Tkachuk D C, Westbrook C A, Andreeff M, Donlon T A, Cleary M L, Suryanarayan K, Homge M, Redner A, Gray J, Pinkel D
Lawrence-Livermore National Laboratory, Biomedical and Environmental Sciences Division, CA 94550.
Science. 1990 Oct 26;250(4980):559-62. doi: 10.1126/science.2237408.
Chronic myelogeneous leukemia (CML) is genetically characterized by fusion of the bcr and abl genes on chromosomes 22 and 9, respectively. In most cases, the fusion involves a reciprocal translocation t(9;22)(q34;q11), which produces the cytogenetically distinctive Philadelphia chromosome (Ph1). Fusion can be detected by Southern (DNA) analysis or by in vitro amplification of the messenger RNA from the fusion gene with polymerase chain reaction (PCR). These techniques are sensitive but cannot be applied to single cells. Two-color fluorescence in situ hybridization (FISH) was used with probes from portions of the bcr and abl genes to detect the bcr-abl fusion in individual blood and bone marrow cells from six patients. The fusion event was detected in all samples analyzed, of which three were cytogenetically Ph1-negative. One of the Ph1-negative samples was also PCR-negative. This approach is fast and sensitive, and provides potential for determining the frequency of the abnormality in different cell lineages.
慢性粒细胞白血病（CML）的遗传学特征是分别位于22号和9号染色体上的bcr和abl基因发生融合。在大多数情况下，这种融合涉及相互易位t(9;22)(q34;q11)，产生细胞遗传学上独特的费城染色体（Ph1）。融合可通过Southern（DNA）分析或用聚合酶链反应（PCR）对融合基因的信使RNA进行体外扩增来检测。这些技术很灵敏，但不能应用于单个细胞。使用来自bcr和abl基因部分的探针进行双色荧光原位杂交（FISH），以检测6例患者个体血液和骨髓细胞中的bcr-abl融合。在所有分析的样本中都检测到了融合事件，其中3例细胞遗传学检查为Ph1阴性。其中1例Ph1阴性样本PCR检测也为阴性。这种方法快速且灵敏，为确定不同细胞谱系中异常的频率提供了可能。
