title: Molecular characterization of the recurrent unbalanced translocation der(1;7)(q10;p10).
abstract: An unbalanced translocation der(1;7)(q10; p10) is a nonrandom chromosomal aberration commonly observed in myelodysplastic syndrome and acute myeloid leukemia. We molecularly analyzed the breakpoints of der(1;7)(q10;p10) by quantitative fluorescent in situ hybridization (FISH) analyses using centromeric satellite DNAs mapped to chromosomes 1 and 7 as probes. We found that the signal intensities of 2 centromere alphoid probes, D1Z7 on chromosome 1 and D7Z1 on chromosome 7, were almost invariably reduced on the derivative chromosome compared with those on their normal counterparts. These results suggest that this translocation results from the recombination between the 2 alphoids, which was further confirmed by fiber FISH experiments. Because the relative reduction in the intensities of D1Z7 and D7Z1 signals on the derivative chromosomes was highly variable among patients, it was estimated that the breakpoints in these patients were randomly distributed over several megabase pairs within each alphoid cluster except for its extreme end to the short arm. Our results provide a novel insight into the structural basis for generation of this translocation as well as its leukemogenic roles.
authors.affiliation: Department of Hematology & Oncology, Graduate School of Medicine, University of Tokyo, Japan.
authors.forename: Lili
authors.initials: L
authors.lastname: Wang
authors.forename: Seishi
authors.initials: S
authors.lastname: Ogawa
authors.forename: Akira
authors.initials: A
authors.lastname: Hangaishi
authors.forename: Ying
authors.initials: Y
authors.lastname: Qiao
authors.forename: Noriko
authors.initials: N
authors.lastname: Hosoya
authors.forename: Yasuhito
authors.initials: Y
authors.lastname: Nanya
authors.forename: Kazuma
authors.initials: K
authors.lastname: Ohyashiki
authors.forename: Hideaki
authors.initials: H
authors.lastname: Mizoguchi
authors.forename: Hisamaru
authors.initials: H
authors.lastname: Hirai
mesh_terms: D000208:Acute Disease; D000368:Aged; D000483:Alleles; D015139:Blotting, Southern; D002874:Chromosome Mapping / Q000379:methods; D002878:Chromosomes, Human, Pair 1; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007399:Interphase; D007951:Leukemia, Myeloid / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D014178:Translocation, Genetic