• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Human Heredity >Admixture and clinical phenotypic variation
【24h】

Admixture and clinical phenotypic variation

机译：混合物和临床表型变异

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

All human populations exhibit some level of genetic differentiation. This differentiation, or population stratification, has many interacting sources, including historical migrations, population isolation over time, genetic drift, and selection and adaptation. If differentiated populations remained isolated from each other over a long period of time such that there is no mating of individuals between those populations, then some level of global consanguinity within those populations will lead to the formation of gene pools that will become more and more distinct over time. Global genetic differentiation of this sort can lead to overt phenotypic differences between populations if phenotypically relevant variants either arise uniquely within those populations or begin to exhibit frequency differences across the populations. This can occur at the single variant level for monogenic phenotypes or at the level of aggregate variant frequency differences across the many loci that contribute to a phenotype with a multifactorial or polygenic basis. However, if individuals begin to interbreed (or 'admix') from populations with different frequencies of phenotypically relevant genetic variants, then these admixed individuals will exhibit the phenotype to varying degrees. The level of phenotypic expression will depend on the degree to which the admixed individuals have inherited causative variants that have descended from the ancestral population in which those variants were present (or, more likely, simply more frequent). We review studies that consider the association between the degree of admixture (or ancestry) and phenotypes of clinical relevance. We find a great deal of literature-based evidence for associations between the degree of admixture and phenotypic variation for a number of admixed populations and phenotypes, although not all this evidence is confirmatory. We also consider the implications of such associations for gene-mapping initiatives as well as general clinical epidemiology studies and medical practice. We end with some thoughts on the future of studies exploring phenotypic differences among admixed individuals as well as individuals with different ancestral backgrounds.
机译：所有人群都表现出一定程度的遗传分化。这种分化或人口分层具有许多相互影响的来源，包括历史迁徙，随着时间推移的人口隔离，遗传漂移以及选择和适应。如果分化的种群在很长一段时间内彼此隔离，以致这些种群之间没有个体交配，那么这些种群中某种程度的全球血缘关系将导致形成越来越多的基因库随着时间的推移。如果表型相关变体在这些人群中独特出现或开始在人群中表现出频率差异，则这种全球遗传分化可导致人群之间明显的表型差异。这可以在单基因表型的单一变异水平上发生，也可以在多个位点上以多因素或多基因基础促成表型的聚集变异频率差异的水平上发生。但是，如果个体开始从具有不同表型相关遗传变异频率的种群中进行杂交（或“混合”），那么这些混合个体将在不同程度上表现出表型。表型表达的水平将取决于混合个体继承了致病性变体的程度，这些致病性变体起源于存在这些变体的祖先群体（或更可能只是更频繁）。我们审查了考虑混合程度（或祖先）和临床相关表型之间的关联的研究。我们发现许多基于文献的证据表明许多混合人群和表型的混合程度与表型变异之间存在关联，尽管并非所有这些证据都是证实性的。我们还考虑了此类协会对基因映射计划以及一般临床流行病学研究和医学实践的影响。最后，我们对研究混合个体以及具有不同祖先背景的个体之间的表型差异的研究进行了思考。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号