Reeve A E, Morris C M, Fitzgerald P H
Department of Biochemistry, University of Otago, Dunedin, New Zealand.
Blood. 1988 Jul;72(1):24-8.
A 45-year-old male patient with Ph-negative chronic myeloid leukemia (CML) had rearranged bcr-3' and bcr-5' gene regions in Southern blot studies when leukemia was diagnosed. During development of terminal blast crisis, successive blood samples showed a progressive decrease in the amount of germline bcr DNA and its complete loss by full blast crisis. There were also increased amounts of rearranged bcr DNA consistent with acquired homozygosity. A similar result was obtained with an IgV lambda probe and indicated homozygosity of a significant part of chromosome 22. The bcr-abl gene complex behaves as a somatic dominant in CML, and we suggest that its acquired homozygosity is a mechanism of bcr-abl amplification similar to duplication of the Ph chromosome commonly found in the blast crisis of CML.
一名45岁的Ph阴性慢性髓性白血病（CML）男性患者在白血病诊断时，Southern印迹研究显示其bcr - 3'和bcr - 5'基因区域发生了重排。在终末期原始细胞危象发展过程中，连续的血样显示种系bcr DNA的量逐渐减少，到完全原始细胞危象时完全消失。重排的bcr DNA量也增加，提示获得性纯合性。用IgVλ探针也得到了类似结果，表明22号染色体的很大一部分存在纯合性。bcr - abl基因复合体在CML中表现为体细胞显性，我们认为其获得性纯合性是bcr - abl扩增的一种机制，类似于CML原始细胞危象中常见的Ph染色体复制。
