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以往一直认为细胞遗传学上检出Ph染色体是诊断慢性粒细胞白血病(CML)和确定治疗后有无微小残留或早期复发的唯一可靠手段。但近来的研究发现22号染色体上bcr基因的重排即为Ph染色体在分子学上的改变。应用bcr探针进行印迹杂交(Southern blotting)而无需核型分析也可明确地揭示Ph阳性克隆的存在,甚至当其少到只占2～5%的细胞时。作者对28例拟作或已作骨髓移植的Ph(十)CML患者(其中25例为标准易位,3例系变异或复杂易位)同时进行细胞遗传学
It has been previously thought that detection of Ph chromosomes by cytogenetics is the only reliable means for diagnosing chronic myelogenous leukemia (CML) and determining whether there is minimal residual or early recurrence after treatment. However, recent studies have found that the rearrangement of the bcr gene on chromosome 22 is the molecular alteration of the Ph chromosome. The use of bcr probes for Southern blotting without the need for karyotyping can also unambiguously reveal the presence of Ph positive clones, even when they are as small as 2-5% cells. The authors performed cytogenetics on 28 patients with Ph (10) CML who were planned or had undergone bone marrow transplantation (25 of them were standard translocations and 3 were variants or complex translocations).