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.

journal_name

Blood

journal_title

Blood

authors

Wang L,Ogawa S,Hangaishi A,Qiao Y,Hosoya N,Nanya Y,Ohyashiki K,Mizoguchi H,Hirai H

doi

10.1182/blood-2003-01-0031

subject

Has Abstract

pub_date

2003-10-01 00:00:00

pages

2597-604

issue

7

eissn

0006-4971

issn

1528-0020

pii

2003-01-0031

journal_volume

102

pub_type

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