Genotyping of human diagnosic AML samples reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias

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 se

ORGANISM(S): Homo sapiens

SUBMITTER: Manoj Raghavan 

PROVIDER: E-GEOD-7490 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress