Fitzgerald P H, Morris C M
Cytogenetic and Molecular Oncology Unit, Christchurch School of Medicine, New Zealand.
Cancer Genet Cytogenet. 1991 Dec;57(2):143-51. doi: 10.1016/0165-4608(91)90145-k.
Joining of the BCR and ABL genes is an essential feature of the group of human leukemias characterized by the Philadelphia chromosome and there is recent evidence that the human BCR-ABL fusion gene induces leukemia in experimental animals. Joining of these two genes is the result of cytogenetic translocation, usually the t(9;22)(q34;q11), but sometimes of more complex translocations involving one or more chromosomes in addition to chromosomes 9 and 22. The leukemic cells of some patients carry the BCR-ABL fusion gene but have an apparently normal karyotype. Recent studies show that these cells conceal complex chromosome rearrangements. Because the BCR-ABL fusion gene appears to be the result of cytogenetic rearrangement in all cases of these leukemias, the causes and mechanism of chromosome rearrangement will be relevant to the development of leukemia in man. We examine mechanisms of chromosome rearrangement and propose that both simple and complex chromosome translocations result from a single, though sometimes complex, interchange event.
BCR基因与ABL基因的融合是具有费城染色体的一组人类白血病的基本特征，并且最近有证据表明人类BCR-ABL融合基因在实验动物中可诱发白血病。这两个基因的融合是细胞遗传学易位的结果，通常是t(9;22)(q34;q11)，但有时是更复杂的易位，除了9号和22号染色体外还涉及一条或多条染色体。一些患者的白血病细胞携带BCR-ABL融合基因，但核型明显正常。最近的研究表明，这些细胞隐藏着复杂的染色体重排。由于在所有这些白血病病例中，BCR-ABL融合基因似乎都是细胞遗传学重排的结果，因此染色体重排的原因和机制将与人类白血病的发生发展相关。我们研究了染色体重排的机制，并提出简单和复杂的染色体易位均源于单一的，尽管有时是复杂的交换事件。
