GENETIC, EVOLUTIONARY, AND PHYLOGENETIC ANALYSIS OF HUMAN ALLELES

人类等位基因的遗传、进化和系统发育分析

• 批准号: 5201542
• 负责人: J C STEPHENS
• 金额: --
• 依托单位: DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/5201542
• 关键词: alleles; analytical method; animal genetic material tag; animal population genetics; biochemical evolution; cytogenetics; genetic mapping; genetic polymorphism; genome; human genetic material tag; human population genetics; major histocompatibility complex; statistics /biometry

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.

群体遗传学、分子进化与系统发育重建 是一个学科的连续体，提供了不同的观点， 一些关于人类遗传疾病的有趣问题， 包括癌症 在理论和应用方面的重大进展 这些学科现在都有可能与精美的详细 对人类和其他基因组的理解正在出现。 研究 该项目的主要目标是发展和 应用人口统计学、遗传学和系统发育分析。 在 特别是，这些分析模式正被用于支持新的基因， 映射策略，从识别和定位 疾病和疾病易感基因的研究， 关键功能和疾病相关的基序内的等位基因的 人主要组织相容性复合体 这些项目是相互关联的， 他们有着共同的目标， 以及维持或破坏它们的机制。 才有 可以确定观察到的基因或等位基因关联是否 真正功能性的（例如，疾病相关）或仅仅是 历史种群遗传或进化过程。