University of Kansas Medical Center, Kansas City, KS.
ARUP Laboratories, Salt Lake City, UT; The University of Utah, Salt Lake City, UT.
Genet Med. 2022 Feb;24(2):255-261. doi: 10.1016/j.gim.2021.10.004. Epub 2021 Dec 3.
Genomic testing, including single-nucleotide variation (formerly single-nucleotide polymorphism)-based chromosomal microarray and exome and genome sequencing, can detect long regions of homozygosity (ROH) within the genome. Genomic testing can also detect possible uniparental disomy (UPD). Platforms that can detect ROH and possible UPD have matured since the initial American College of Medical Genetics and Genomics (ACMG) standard was published in 2013, and the detection of ROH and UPD by these platforms has shown utility in diagnosis of patients with genetic/genomic disorders. The presence of these segments, when distributed across multiple chromosomes, may indicate a familial relationship between the proband's parents. This technical standard describes the detection of possible consanguinity and UPD by genomic testing, as well as the factors confounding the inference of a specific parental relationship or UPD. Current bioethical and legal issues regarding detection and reporting of consanguinity are also discussed.
基因组检测，包括基于单核苷酸变异（原单核苷酸多态性）的染色体微阵列和外显子组及基因组测序，可检测基因组内大片段的纯合性（ROH）。基因组检测还可以检测可能的单亲二体性（UPD）。自 2013 年首次发布美国医学遗传学与基因组学学院（ACMG）标准以来，能够检测 ROH 和可能 UPD 的平台已经成熟，这些平台对遗传/基因组疾病患者的检测具有实际应用价值。当这些片段分布在多个染色体上时，可能表明先证者父母之间存在亲缘关系。本技术标准描述了通过基因组检测检测可能的亲缘关系和 UPD，以及影响特定亲子关系或 UPD 推断的因素。还讨论了目前关于亲缘关系检测和报告的生物伦理和法律问题。
