体细胞获得性结构基因差异：丹麦老年双胞胎的纵向研究
Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins.
作者信息
Magaard Koldby Kristina, Nygaard Marianne, Christensen Kaare, Christiansen Lene
机构信息
Epidemiology, Biostatistics and Biodemography, Department of Public Health, University of Southern Denmark, Odense, Denmark.
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
出版信息
Eur J Hum Genet. 2016 Oct;24(10):1506-10. doi: 10.1038/ejhg.2016.34. Epub 2016 Apr 20.
Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested that they may accumulate in elderly individuals. To further explore the presence and the age-related acquisition of somatic structural variants in the human genome, we investigated CNVs acquired over a period of 10 years in 86 elderly Danish twins as well as CNV discordances between co-twins of 18 monozygotic twin pairs. Furthermore, the presence of mosaic structural variants was explored. We identified four mosaic acquired uniparental disomy events on chromosome 4q and 14q in the follow-up samples from four individuals, and our study thereby supports the increasing prevalence of somatic mosaic variants with age.
像拷贝数变异（CNV）这样的结构遗传变异构成了人类遗传变异的很大一部分，并且可能会遗传以及体细胞获得。最近的研究报道了人类基因组中存在体细胞获得的结构变异，并且有人提出这些变异可能会在老年人中积累。为了进一步探索人类基因组中体细胞结构变异的存在情况以及与年龄相关的获得情况，我们调查了86对丹麦老年双胞胎在10年期间获得的CNV，以及18对同卵双胞胎中双胞胎之间的CNV不一致情况。此外，还探索了镶嵌结构变异的存在情况。我们在来自四个人的随访样本中鉴定出了染色体4q和14q上的四个镶嵌获得的单亲二体事件，因此我们的研究支持了体细胞镶嵌变异的患病率随年龄增加的观点。
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