Molecular Study on the Chromosome 15 Breakpoints in the Translocation t(15; 17) in Acute Promyelocytic Leukemia (APL)  

作　　者：董硕 童建华 黄薇 陈赛娟 陈竺 王振义 耿解萍 戚正武 

机构地区：[1]Laboratory of Molecular Biology, Shanghai Institut of Hematology, Shanghai Rui-Jin Hospital, Shanghai Second Medical University, Shanghai 200025, PRC [2]Institute of Biochemistry, Academia Sinica, Shanghai 200031, PRC

出　　处：《Science China Chemistry》1993年第9期1101-1109,共9页中国科学（化学英文版）

基　　金：Preject supported by grant from the Chinese Foundation for High Technology (863).

摘　　要：Chromosomal translocation t(15; 17) is a specific marker of acute promyelocytic leukemia (APL). In this study, molecular cloning of the t(15;17) breakpoint was carried out in a Chinese APL patient. It has been shown that the retinoic acid receptor alpha (RARA) gene, normally located on chromosome 17, was fused with a new transcription unit PML, normally localized on chromosome 15. We have subsequently cloned a portion of the PML gene and generated a panel of probes. A PML gene rearrangement was detected in 33 out of 36 APL cases studied. 24 rearrangements were clustered in a 4.4 kb region, designated here as PML^(bcr1) whereas 9 rearrangements were concentrated in a 6.5 kb region, defining another breakpoint cluster region (PML^(bcr2)). These two types of rearrangement constitute the basis for the heterogeneity of the PML-RARA fusion gene and its possible biological significance remains to be explored.Chromosomal translocation t（15; 17） is a specific marker of acute promyelocytic leukemia （APL）. In this study, molecular cloning of the t（15;17） breakpoint was carried out in a Chinese APL patient. It has been shown that the retinoic acid receptor alpha （RARA） gene, normally located on chromosome 17, was fused with a new transcription unit PML, normally localized on chromosome 15. We have subsequently cloned a portion of the PML gene and generated a panel of probes. A PML gene rearrangement was detected in 33 out of 36 APL cases studied. 24 rearrangements were clustered in a 4.4 kb region, designated here as PML^bcr1 whereas 9 rearrangements were concentrated in a 6.5 kb region, defining another breakpoint cluster region (PML^bcr2). These two types of rearrangement constitute the basis for the heterogeneity of the PML-RARA fusion gene and its possible biological significance remains to be explored.

关 键 词：acute promyelocytie leukemia(APL) chromosomal TRANSLOCATION RETINOIC acid receptor alpha(RARA) GENE promyeloeytic leukemia(PML) gene. 

分 类 号：O6[理学—化学]