Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy.

VernacularTitle:纯合区域/单亲二体的判定及临床咨询原则
Author: Lifen ZHU ¹ ; Huimin ZHANG ; Zhihua LI ; Weiqiang LIU ; Xiaofang SUN
Author Information

1. 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. xiaofangsun@gzhmu.edu.cn.
Publication Type:Journal Article
MeSH: Gene Expression; Genomic Imprinting; Homozygote; Humans; Uniparental Disomy/genetics*
From: Chinese Journal of Medical Genetics 2021;38(11):1140-1144
CountryChina
Language:Chinese
Abstract: 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.