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美国医学遗传学与基因组学学院:记录疑似近亲婚配作为基因组检测偶然发现的标准和准则。

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.

机构信息

Duke University Health System, Durham, NC, USA.

出版信息

Genet Med. 2013 Feb;15(2):150-2. doi: 10.1038/gim.2012.169. Epub 2013 Jan 17.

Abstract

Genomic testing, including single-nucleotide polymorphism-based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can indicate a familial relationship between the proband's parents. This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific p-arental relationship. It is designed to guide the documentation of suspected consanguinity by clinical laboratory professionals and to alert laboratories to the need to establish a reporting policy in conjunction with their ethics review committee and legal counsel.

摘要

基因组检测,包括基于单核苷酸多态性的微阵列和全基因组测序,可检测显示纯合性的基因组大片段。当这些片段分布在多个染色体上时,可表明先证者父母之间存在家族关系。本文描述了通过基因组检测检测可能的近亲婚配的方法,以及干扰特定亲子关系推断的因素。其旨在指导临床实验室专业人员记录可疑近亲婚配,并提醒实验室需要与其伦理审查委员会和法律顾问一起制定报告政策。

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