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【medical-news】第一个大规模帕金森病的基因突变
Researchers at the National Institutes of Health (NIH) have completed one of the first large-scale studies of the role of common genetic variation in Parkinson's disease (PD). While the results fill in some missing pieces of the genetic puzzle, they are primarily of benefit as a starting point for more detailed studies. The information generated by the study is now publicly available in a database that will serve as a valuable research tool for the future.
The study was led by researchers at the National Institute of Aging (NIA) and National Institute of Neurological Disorders and Stroke (NINDS). The data were derived from blood samples of 267 people with PD and 270 neurologically normal individuals. These samples were made available by The NINDS Human Genetics Resource Center at the Coriell Institute (http://ccr.coriell.org/ninds), a publicly-funded bank for human cells, DNA samples, clinical data, and other information that aims to accelerate research on genetics of disorders of the nervous system. Results of the study appear in the September 27, 2006, early online publication of The Lancet Neurology.
"This is, to my knowledge, the first publicly available genotype data of this magnitude outside of the International HapMap effort, and certainly the first disease-linked dataset. I hope that this will prove to be a valuable resource for future genetics work in Parkinson's disease, both for our laboratory and for other researchers around the world," says Andrew Singleton, Ph.D., the NIA researcher who led the study. "The use of neurologically normal controls from the NINDS neurogenetics repository means that these data can be readily used as a control group in future large scale SNP studies performed in many other neurological diseases."
"The NINDS Human Genetics Resource Center has created a resource that allows broad sharing and access to phenotypic and genotypic data, as well as biological samples, with no restrictions. This approach to open, public sharing of genetic materials and data is unprecedented. It will allow scientific progress in the field of genetics to proceed in a much faster way, and in ways we can't even currently anticipate," says Katrina Gwinn-Hardy, M.D., the NINDS program contact for the Human Genetics Resource Center and an author on the paper. 认领了 第一次大规模帕金森病的基因突变研究结果
研究者宣布了一项帕金森病的基因突变研究结果。
国立卫生研究院（NIH）的研究者已经完成了基因突变在帕金森病（PD）中作用的首次大规模研究。他们只是作为更详细研究的起点，然而结果写入遗传上的困惑部分。研究获得的信息目前在一个数据库中公开有效，该数据库将会成为将来有价值的研究工具。
该研究由国立年龄研究院（NIA）和国立神经障碍研究院（NINDS）的研究者领导。数据得自于267例PD患者和270个神经学上正常的个体。这些样本由NINDS人类遗传资源库证明有效。该库位于Coriell研究所（http://ccr.coriell.org/ninds），是人类细胞、DNA样品、临床数据和其他能够促进人类神经系统遗传紊乱研究的公共基金库。研究结果于2006年9月27日在The Lancet Neurology在线发表。
“根据我的知识，这是首次公开有效的基因型数据，是国际HapMap的努力，也是第一个疾病相关数据库。我希望这会为将来PD的遗传学研究和我们的实验室以及世界各地其他研究者提供有效证据。”该研究的负责人NIA研究员Andrew Singleton博士说。“神经系统正常的对照来自NINDS神经遗传学库，这意味着这些数据可以进行其他许多神经系统疾病大规模的SNP研究中的对照组。”
“NINDS人类遗传资源中心创造了一个允许更广分享和使用，并且没有限制的表型基因型数据以及生物学样品。这些方法公开、遗传物质和数据公共分享是史无前例的。这将会允许遗传学领域在科学上以更快的甚至我们不能预测的速度进步。”NINDS程序的人类遗传资源中心和这篇文章的作者Katrina Gwinn-Hardy说。 觉得这个消息对基因多态性的研究很有用，请问逃版主：这次大规模帕金森病的基因突变研究结果在那里能找到？谢谢！ [标签:content1][标签:content2]
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作者:admin@医学,生命科学 2011-08-24 05:12
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