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Genome-Wide Single Nucleotide Polymorphism Analysis Reveals Frequent Partial Uniparental Disomy Due to Somatic Recombination in Acute Myeloid Leukemias
Open accessAbstract
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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Cited by
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The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE
Guerreiro, R. J., Gustafson, D. R., & Hardy, J. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.03.025 · Cited by 285
Harada, T., Chelala, C., Bhakta, V, Chaplin, T., Caulee, K., Baril, P., Young, B. D., & Lemoine, N. R. (2008) · Oncogene · doi:10.1038/sj.onc.1210832 · Cited by 159
“Analysing matched normal DNA in parallel with tumour DNA, SNP arrays can be a powerful tool for the genome-wide detection of LOH/UPD regions because we could completely exclude consanguinity as a cause of homozygosity (Fitzgibbon et al., 2005; Raghavan et al., 2005; Andersen et al., 2007).”
BackgroundSelf-citation
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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