Too much of a good thing: mechanisms of gene action in Down syndrome.
Too much of a good thing: mechanisms of gene action in Down syndrome.
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太多的好事：唐氏综合症的基因作用机制。
DOI：
10.1016/s0168-9525(00)02172-7
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
Richtsmeier,JT
中科院分区：
文献类型：
--
作者：
Reeves,RH;Baxter,LL;Richtsmeier,JT
唐氏综合征（DS）个体特定性状的分子机制被假定来自平衡遗传程序的非特异性干扰，或来自21号染色体上一小部分基因的简单孟德尔式影响。然而，这些模型并没有提供一个全面的解释21三体的影响的实验或临床观察。DS最好被视为一种复杂的遗传疾病，其中特定个体的特定表型表现是遗传，环境和随机影响的产物。小鼠模型，概括的遗传基础和三体性的表型后果提供了一个实验系统来定义这些贡献。
The molecular mechanisms underlying the specific traits in individuals with Down syndrome (DS) have been postulated to derive either from nonspecific perturbation of balanced genetic programs, or from the simple, mendelian-like influence of a small subset of genes on chromosome 21. However, these models do not provide a comprehensive explanation for experimental or clinical observations of the effects of trisomy 21. DS is best viewed as a complex genetic disorder, where the specific phenotypic manifestations in a given individual are products of genetic, environmental and stochastic influences. Mouse models that recapitulate both the genetic basis for and the phenotypic consequences of trisomy provide an experimental system to define these contributions.