了解唐氏综合征表型的基础。
Understanding the basis for Down syndrome phenotypes.
作者信息
Roper Randall J, Reeves Roger H
机构信息
Department of Physiology at Johns Hopkins University School of Medicine, and at McKusick-Nathans Institute for Genetic Medicine, Baltimore, Maryland, United States of America.
出版信息
PLoS Genet. 2006 Mar;2(3):e50. doi: 10.1371/journal.pgen.0020050.
Abstract
Down syndrome is a collection of features that are caused by trisomy for human Chromosome 21. While elevated transcript levels of the more than 350 genes on the chromosome are primarily responsible, it is likely that multiple genetic mechanisms underlie the numerous ways in which development and function diverge in individuals with trisomy 21 compared to euploid individuals. We consider genotype-phenotype interactions with the goal of producing working concepts that will be useful for approaches to ameliorate the effects of trisomy.
摘要
唐氏综合征是由人类21号染色体三体性引起的一系列特征。虽然该染色体上350多个基因的转录水平升高是主要原因，但与整倍体个体相比，21三体个体的发育和功能在众多方面出现差异，很可能有多种遗传机制在起作用。我们考虑基因型与表型的相互作用，目的是形成实用的概念，以用于减轻三体性影响的方法。
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