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2
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The role of DNA fragmentation in apoptosis.DNA片段化在细胞凋亡中的作用。
Trends Cell Biol. 1995 Jan;5(1):21-6. doi: 10.1016/s0962-8924(00)88932-1.
2
DNA cleavage within the MLL breakpoint cluster region is a specific event which occurs as part of higher-order chromatin fragmentation during the initial stages of apoptosis.MLL断点簇区域内的DNA切割是一个特定事件，它作为凋亡初始阶段高阶染色质片段化的一部分而发生。
Mol Cell Biol. 1997 Jul;17(7):4070-9. doi: 10.1128/MCB.17.7.4070.
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Molecular analysis of infant acute leukemia.
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MLL cleavage occurs in approximately 5% of de novo acute myeloid leukemia, including in patients analyzed before treatment induction.
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Molecular biology of acute myeloid leukemia.急性髓系白血病的分子生物学
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Clinical significance of cytogenetics in acute myeloid leukemia.细胞遗传学在急性髓系白血病中的临床意义
Semin Oncol. 1997 Feb;24(1):17-31.
7
Frequency and clinical significance of the MLL gene rearrangements in infant acute leukemia.婴儿急性白血病中MLL基因重排的频率及临床意义
Leukemia. 1996 Aug;10(8):1303-7.
8
Site-specific DNA cleavage within the MLL breakpoint cluster region induced by topoisomerase II inhibitors.拓扑异构酶II抑制剂诱导的MLL断点簇区域内的位点特异性DNA切割。
Blood. 1996 Apr 1;87(7):2649-58.
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Uniform criteria for childhood acute lymphoblastic leukemia risk classification.
J Clin Oncol. 1996 Feb;14(2):680-1. doi: 10.1200/JCO.1996.14.2.680.
10
Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.11q23断点在初发急性白血病和治疗相关急性髓系白血病的MLL断点簇区域内的分布：与支架附着区域和拓扑异构酶II共有结合位点的相关性
Blood. 1996 Mar 1;87(5):1912-22.

11号染色体q23区域MLL基因的假性重排：白血病患者基因型分析的警示

Pseudo-rearrangement of the MLL gene at chromosome 11q23: a cautionary note on genotype analysis of leukaemia patients.

作者信息

Stanulla M, Schünemann H J, Thandla S, Brecher M L, Aplan P D

机构信息

Department of Molecular Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.

出版信息

Mol Pathol. 1998 Apr;51(2):85-9. doi: 10.1136/mp.51.2.85.

DOI:10.1136/mp.51.2.85
PMID:9713591
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC395615/
Abstract

AIMS

The MLL gene on chromosome 11q23 is frequently disrupted by chromosomal translocations in association with haematological malignancies. Recently, a specific site within the 8.3 kb MLL break-point cluster region that is cleaved during the early stages of apoptosis has been identified. Because MLL gene rearrangements are used to identify patients with high risk leukaemia, it was the aim of this study to determine whether this DNA cleavage event could be triggered in diagnostic bone marrow samples solely through ex vivo incubation at room temperature.

METHODS

Pretreatment bone marrow samples were collected from six paediatric leukaemia patients. Genomic DNA for Southern blot analysis of MLL gene rearrangements was isolated immediately after samples were obtained and compared to genomic DNA isolated after incubation of specimens for 24-60 hours at room temperature, simulating delays in processing that might occur when samples are delivered to reference laboratories. In addition, cryopreserved samples from 70 paediatric leukaemia patients were screened for evidence of site specific MLL cleavage.

RESULTS

After ex vivo incubation of bone marrow samples, site specific MLL cleavage resulting in a pseudo-rearrangement of the MLL gene was detected in two of six patients. In addition, a third patient with a similar MLL pseudo-rearrangement in cryopreserved cells was identified.

CONCLUSIONS

Pseudo-rearrangement of the MLL gene at chromosome 11q23 was caused by ex vivo incubation of bone marrow samples. This novel phenomenon, which could lead to misclassification of leukaemia patients, might also be of importance for genotype analysis by Southern blotting at other loci.

摘要

目的

11q23染色体上的MLL基因常因染色体易位而与血液系统恶性肿瘤相关。最近，已确定在凋亡早期被切割的8.3 kb MLL断点簇区域内的一个特定位点。由于MLL基因重排用于识别高危白血病患者，本研究的目的是确定这种DNA切割事件是否仅通过在室温下体外孵育就能在诊断性骨髓样本中引发。

方法

从6名儿童白血病患者中采集预处理的骨髓样本。在获得样本后立即分离用于MLL基因重排Southern印迹分析的基因组DNA，并与在室温下将标本孵育24 - 60小时后分离的基因组DNA进行比较，模拟样本送至参考实验室时可能出现的处理延迟。此外，对70名儿童白血病患者的冷冻保存样本进行筛选，以寻找位点特异性MLL切割的证据。

结果

骨髓样本体外孵育后，在6名患者中的2名检测到导致MLL基因假重排的位点特异性MLL切割。此外，在冷冻保存细胞中鉴定出第3名具有类似MLL假重排的患者。

结论

11q23染色体上MLL基因的假重排是由骨髓样本的体外孵育引起的。这种新现象可能导致白血病患者的错误分类，对其他位点Southern印迹法的基因型分析也可能具有重要意义。