González F A, Villegas A, Ferro M T, San Román C, Sáez I, López M, del Potro E, Alvarez A, Martínez R, Díaz Madiavilla J
Servicio de Hematología, Hospital Universitario San Carlos, Madrid.
Med Clin (Barc). 1993 Oct 30;101(14):521-4.
The rearrangement of the bcr/abl gene constitutes the molecular substrate of the Philadelphia chromosome (Ph'). The aim of this study was to analyze the usefulness of bcr/abl rearrangement in the diagnosis and evolution of chronic myeloid leukemia (CML).
The rearrangement of the bcr/abl gene was studied in 81 cases of which 34 corresponded to patients with CML (29 Ph' positive chromosome, 2 Ph' negative chromosome and 3 without karyotype), 2 patients with Ph' positive acute lymphoblastic leukemia, 15 patients with chronic myeloproliferative syndromes different from CML and 30 controls. Of the patients with CML, 6 were reevaluated when a blastic crisis was developed, 2 after receiving interferon treatment and 1 following allogeneic bone marrow transplantation. The technique used was that of Southern blotting using the restriction enzymes Bgl II and BamHI and the transprobe.
Rearrangement of the bcr/abl gene was observed in all the patients with CML except in one with Ph' negative chromosome. In the remaining cases bcr/abl rearrangement was not observed.
The Southern blotting technique for the study of the bcr/abl gene rearrangement is a sensitive and specific method in the diagnosis of chronic myeloid leukemia constituting a valid alternative to chromosomic study when this cannot be carried out or is not conclusive. It may also be used for the control of treatment in chronic myeloid leukemia.
bcr/abl基因重排构成了费城染色体(Ph')的分子基础。本研究的目的是分析bcr/abl重排在慢性髓性白血病(CML)诊断和病情演变中的作用。
对81例患者进行了bcr/abl基因重排研究,其中34例为CML患者(29例费城染色体阳性,2例费城染色体阴性,3例无核型),2例费城染色体阳性急性淋巴细胞白血病患者,15例不同于CML的慢性骨髓增殖性综合征患者,以及30例对照。CML患者中,6例在发生急变期时重新评估,2例在接受干扰素治疗后评估,1例在接受异基因骨髓移植后评估。采用的技术是使用限制性内切酶Bgl II和BamHI以及转探针的Southern印迹法。
除1例费城染色体阴性患者外,所有CML患者均观察到bcr/abl基因重排。其余病例未观察到bcr/abl重排。
用于研究bcr/abl基因重排的Southern印迹技术在慢性髓性白血病诊断中是一种敏感且特异的方法,当无法进行染色体研究或染色体研究结果不明确时,它是染色体研究的有效替代方法。它也可用于慢性髓性白血病的治疗监测。