犹他州基于家庭的分析：过去、现在与未来。

Utah family-based analysis: past, present and future.

作者信息

Cannon Albright Lisa A

机构信息

Division of Genetic Epidemiology, Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA.

出版信息

Hum Hered. 2008;65(4):209-20. doi: 10.1159/000112368. Epub 2007 Jan 11.

DOI:10.1159/000112368

PMID:18073491

Abstract

A unique genealogical resource linked to phenotype data was created in Utah over 30 years ago. Here we review the history and content of this resource. In addition, we review three current methodologies used in conjunction with this resource to define the heritable contribution to phenotypes and to identify predisposition genes responsible for these phenotypes. Example analyses and high-risk pedigrees are presented. Finally we briefly review ways this resource, or others like it, may expand in future.

摘要

30多年前，犹他州创建了一个与表型数据相关的独特系谱资源。在此，我们回顾了该资源的历史和内容。此外，我们还回顾了目前与该资源结合使用的三种方法，以确定对表型的遗传贡献，并识别导致这些表型的易感基因。文中给出了示例分析和高风险系谱。最后，我们简要回顾了该资源或其他类似资源未来可能的扩展方式。