生物谷報道：人類本身的遺傳變異和進化一直不清楚,。因為我們知道人類的基因組和猩猩的基因組都非常相似,，那么人類是如何變異的呢,？美國和瑞典科學(xué)家最新發(fā)現(xiàn)在人類基因組上存在大規(guī)模的基因copy數(shù)的多態(tài)性改變，所謂大規(guī)模改變,，指多于10萬個以上堿基的改變或變化,。發(fā)現(xiàn)了70個基因存在這一情況，表明人類的基因組上的差別可能是決定人類個體差異和進化的一種可能因素,。這篇文章發(fā)表于剛剛出版的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.