纯合性运行
生物
近亲繁殖
疾病基因鉴定
遗传学
近亲繁殖抑郁症
遗传建筑学
单倍型
人口
疾病
数量性状位点
进化生物学
基因型
单核苷酸多态性
基因
人口学
表型
医学
外显子组测序
病理
社会学
作者
Francisco Ceballos,Peter K. Joshi,David W. Clark,Michèle Ramsay,James F. Wilson
摘要
Runs of homozygosity (ROH) are genomic regions of homozygosity where the identical maternal and paternal haplotypes are descended from a shared common ancestor, and they are well known to occur as a result of inbreeding. This article discusses strategies for detecting ROH, their underappreciated prevalence across diverse outbred populations and implications for complex traits and human disease. 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.
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