GENETIC, EVOLUTIONARY, AND PHYLOGENETIC ANALYSIS OF HUMAN ALLELES

群体遗传学、分子进化和系统发育重建 是一系列学科的连续体，提供了不同的观点 人类遗传疾病的一些更有趣的问题， 包括癌症。 理论与应用的重大进展 这些学科现在可以通过极其详细的 对人类和其他基因组的理解正在兴起。 研究 该项目的目标主要涉及开发和 人口统计、遗传和系统发育分析的应用。 在 特别是，这些分析模式被用来支持新基因 映射策略包括识别和定位 疾病和疾病易感基因的研究绘制 等位基因内的关键功能和疾病相关基序 人类主要组织相容性复合体。 这些项目是相互关联的， 并拥有推断历史关联模式的共同目标 以及维持或破坏它们的机制。 只有这样才会是 可以确定观察到的基因或等位基因关联是否是 真正具有功能性（例如，与疾病相关）或仅仅是以下原因的结果 历史性的种群遗传或进化过程。

Population genetics, molecular evolution, and phylogenetic reconstruction are a continuum of disciplines that provide different perspectives on some of the more interesting questions of human genetic disease, including cancer. Major advances in both the theory and the application of these disciplines are now possible with the exquisitely detailed understanding of human and other genomes that is emerging. Research objectives of this project primarily concern the development and application of demographic, genetic, and phylogenetic analyses. In particular, these modes of analysis are being used to underpin novel gene mapping strategies that range from the identification and localization of disease and disease susceptibility genes to studies mapping the critical functional and disease-related motifs within alleles of the human major histocompatibility complex. These projects are interrelated, and share the common goal of inferring historical patterns of association and the mechanisms that maintain or destroy them. Only then will it be possible to determine whether observed genic or allelic associations are truly functional (e.g., disease related) or simply a consequence of historic population genetic or evolutionary processes.