Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Parktown 2193, Johannesburg, South Africa.
Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
Nat Rev Genet. 2018 Apr;19(4):220-234. doi: 10.1038/nrg.2017.109. Epub 2018 Jan 15.
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals. The number and length of ROH reflect individual demographic history, while the homozygosity burden can be used to investigate the genetic architecture of complex disease. We discuss how to identify ROH in genome-wide microarray and sequence data, their distribution in human populations and their application to the understanding of inbreeding depression and disease risk.
长段纯合性（ROH）是指从父母双方遗传相同的单倍型，从而导致较长的基因型纯合。表亲结婚或近亲繁殖会导致这种同系繁殖；然而，全基因组数据显示，即使在杂合个体中，ROH 在人类基因组中也是普遍存在的。ROH 的数量和长度反映了个体的人口历史，而纯合负担可以用于研究复杂疾病的遗传结构。我们讨论了如何在全基因组微阵列和序列数据中识别 ROH，它们在人类群体中的分布以及它们在理解近交衰退和疾病风险中的应用。
