Barøy Tuva, Misceo Doriana, Frengen Eirik
Avdeling for medisinsk genetikk, Ullevål universitetssykehus, Oslo.
Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1951-5.
The human genome contains a large number of single nucleotide polymorphisms (SNPs) that contribute to normal variation of human traits. Many SNPs have also been shown to affect the development and predisposition of disease. Comparisons of genomes have recently shown that also large DNA segments can vary in structure and number of copies between individuals. A large number of duplications, deletions and inversions has been detected, ranging in size from a few thousand to several millions base pairs. Here we describe the structural variations detected in the human genome, their impact on normal phenotypic variation in the population, and how differences in genome structure may contribute to development of disease.
This article is based on studies of literature retrieved through a non-systematic search of PubMed.
Many structural variations in the genome overlap with genes. Duplications and deletions may change the copy number of genes, and inversions may disrupt gene structure. Some of the affected genes contribute to phenotypic variation between healthy individuals, while others can predispose to disease or contribute to disease development. Diseases caused by such structural variations constitute a major health problem in the population.
人类基因组包含大量单核苷酸多态性（SNP），这些多态性导致人类性状的正常变异。许多SNP也已被证明会影响疾病的发生和易感性。最近的基因组比较显示，个体之间的大片段DNA在结构和拷贝数上也可能存在差异。已检测到大量的重复、缺失和倒位，其大小从几千个碱基对到几百万个碱基对不等。在此，我们描述了在人类基因组中检测到的结构变异、它们对人群中正常表型变异的影响，以及基因组结构差异如何可能导致疾病的发生。
本文基于通过对PubMed进行非系统检索获得的文献研究。
基因组中的许多结构变异与基因重叠。重复和缺失可能会改变基因的拷贝数，而倒位可能会破坏基因结构。一些受影响的基因导致健康个体之间的表型变异，而其他基因则可能使人易患疾病或促进疾病发展。由此类结构变异引起的疾病是人群中的一个主要健康问题。
