Wooding Stephen, Jorde Lynn B
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, 84112, USA.
Bioessays. 2006 Apr;28(4):335-8. doi: 10.1002/bies.20385.
It has become a truism that we humans are genetically about 99% identical to chimpanzees. The origins of this assertion are clear: among early studies of DNA sequences, nucleotide identity between humans and chimpanzees was found to average around 98.9%.(1) However, this figure is correct only with respect to regions of the genome that are shared between humans and chimpanzees. Often ignored are the many parts of their genomes that are not shared. Genomic rearrangements, including insertions, deletions, translocations and duplications, have long been recognized as potentially important sources of novel genomic material(2,3) and are known to account for major genomic differences between humans and chimpanzees.(4) Further, such changes have been implicated in a number of genetic disorders, such as DiGeorge, Angelman/Prader-Willi and Charcot-Marie-Tooth syndromes.(5)
我们人类在基因上与黑猩猩约99%相同，这已成为一个不言而喻的事实。这一论断的起源很明确：在早期的DNA序列研究中，人类和黑猩猩之间的核苷酸同一性平均约为98.9%。(1) 然而，这个数字仅适用于人类和黑猩猩共有的基因组区域。它们基因组中许多不共有的部分常常被忽视。基因组重排，包括插入、缺失、易位和重复，长期以来一直被认为是新基因组物质的潜在重要来源(2,3)，并且已知是人类和黑猩猩之间主要基因组差异的原因。(4) 此外，这些变化与一些遗传疾病有关，如迪乔治综合征、天使综合征/普拉德-威利综合征和夏科-马里-图思综合征。(5)
