EVOLUTION AND GLOBAL DISTRIBUTION OF HALOTYPES

盐型的演化和全球分布

• 批准号: 6582377
• 负责人: JUDITH R KIDD
• 金额: $ 15.83万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-04-01 至 2003-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6582377
• 关键词: African; African American; European; Hispanic Americans; Native Americans; North America; Pongidae; South American; alleles; animal genetic material tag; biochemical evolution; gene expression; gene frequency; gene mutation; genetic markers; genotype; human genetic material tag; human population genetics; linkage disequilibriums; polymerase chain reaction; restriction fragment length polymorphism; restriction mapping; single nucleotide polymorphism

During the past several years linkage disequilibrium has become increasingly used as a tool in cloning disease genes, fine mapping of loci, prenatal diagnosis, disease association studies, and studies of population relationships and divergence. Yet little is known about the distribution and intensity of disequilibrium either across the genome, within a population, or across populations for a particular locus. This project will collect haplotype data and measure disequilibrium for 400 locus-population combinations--at 200 multisite loci distributed across the genome in 20 populations from around the world in order to investigate (in conjunction with Project 4 and the Scientific Core) some of the population-specific factors (effective population size, admixture, etc.) and locus-specific factors (genomic location (telomere, centromere, mid-arm) and mutation type (single base changes, short tandem repeat)) that affect linkage disequilibrium. Haplotypes at each locus will consist of at least three physically mapped polymorphisms, usually with one short tandem repeat polymorphism and two or more single nucleotide polymorphisms. Knowledge of the ancestral and derived states of the SNPs (from studies of other primates) will help define the evolutionary histories of the SNP-based haplotypes. Inclusion of the STRPs within these frameworks of SNPs will provide data informative for relative mutation rate studies. They systematic effects of recombination are deliberately minimized in this project by limiting the molecular length of the haplotypes examined to about 30 kb; the effects of population history and locus will thus be spot-lighted.

在过去的几年中，连锁不平衡已成为 越来越多地用作克隆疾病基因的工具， 基因座，产前诊断，疾病协会研究和研究 人口关系和分歧。然而，关于 在整个基因组中，不平衡的分布和强度， 在人群中或特定基因座的人群中。 该项目将收集单倍型数据并测量 400个基因座的组合 - 在200个多站点基因座分布 遍及世界各地20个人群的基因组 调查（与项目4和科学核心结合）一些 人口特异性因素（有效的人口规模，混合， 等）和基因座特异性因素（基因组位置（Telomere，Centromere， 中臂）和突变类型（单碱基变化，短串联重复）） 影响连锁不平衡。每个基因座的单倍型将组成 至少三个物理映射的多态性，通常有一个短 串联重复多态性和两个或多个单核苷酸 多态性。了解SNP的祖先和派生状态 （来自其他灵长类动物的研究）将有助于定义进化 基于SNP的单倍型的历史。将str包含在其中 SNP的框架将为相对突变提供数据信息 费率研究。它们是故意重组的系统效应 通过限制该项目的分子长度来最小化 检查约30 kb的单倍型；人口历史和 因此，基因座将被点亮。