Benn P, Grossman A, Soper L, Halka K, Eisenberg A, Gascon P
Lifecodes Corporation, Valhalla, New York 10595.
Leukemia. 1988 Nov;2(11):760-2.
Detection of rearrangement of the breakpoint cluster region (bcr) of chromosome 22 by Southern blot analysis can be used for the routine diagnosis of CML. Restriction fragment length polymorphisms (RFLPs) in the bcr can potentially be confused with translocation since both alter the size of DNA fragments obtained. By digesting DNA with the restriction enzyme BamHl and analyzing with probes commonly used for identifying rearrangement of the bcr, we have observed a RFLP within the bcr. For one CML patient studied in detail, the presence of the polymorphism was confirmed by comparing the results of analyses of granulocytes and a T cell-enriched population. The same polymorphism was detected in three additional CML patients and a patient with thrombocytosis. For the diagnosis of CML, verification of rearrangement with multiple probes and/or restriction enzyme combinations is necessary to rule out false positives, as well as to reduce the chance of false negatives due to co-migration of DNA fragments.
通过Southern印迹分析检测22号染色体断点簇区域（bcr）的重排可用于慢性粒细胞白血病（CML）的常规诊断。bcr中的限制性片段长度多态性（RFLP）可能会与易位混淆，因为两者都会改变所获得的DNA片段大小。通过用限制性内切酶BamH1消化DNA并用常用于鉴定bcr重排的探针进行分析，我们在bcr内观察到了一个RFLP。对于一名进行了详细研究的CML患者，通过比较粒细胞和富含T细胞群体的分析结果证实了多态性的存在。在另外三名CML患者和一名血小板增多症患者中也检测到了相同的多态性。对于CML的诊断，有必要用多种探针和/或限制性内切酶组合来验证重排，以排除假阳性，同时减少由于DNA片段共迁移导致假阴性的可能性。
