Faculty of Medicine, University of Southampton, Southampton, UK.
Hematol Oncol Clin North Am. 2012 Oct;26(5):981-91. doi: 10.1016/j.hoc.2012.07.002. Epub 2012 Aug 18.
The finding of somatically acquired uniparental disomy, where both copies of a chromosome pair or parts of chromosomes have originated from one parent, has led to the discovery of several novel mutated genes in myeloproliferative neoplasms and related disorders. This article examines how the development of single nucleotide polymorphism array technology has facilitated the identification of regions of acquired uniparental disomy and has led to a much greater understanding of the molecular pathology of these heterogeneous diseases.
体细胞获得性单亲二体性的发现,即一对染色体或染色体的部分都来自一个亲本,导致了在骨髓增生性肿瘤及其相关疾病中发现了几个新的突变基因。本文探讨了单核苷酸多态性微阵列技术的发展如何促进了获得性单亲二体性区域的鉴定,并使人们对这些异质性疾病的分子病理学有了更深入的了解。