Aguiar R C, Chase A, Oscier D G, Carapeti M, Goldman J M, Cross N C
Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom.
Genes Chromosomes Cancer. 1997 Dec;20(4):408-11.
We have used Southern blotting and fluorescence in situ hybridization (FISH) to define the breakpoints of a reciprocal translocation, t(10;12)(q24;p13), acquired as a secondary abnormality in a patient with Philadelphia chromosome positive chronic myeloid leukemia (CML) in transformation. A YAC clone that spanned the breakpoint at 12p13 was identified; this YAC included the CDKN1B gene but did not include ETV6. Neither ETV6 nor CDKN1B was rearranged, as determined by FISH and Southern blotting; however, a small deletion encompassing the translocated CDKN1B allele was detected. Analysis of two candidate genes at 10q24, HOX11 and NFKB2 suggested that they are not involved in this translocation. The preliminary mapping of breakpoints in this case demonstrated that they are different from an apparently identical translocation identified previously in a patient with myelodysplastic syndrome. The identification of the split YAC and small deletion should enable a more focused search for a gene or genes that may contribute to progression from chronic phase to blast crisis in CML.
我们运用Southern印迹法和荧光原位杂交（FISH）技术来确定一位费城染色体阳性慢性髓性白血病（CML）急变期患者所获得的相互易位t(10;12)(q24;p13)的断点。鉴定出一个跨越12p13断点的酵母人工染色体（YAC）克隆；该YAC包含CDKN1B基因，但不包含ETV6基因。通过FISH和Southern印迹法确定，ETV6和CDKN1B均未发生重排；然而，检测到一个包含易位的CDKN1B等位基因的小缺失。对10q24处的两个候选基因HOX11和NFKB2的分析表明，它们不参与此次易位。该病例中断点的初步定位显示，它们与先前在一位骨髓增生异常综合征患者中鉴定出的明显相同的易位不同。分裂YAC和小缺失的鉴定应能更有针对性地寻找可能导致CML从慢性期进展至急变期的一个或多个基因。
