Zhu Lifen, Zhang Huimin, Li Zhihua, Liu Weiqiang, Sun Xiaofang
Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Nov 10;38(11):1140-1144. doi: 10.3760/cma.j.cn511374-20210303-00178.
The overall prevalence of uniparental disomy (UPD) across all chromosomes was estimated to be around one birth in 2000. To date, more than 4170 UPD cases have been registered. UPD for chromosomes 6, 7, 11, 14, 15, and 20 can result in clinically recognizable imprinting disorders due to abnormal levels of imprinted gene expression. For other chromosomes, the clinical consequences associated with UPD are not apparent, unless when a recessive genetic disorder is unmasked by UPD or regions of homozygosity (ROH). A clinical practice guideline will assist in strengthening the precise analysis and interpretation of the clinical significance of ROH/UPD. This guideline summarizes the conception, mechanism and clinical consequences of ROH/UPD, as well as the principles for data analysis, with an aim to standardize the clinical application and data interpretation.
据估计，所有染色体单亲二倍体（UPD）的总体发生率约为每2000例出生中出现1例。截至目前，已登记的UPD病例超过4170例。6号、7号、11号、14号、15号和20号染色体的UPD可因印记基因表达水平异常而导致临床上可识别的印记障碍。对于其他染色体，除非UPD或纯合子区域（ROH）揭示出隐性遗传疾病，否则与UPD相关的临床后果并不明显。一份临床实践指南将有助于加强对ROH/UPD临床意义的精确分析和解读。本指南总结了ROH/UPD的概念、机制和临床后果，以及数据分析原则，旨在规范临床应用和数据解读。
