Geng J P, Tong J H, Dong S, Wang Z Y, Chen S J, Chen Z, Zelent A, Berger R, Larsen C J
Laboratory of Molecular Biology, Rui-Jin Hospital, Shanghai Second Medical University, China.
Leukemia. 1993 Jan;7(1):20-6.
Translocation (15;17)(q22;q12-q21) is a chromosome aberration specifically found in acute promyelocytic leukemia (APL), that generates a chimeric gene between the promyelocytic leukemia (PML) gene on chromosome 15 and the retinoic acid receptor alpha (RARA) gene, on chromosome 17. In the course of molecular investigations of a series of 28 Chinese patients with APL, we have simultaneously used Southern blot and reverse transcriptase polymerase chain reaction (RT-PCR) analysis to characterize the PML gene breakpoints on chromosome 15 and identify PML-RARA fusion transcripts. Our results confirmed the existence of the three recently described bcr1, bcr2, and bcr3 breakpoint cluster regions. In addition, structural data provided by PML-RARA transcripts allowed us to more accurately locate the 3' borders of clusters bcr1 and bcr3. Moreover, our data suggest a preferential localization of the breakpoints within bcr1 and bcr3. The primary structure of a 1.4 kb DNA segment flanking the 5' part of the PML gene and that of the bcr3 cluster (2.1 kb) were also established.
易位(15;17)(q22;q12 - q21)是一种在急性早幼粒细胞白血病(APL)中特有的染色体畸变，它在15号染色体上的早幼粒细胞白血病(PML)基因和17号染色体上的维甲酸受体α(RARA)基因之间产生一个嵌合基因。在对28例中国APL患者进行分子研究的过程中，我们同时使用Southern印迹法和逆转录聚合酶链反应(RT-PCR)分析来鉴定15号染色体上PML基因的断点并识别PML-RARA融合转录本。我们的结果证实了最近描述的三种bcr1、bcr2和bcr3断点簇区域的存在。此外，PML-RARA转录本提供的结构数据使我们能够更准确地定位bcr1和bcr3簇的3'边界。而且，我们的数据表明断点在bcr1和bcr3内有优先定位。还确定了PML基因5'部分侧翼的一个1.4 kb DNA片段以及bcr3簇(2.1 kb)的一级结构。
