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浙江大学学报（医学版）
浙江大学学报（医学版）  2019, Vol. 48 Issue (5): 560-566    DOI: 10.3785/j.issn.1008-9292.2019.10.15
综述     
单亲二体及其在癌症中的作用研究进展
陈钿雨1,2(),祁鸣1,2,3,*()
1. 浙江大学医学院遗传学系, 浙江 杭州 310058
2. 浙江加州国际纳米技术研究院国际精准医学研究中心, 浙江 杭州 310058
3. 迪安诊断, 浙江 杭州 310030
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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摘要：

单亲二体（UPD）是指个体的同源染色体或其上的一部分均来自于双亲中一方的一种染色体缺陷，能够造成基因印记障碍或基因纯合突变，从而导致各类疾病，包括癌症。UPD的形成机制多样，主要由细胞分裂时染色体未正确分离所致。UPD不改变基因拷贝数，导致传统的细胞遗传学检测手段难以对其进行有效鉴定。近年来，随着单核苷酸多态性阵列等技术的出现，越来越多的UPD相关病例被检出，并发现其以非随机的形式出现在不同类型的癌症中，在癌症的发生、发展以及转移等过程中发挥重要作用。本文从UPD的形成机制、检测方法、影响区域、涉及基因、临床预后价值等方面，综述UPD在癌症中的作用研究进展，并讨论其发展趋势。
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    
Abstract:

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 words: Neoplasms    Uniparental disomy    Polymorphism, single nucleotide    Chromosome aberrations    Oncogenes    Genes, tumor suppressor    Review
收稿日期: 2019-03-12 出版日期: 2020-01-04
:  R394.3  
通讯作者: 祁鸣     E-mail: 21618578@zju.edu.cn;mingqi@zju.edu.cn
作者简介: 陈钿雨(1994-), 男, 硕士研究生, 主要从事遗传与基因组医学研究; E-mail:21618578@zju.edu.cn; https://orcid.org/0000-0002-4217-2279
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引用本文:

陈钿雨,祁鸣. 单亲二体及其在癌症中的作用研究进展[J]. 浙江大学学报（医学版）, 2019, 48(5): 560-566.

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

链接本文:

http://www.zjujournals.com/med/CN/10.3785/j.issn.1008-9292.2019.10.15    或    http://www.zjujournals.com/med/CN/Y2019/V48/I5/560

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