Genetics of psychiatric disorders methods: molecular approaches.

Genetics of psychiatric disorders methods: molecular approaches.
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精神疾病的遗传学方法:分子方法。

DOI:
10.1016/j.psc.2009.12.006
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发表时间:
2010-03
影响因子:
1.7
通讯作者:
Avramopoulos, Dimitrios
Avramopoulos, Dimitrios
中科院分区:
医学3区
文献类型:
--
作者:
Avramopoulos, Dimitrios

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1990 年人类基因组计划的启动引发了 DNA 分析技术的前所未有的技术进步,自 2001 年完成第一稿以来,我们对人类基因组的理解取得了巨大进步。与此同时,人们的兴趣从孟德尔疾病的遗传原因(其中大部分是通过连锁分析和定位克隆发现的)转移到了复杂疾病(包括精神疾病)的遗传原因。 事实证明,这些疾病对连锁方法来说更具挑战性。新技术,加上我们对基因组特性的新知识,以及为收集大量患者和对照样本而付出的巨大努力,使得全基因组关联研究取得了成功。结果是,目前文献中每周都会出现一些报告,以确定复杂疾病的新基因。我们还远没有完全解释复杂疾病的遗传成分,但我们肯定更接近能够利用新信息来预防和治疗疾病。下一代测序方法,结合关联研究和连锁研究的结果,将帮助我们发现缺失的遗传性,更好地了解精神疾病的遗传方面,以及将遗传学纳入患者服务的最佳策略。
The launch of the Human Genome Project in 1990 triggered unprecedented technological advances in DNA analysis technologies, followed by tremendous advances in our understanding of the human genome since the completion of the first draft in 2001. During the same time the interest shifted from the genetic causes of the Mendelian disorders, most of which were uncovered through linkage analyses and positional cloning, to the genetic causes of complex (including psychiatric) disorders that proved more of a challenge for linkage methods. The new technologies, together with our new knowledge of the properties of the genome, and significant efforts towards generating large patient and control sample collections, allowed for the success of genome-wide association studies. The result has been that reports currently appear in the literature every week identifying new genes for complex disorders. We are still far from completely explaining the heritable component of complex disorders, but we are certainly closer to being able to use the new information towards prevention and treatment of illness. Next-generation sequencing methods, combined with the results of association and perhaps linkage studies, will help us uncover the missing heritability and achieve a better understanding of the genetic aspects of psychiatric disease, as well as the best strategies for incorporating genetics in the service of patients.
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