title: Molecular study on the chromosome 15 breakpoints in the translocation t(15; 17) in acute promyelocytic leukemia (APL).
abstract: 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 PMLbcr1 whereas 9 rearrangements were concentrated in a 6.5 kb region, defining another breakpoint cluster region (PMLbcr2). 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.
authors.affiliation: Laboratory of Molecular Biology, Shanghai Institute of Hematology, Shanghai Rui-Jin Hospital, Shanghai Second Medical University, PRC.
authors.forename: S
authors.initials: S
authors.lastname: Dong
authors.forename: J H
authors.initials: JH
authors.lastname: Tong
authors.forename: W
authors.initials: W
authors.lastname: Huang
authors.forename: S J
authors.initials: SJ
authors.lastname: Chen
authors.forename: Z
authors.initials: Z
authors.lastname: Chen
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Wang
authors.forename: J P
authors.initials: JP
authors.lastname: Geng
authors.forename: Z W
authors.initials: ZW
authors.lastname: Qi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics; D018168:Receptors, Retinoic Acid / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D009363:Neoplasm Proteins; D018168:Receptors, Retinoic Acid