的。数据与导致所有四种α-珠蛋白基因表达降低的突变的获得最一致。
A somatic mutation(s), acquired during the evolution of preleukemia in a 75-year-old Caucasian male of North European origin, resulted in a marked decrease in alpha-globin mRNA. The small amount of alpha-globin mRNA present in bone marrow cells was normally processed, had a normal (alpha 1/alpha 2)-globin mRNA ratio, and was translated normally. No detectable zeta-globin mRNA was found. The alpha- and zeta-globin genes were both hypomethylated and restriction endonuclease maps of the alpha- and zeta-globin genes were comparable in the patient's marrow and fibroblast DNA. The data are most consistent with the acquisition of a mutation(s) that resulted in decreased expression of all four alpha-globin genes.