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费城染色体阳性（Ph+）急性淋巴细胞白血病中22号染色体断点的异质性。

Heterogeneity of chromosome 22 breakpoint in Philadelphia-positive (Ph+) acute lymphocytic leukemia.

作者信息

Erikson J, Griffin C A, ar-Rushdi A, Valtieri M, Hoxie J, Finan J, Emanuel B S, Rovera G, Nowell P C, Croce C M

出版信息

Proc Natl Acad Sci U S A. 1986 Mar;83(6):1807-11. doi: 10.1073/pnas.83.6.1807.

DOI:10.1073/pnas.83.6.1807
PMID:3513189
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC323173/
Abstract

In chronic myelogenous leukemias (CML) with the t(9;22)(q34;q11) chromosome translocation the breakpoints on chromosome 22 occur within a 5.8-kilobase segment of DNA referred to as "breakpoint cluster region" (bcr). The same cytogenetically indistinguishable translocation occurs in approximately 10% of patients with acute lymphocytic leukemias (ALL). In this study we have investigated the chromosome breakpoints in several cases of ALL carrying the t(9;22) translocation. In three of five cases of ALL we found that the bcr region was not involved in the chromosome rearrangement and that the 22q11 chromosome breakpoints were proximal (5') to the bcr region at band 22q11. In addition, we observed normal size bcr and c-abl transcripts in an ALL cell line carrying the t(9;22) translocation. We conclude, therefore, that if c-abl is inappropriately expressed in ALL cells without bcr rearrangements, the genetic mechanism of activation must be different from that reported for CML.

摘要

在伴有t(9;22)(q34;q11)染色体易位的慢性粒细胞白血病（CML）中，22号染色体上的断点出现在一段5.8千碱基的DNA片段内，该片段被称为“断点簇区域”（bcr）。在大约10%的急性淋巴细胞白血病（ALL）患者中也会出现同样在细胞遗传学上无法区分的易位。在本研究中，我们调查了几例携带t(9;22)易位的ALL患者的染色体断点。在5例ALL患者中的3例，我们发现bcr区域未参与染色体重排，并且22q11染色体断点位于22q11带bcr区域的近端（5'端）。此外，我们在一株携带t(9;22)易位的ALL细胞系中观察到了正常大小的bcr和c-abl转录本。因此，我们得出结论，如果c-abl在没有bcr重排的ALL细胞中异常表达，其激活的遗传机制必定与CML中报道过的不同。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0170/323173/17f020cfc362/pnas00310-0277-b.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0170/323173/17f020cfc362/pnas00310-0277-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0170/323173/4dea7f17559f/pnas00310-0274-a.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0170/323173/624ad53b18e4/pnas00310-0275-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0170/323173/9bd54271a2e1/pnas00310-0276-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0170/323173/b8f7a9c71e9b/pnas00310-0276-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0170/323173/ad4c01b6a06e/pnas00310-0276-c.jpg
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