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J Zhejiang Univ (Med Sci)  2019, Vol. 48 Issue (5): 560-566    DOI: 10.3785/j.issn.1008-9292.2019.10.15
Research progress on uniparental disomy in cancer
CHEN Dianyu1,2(),QI Ming1,2,3,*()
1. Department of Genetics, Zhejiang University School of Medicine, Hangzhou 310058, China
2. International Precision Medicine Research Center, Zhejiang-California International Nanosystems Institute, Hangzhou 310058, China
3. Di'an Diagnostics, Hangzhou 310030, China
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Uniparental disomy (UPD) refers to a chromosome defect that an individual's homologous chromosome or segments are inherited from one parent. UPD can cause either aberrant patterns of genomic imprinting or homozygosity of mutations, leading to various diseases, including cancer. The mechanisms of UPD formation are diverse but largely due to the incorrect chromosome separation during cell division. UPD does not alter the number of gene copies, thus is difficult to be detected by conventional cytogenetic techniques effectively. Assisted by the new techniques such as single nucleotide polymorphism arrays, more and more UPD-related cases have been reported recently. UPD events are non-randomly distributed across cancer types, which play important role in the occurrence, development and metastasis of cancer. Here we review the research progress on the formation mechanisms, detection methods, the involved chromosomal regions and genes, and clinical significance of UPD; and also discuss the directions for future studies in this field.

Key wordsNeoplasms      Uniparental disomy      Polymorphism, single nucleotide      Chromosome aberrations      Oncogenes      Genes, tumor suppressor      Review     
Received: 12 March 2019      Published: 04 January 2020
CLC:  R394.3  
Corresponding Authors: QI Ming     E-mail:;
Cite this article:

CHEN Dianyu,QI Ming. Research progress on uniparental disomy in cancer. J Zhejiang Univ (Med Sci), 2019, 48(5): 560-566.

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关键词: 肿瘤,  单亲二体性,  多态性, 单核苷酸,  染色体畸变,  癌基因,  基因, 肿瘤抑制,  综述 
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