生物谷报道：人类本身的遗传变异和进化一直不清楚。因为我们知道人类的基因组和猩猩的基因组都非常相似，那么人类是如何变异的呢？美国和瑞典科学家最新发现在人类基因组上存在大规模的基因copy数的多态性改变，所谓大规模改变，指多于10万个以上碱基的改变或变化。发现了70个基因存在这一情况，表明人类的基因组上的差别可能是决定人类个体差异和进化的一种可能因素。这篇文章发表于刚刚出版的Science上。
The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs, and the average length of a CNP interval was 465 kilobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease.
