Molecular characterization of the recurrent unbalanced translocation der(1;7)(q10;p10)

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 centrome...

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Bibliographic Details
Published in:Blood 2003-10, Vol.102 (7), p.2597-2604
Main Authors: Wang, Lili, Ogawa, Seishi, Hangaishi, Akira, Qiao, Ying, Hosoya, Noriko, Nanya, Yasuhito, Ohyashiki, Kazuma, Mizoguchi, Hideaki, Hirai, Hisamaru
Format: Article
Language:English
Subjects:
Acute Disease
Aged
Alleles
Biological and medical sciences
Blotting, Southern
Chromosome Mapping - methods
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 7
Female
Hematologic and hematopoietic diseases
Humans
In Situ Hybridization, Fluorescence - methods
Interphase
Leukemia, Myeloid - genetics
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
Medical sciences
Middle Aged
Myelodysplastic Syndromes - genetics
Translocation, Genetic
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Summary: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. (Blood. 2003;102:2597-2604)
ISSN:0006-4971
1528-0020
DOI:10.1182/blood-2003-01-0031