关节挛缩症作为一种综合征：基因本体分析
Arthrogryposis as a Syndrome: Gene Ontology Analysis.
作者信息
Hall Judith G, Kiefer Jeff
机构信息
Departments of a Medical Genetics, University of British Columbia and BC Children's Hospital, Vancouver, B.C., Canada; Departments of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, B.C., Canada.
Translational Genomics Research Institute (TGen), Phoenix, Ariz., USA.
出版信息
Mol Syndromol. 2016 Jul;7(3):101-9. doi: 10.1159/000446617. Epub 2016 Jun 7.
Arthrogryposis by definition has multiple congenital contractures. All types of arthrogryposis have decreased in utero fetal movement. Because so many things are involved in normal fetal movement, there are many causes and processes that can go awry. In this era of molecular genetics, we have tried to place the known mutated genes seen in genetic forms of arthrogryposis into biological processes or cellular functions as defined by gene ontology. We hope this leads to better identification of all interacting pathways and processes involved in the development of fetal movement in order to improve diagnosis of the genetic forms of arthrogryposis, to lead to the development of molecular therapies, and to help better define the natural history of various types of arthrogryposis.
根据定义，先天性多发性关节挛缩症有多种先天性挛缩。所有类型的先天性多发性关节挛缩症都存在宫内胎儿活动减少的情况。由于正常胎儿活动涉及诸多因素，所以有许多可能出错的原因和过程。在这个分子遗传学时代，我们试图将在先天性多发性关节挛缩症的遗传形式中发现的已知突变基因归入由基因本体论定义的生物学过程或细胞功能中。我们希望这能更好地识别与胎儿活动发育相关的所有相互作用的途径和过程，从而改善对先天性多发性关节挛缩症遗传形式的诊断，推动分子疗法的发展，并有助于更好地界定各种类型先天性多发性关节挛缩症的自然病史。
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