单亲二体
生物
CEBPA公司
遗传学
核型
单核苷酸多态性
髓系白血病
SNP阵列
基因
染色体
癌症研究
突变
基因型
作者
Manoj Raghavan,Debra M. Lillington,Spyros Skoulakis,Silvana Debernardi,Tracy Chaplin,Nicola Foot,Tim Lister,Bryan D. Young
出处
期刊:Cancer Research
[American Association for Cancer Research]
日期:2005-01-15
卷期号:65 (2): 375-378
被引量:276
标识
DOI:10.1158/0008-5472.375.65.2
摘要
Genome-wide analysis of single nucleotide polymorphisms in 64 acute myeloid leukemias has revealed that approximately 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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