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白血病前期获得性α地中海贫血是由于所有四个α珠蛋白基因的表达降低所致。

Acquired alpha-thalassemia in preleukemia is due to decreased expression of all four alpha-globin genes.

作者信息

Anagnou N P, Ley T J, Chesbro B, Wright G, Kitchens C, Liebhaber S, Nienhuis A W, Deisseroth A B

出版信息

Proc Natl Acad Sci U S A. 1983 Oct;80(19):6051-5. doi: 10.1073/pnas.80.19.6051.

DOI:10.1073/pnas.80.19.6051
PMID:6136971
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC534358/
Abstract

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.

摘要

在一名75岁北欧裔白种男性的白血病前期演变过程中获得的体细胞突变，导致α-珠蛋白mRNA显著减少。骨髓细胞中存在的少量α-珠蛋白mRNA正常加工，具有正常的（α1/α2）-珠蛋白mRNA比率，并且正常翻译。未发现可检测到的ζ-珠蛋白mRNA。α-和ζ-珠蛋白基因均低甲基化，并且α-和ζ-珠蛋白基因的限制性内切酶图谱在患者的骨髓和成纤维细胞DNA中具有可比性。这些数据最符合获得导致所有四个α-珠蛋白基因表达降低的突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/c8e3dffcafc8/pnas00645-0257-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/82fa2d50fa27/pnas00645-0253-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/fb69b8544a4d/pnas00645-0254-a.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/d50ae47df61f/pnas00645-0255-a.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/f239f1d441f2/pnas00645-0256-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/c8e3dffcafc8/pnas00645-0257-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/82fa2d50fa27/pnas00645-0253-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/fb69b8544a4d/pnas00645-0254-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/ea65f3c78cca/pnas00645-0254-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/de9d8eb0da83/pnas00645-0254-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/d50ae47df61f/pnas00645-0255-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/99cbc16f1375/pnas00645-0255-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/8c946a01f426/pnas00645-0256-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/f239f1d441f2/pnas00645-0256-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25f0/534358/c8e3dffcafc8/pnas00645-0257-a.jpg

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Proc Natl Acad Sci U S A. 1987 Apr;84(8):2387-90. doi: 10.1073/pnas.84.8.2387.

本文引用的文献

1
OCCURRENCE OF HAEMOGLOBIN H IN LEUKAEMIA.
Nature. 1963 Sep 28;199:1297-8. doi: 10.1038/1991297a0.
2
An unstable haemoglobin associated with some cases of leukaemia.一种与某些白血病病例相关的不稳定血红蛋白。
Br J Haematol. 1960 Apr;6:171-7. doi: 10.1111/j.1365-2141.1960.tb06230.x.
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Idiopathic myelofibrosis without splenomegaly and with an acquired haemoglobin disorder.无脾肿大且伴有获得性血红蛋白异常的特发性骨髓纤维化
Indian J Cancer. 1980 Sep;17(3):193-5.
4
Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.两种不同的分子组织构成了α地中海贫血-2基因型的单个α珠蛋白基因。
J Clin Invest. 1980 Dec;66(6):1319-25. doi: 10.1172/JCI109984.
5
Myeloproliferative syndrome with sideroblastic anemia and acquired hemoglobin H disease.伴有铁粒幼细胞贫血和获得性血红蛋白H病的骨髓增殖综合征
Cancer. 1980 Jan 1;45(1):78-83. doi: 10.1002/1097-0142(19800101)45:1<78::aid-cncr2820450114>3.0.co;2-n.
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RNA processing errors in patients with beta-thalassemia.β地中海贫血患者的RNA加工错误。
Proc Natl Acad Sci U S A. 1982 Aug;79(15):4775-9. doi: 10.1073/pnas.79.15.4775.
7
Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics.正常人和α地中海贫血患者中源自α1和α2珠蛋白基因座的mRNA转录本的分化
J Clin Invest. 1981 Aug;68(2):439-46. doi: 10.1172/jci110273.
8
The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.人类α-珠蛋白基因的染色体排列：序列同源性与α-珠蛋白基因缺失
Cell. 1980 May;20(1):119-30. doi: 10.1016/0092-8674(80)90240-8.
9
Differences in human alpha-, beta- and delta-globin gene expression in monkey kidney cells.猴肾细胞中人类α、β和δ珠蛋白基因表达的差异。
Cell. 1982 Aug;30(1):173-83. doi: 10.1016/0092-8674(82)90023-x.
10
Highly variable regions of DNA flank the human alpha globin genes.人类α珠蛋白基因两侧是DNA的高度可变区域。
Nucleic Acids Res. 1981 Sep 11;9(17):4213-24. doi: 10.1093/nar/9.17.4213.