Mills K I, MacKenzie E D, Birnie G D
Beatson Institute for Cancer Research, Glasgow, Scotland.
Blood. 1988 Oct;72(4):1237-41.
The Philadelphia (Ph1) chromosome, characteristic of chronic myelogenous leukemia (CML), arises from a reciprocal translocation between chromosomes 9 and 22. The site of the breakpoint on chromosome 22 is within a small region called the breakpoint cluster region (bcr). We have mapped the breakpoint within the bcr in peripheral blood leukocyte DNA from 22 Ph1-positive CML patients. No correlation between the site of the breakpoint and the clinical phase of the disease was found. However, a striking correlation between the site of the breakpoint and the length of time between presentation and onset of acute phase was observed: on average, patients with a 5' break-point had a fourfold longer chronic phase (median, 203 weeks) than those with a 3' breakpoint (median, 52 weeks).
费城（Ph1）染色体是慢性粒细胞白血病（CML）的特征性染色体，它由9号和22号染色体之间的相互易位产生。22号染色体上的断点位于一个称为断点簇区域（bcr）的小区域内。我们已经绘制了22例Ph1阳性CML患者外周血白细胞DNA中bcr内的断点图谱。未发现断点位置与疾病临床分期之间存在相关性。然而，观察到断点位置与出现症状至急性期发作之间的时间长度存在显著相关性：平均而言，5' 断点的患者慢性期（中位数为203周）比3' 断点的患者（中位数为52周）长四倍。
