Groffen J, Stephenson J R, Heisterkamp N, de Klein A, Bartram C R, Grosveld G
Cell. 1984 Jan;36(1):93-9. doi: 10.1016/0092-8674(84)90077-1.
We have identified and molecularly cloned 46 kb of human DNA from chromosome 22 using a probe specific for the Philadelphia (Ph') translocation breakpoint domain of one chronic myelocytic leukemia (CML) patient. The DNAs of 19 CML patients were examined for rearrangements on chromosome 22 with probes isolated from this cloned region. In 17 patients, chromosomal breakpoints were found within a limited region of up to 5.8 kb, for which we propose the term "breakpoint cluster region" (bcr). The two patients having no rearrangements within bcr lacked the Ph' chromosome. The highly specific presence of a chromosomal breakpoint within bcr in Ph'-positive CML patients strongly suggests the involvement of bcr in this type of leukemia.
我们使用针对一名慢性粒细胞白血病（CML）患者费城（Ph'）易位断点区域的特异性探针，从22号染色体上鉴定并分子克隆了46 kb的人类DNA。使用从该克隆区域分离的探针，检测了19名CML患者的DNA在22号染色体上的重排情况。在17名患者中，染色体断点位于一个最大为5.8 kb的有限区域内，我们将此区域称为“断点簇区域”（bcr）。在bcr内没有重排的两名患者缺乏Ph'染色体。Ph'阳性CML患者的bcr内染色体断点高度特异性地存在，强烈提示bcr参与了此类白血病的发生。
