Coupling genomics and human genetics to delineate basic mechanisms of development.
Coupling genomics and human genetics to delineate basic mechanisms of development.
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将基因组学和人类遗传学结合起来，描绘发育的基本机制。
DOI：
10.1097/00125817-200211001-00008
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发表时间：
2002
期刊：
影响因子：
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通讯作者：
Biesecker,LeslieG
中科院分区：
文献类型：
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作者：
Biesecker,LeslieG
本文根据作者于2001年7月3-4日在韩国首尔举行的第三届牙山-哈佛医学国际研讨会上发表的关于“基因组学和蛋白质组学：对医学和健康的影响”的报告，讨论了一种迭代转化研究方法，以阐明人类发展的基本机制。对人类的研究，以增加对哺乳动物发育的理解，具有关键的优势，使其局限性可以接受某些类型的研究。例如，通过观察受出生缺陷影响的家庭，研究人员可以深入了解发育的基本机制，以及基因如何编程生物体以呈现其永久或成年的形态形状。许多畸形综合征有一些重叠的表现，尽管是表型，在某些情况下，遗传不同。研究人员可以从中学到什么？作者的研究小组对患有Pallister-Hall综合征的家庭进行了临床和遗传分析。然后，研究人员继续研究McKusick-Kaufman综合征，这是一种在宾夕法尼亚州兰开斯特县的旧秩序阿米什人中更常见的疾病，试图更多地了解基因，遗传途径和综合征家族。
This article, based on a presentation given by the author at the third Asan-Harvard Medical International Symposium on “Genomics and Proteomics: Impact on Medicine and Health” in Seoul, Korea, July 3–4, 2001, discusses an iterative translational research approach to delineate the basic mechanism of human development. The study of humans to increase the understanding of mammalian development has critical advantages that make its limitations acceptable for certain types of studies. For instance, by looking at families affected by birth defects, researchers can gain insight into the basic mechanisms of development and how genes program organisms to assume their permanent, or adult, morphological shapes. A number of malformation syndromes have some overlapping manifestations, despite being phenotypically and, in some cases, genetically distinct. What can researchers learn from this? The author's research group clinically and genetically analyzed families affected with the Pallister-Hall syndrome. The researchers then went on to look at the McKusick-Kaufman syndrome, a disorder that is more common among the Old Order Amish of Lancaster County, Pennsylvania, in an attempt to understand more about genes, genetic pathways, and syndrome families.