Human QTL Mapping with Selected Samples

选定样本的人类 QTL 作图

• 批准号: 6364270
• 负责人: Eleanor Feingold
• 金额: $ 6.9万
• 依托单位: UNIVERSITY OF PITTSBURGH AT PITTSBURGH
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-08-01 至 2004-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6364270
• 关键词: analytical method; biotechnology; computer program /software; computer simulation; family genetics; gene expression; genetic models; genotype; human population genetics; linkage mapping; mathematical model; method development; phenotype; quantitative trait loci; statistics /biometry

DESCRIPTION (provided by applicant): One of the most important directions in current biomedical research is the quest to understand the genetic contributions to complex diseases. A critical part of many such investigations is the use of linkage analysis to find possible disease susceptibility loci. Recently, there has been substantial interest in using linkage methods designed for quantitative phenotypes as a tool for finding genes associated with diseases. For example, this approach has been applied to dyslexia, type II diabetes, hypertension, and heart disease. This growth in interest in QTL mapping has been accompanied by a great deal of new work on statistical methods, but little of that work has dealt with selected samples, despite the fact that selected samples are arguably more common than population samples in human QTL mapping. The general aim of this grant is to develop powerful statistics for QTL mapping with selected samples, and powerful designs for selecting such samples. The specific aims are the following. 1) Extend the work of Forrest and Feingold (2000) to develop powerful composite statistics and practical sampling designs for concordant sibling pairs, combined discordant and concordant sibling pair designs, and larger pedigrees selected because of extreme trait values of two or more members. 2) Compare the performance of various test statistics for single-proband ascertainment schemes. 3) Investigate the relative power of population sampling, single-proband sampling, and multiple-proband sampling under various genetic models.

描述（由申请人提供）：最重要的方向之一， 目前的生物医学研究是为了了解遗传 对复杂疾病的贡献。许多此类调查的关键部分 是利用连锁分析来寻找可能的疾病易感基因座。 最近，人们对使用设计的连接方法产生了很大的兴趣。 定量表型作为一种工具，用于寻找与 疾病例如，这种方法已被应用于阅读障碍，II型 糖尿病、高血压和心脏病。对QTL的兴趣的增长 在绘制地图的同时，还开展了大量统计方面的新工作， 方法，但这项工作很少涉及选定的样本，尽管 事实上，选择的样本可以说比人口样本更常见， 人类QTL作图。 该基金的总体目标是为QTL定位开发强有力的统计数据 具有选定的样本，以及用于选择此类样本的强大设计。的 具体目标如下。 1)扩展Forrest和Feingold（2000）的工作，以开发功能强大的复合材料 统计和实际抽样设计的和谐同胞对， 不一致和一致同胞配对设计的组合，以及较大的家系 因为两个或两个以上成员的极端特征值而被选择。 2)比较各种检验统计量对单先证者的性能 确定方案。 3)调查群体抽样的相对功效，单先证者 抽样和多种遗传模型下的多先证者抽样。