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Genome-Wide Single Nucleotide Polymorphism Analysis Reveals Frequent Partial Uniparental Disomy Due to Somatic Recombination in Acute Myeloid Leukemias

Open access
Raghavan, Manoj, Lillington, Debra M., Skoulakis, Spyros, Debernardi, Silvana, Chaplin, Tracy, Foot, Nicola J., Lister, T. Andrew, Young, Bryan D.·2005·Cancer Research

Abstract

Genome-wide analysis of single nucleotide polymorphisms in 64 acute myeloid leukemias has revealed that ∼20% exhibited large regions of homozygosity that could not be accounted for by visible chromosomal abnormalities in the karyotype. Further analysis confirmed that these patterns were due to partial uniparental disomy (UPD). Remission bone marrow was available from five patients showing UPD in their leukemias, and in all cases the homozygosity was found to be restricted to the leukemic clone. Two examples of UPD11p were shown to be of different parental origin as indicated by the methylation pattern of the H19 gene. Furthermore, a previously identified homozygous mutation in the CEBPA gene coincided with a large-scale UPD on chromosome 19. These cryptic chromosomal abnormalities, which seem to be nonrandom, have the characteristics of somatic recombination events and may define an important new subclass of leukemia.

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Metadata

Authors
Raghavan, M., Lillington, D. M., Skoulakis, S., Debernardi, S., Chaplin, T., Foot, N. J., Lister, T. A., & Young, B. D.
Venue
Cancer Research
Published
2005-01-15
Volume
65
Issue
2
Pages
375-378
ISSN
  • 0008-5472 (ISSN-L)
  • 1538-7445
OpenAlex
W2163688965
Cited by
269
References
0
FWCI
21.24
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Genome-Wide Single Nucleotide Polymorphism Analysis Reveals Frequent Partial Uniparental Disomy Due to Somatic Recombination in Acute Myeloid Leukemias. https://app.cochat.ai/papers/10.1158/0008-5472.375.65.2
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Raghavan, M., Lillington, D. M., Skoulakis, S., Debernardi, S., Chaplin, T., Foot, N. J., Lister, T. A., & Young, B. D. (2005). Genome-Wide Single Nucleotide Polymorphism Analysis Reveals Frequent Partial Uniparental Disomy Due to Somatic Recombination in Acute Myeloid Leukemias. Cancer Research. https://doi.org/10.1158/0008-5472.375.65.2

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