Trisomy 21 and Down syndrome: a short review

Brazilian Journal of Biology

Ca. Sommer¹  F. Henrique-silva¹ 

[1] ,Universidade Federal de São Carlos Departamento de Genética e Evolução São Carlos SP ,Brazil

关键词: Down syndrome;    trisomy;    HSA21;    gene-expression analysis;    Síndrome de Down;    trissomia do 21;    HSA21;    análise da expressão gênica;   

DOI  :  10.1590/S1519-69842008000200031

来源: SciELO

【 摘 要 】

Even though the molecular mechanisms underlying the Down syndrome (DS) phenotypes remain obscure, the characterization of the genes and conserved non-genic sequences of HSA21 together with large-scale gene expression studies in DS tissues are enhancing our understanding of this complex disorder. Also, mouse models of DS provide invaluable tools to correlate genes or chromosome segments to specific phenotypes. Here we discuss the possible contribution of HSA21 genes to DS and data from global gene expression studies of trisomic samples.

【 授权许可】

CC BY   
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