作者: David L Nelson , Richard A Gibbs
关键词: Trisomy 、 Craniofacial abnormality 、 Chromosome 21 、 Biology 、 Down syndrome 、 Genetics
摘要: Down syndrome caused by trisomy of human chromosome 21 is one the most common genetic diseases, occurring in 1 out every 700 live births. In their Perspective, [Nelson and Gibbs][1] discuss a new mouse model ([ Olson et al .][2]), which shows that triplication segment containing 33 critical-region genes does not result craniofacial abnormalities typical disease. The authors point this refutes notion directly responsible for syndrome. [1]: http://www.sciencemag.org/cgi/content/full/306/5696/619 [2]: http://www.sciencemag.org/cgi/content/short/306/5696/687