title: bcr-abl mRNA lacking abl exon a2 detected by polymerase chain reaction in a chronic myelogeneous leukemia patient.
abstract: Using the polymerase chain reaction and Southern blot analysis the expression was detected of a bcr-abl mRNA lacking abl exon a2. This was due to a corresponding unusual localization of the breakpoint in the c-abl gene and was seen in a patient with Philadelphia (Ph) chromosome positive chronic myelogeneous leukemia in chronic phase. This type of mRNA has been described only once before in two Ph-positive acute lymphoblastic leukemia patients, by Soekarman et al. (1). The abl exon a2 sequences, which are missing in the three reported patients, code for a part of the SH3 region of the abl protein, which is supposed to be involved in negative regulation of the kinase domain. The clinical significance of this finding is discussed.
authors.affiliation: Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
authors.forename: D C
authors.initials: DC
authors.lastname: van der Plas
authors.forename: D
authors.initials: D
authors.lastname: Soekarman
authors.forename: A M
authors.initials: AM
authors.lastname: van Gent
authors.forename: G
authors.initials: G
authors.lastname: Grosveld
authors.forename: A
authors.initials: A
authors.lastname: Hagemeijer
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005091:Exons; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D016313:Genes, abl; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics / Q000378:metabolism; D015466:Leukemia, Myeloid, Chronic-Phase / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis*
chemical_list: D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl