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混合映射作为一种用于复杂人类性状和疾病的基因发现方法。

Admixture mapping as a gene discovery approach for complex human traits and diseases.

作者信息

Nievergelt Caroline M, Schork Nicholas J

机构信息

Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, 2050 Basic Science Building, 9500 Gilman Drive, La Jolla, CA 92093-0603, USA.

出版信息

Curr Hypertens Rep. 2005 Feb;7(1):31-7. doi: 10.1007/s11906-005-0052-x.

Abstract

Admixture mapping (AM) is a special form of conventional meiotic or recombination mapping for disease gene discovery in humans that exploits naturally occurring genetic and phenotypic differences existing in populations between which recent gene flow has occurred. Essentially, mates from two different "parental" populations with different allelic and disease-predisposing mutation profiles will produce "admixed" offspring whose genomes will be mixtures of the genomes associated with the parental populations. Strong linkage disequilibrium (LD) will exist for several generations between neighboring loci of admixed individuals and can be exploited for identifying the genomic location of trait-influencing loci. Although it may be a very clever strategy for identifying genes that influence human traits and diseases, AM can be problematic. We review the foundations, basic strategies, resources, and settings necessary for AM. We conclude that AM has potential in the identification of disease-predisposing loci, but this potential may only exist in a limited number of realistic settings.

摘要

混合映射(AM)是一种用于人类疾病基因发现的传统减数分裂或重组映射的特殊形式,它利用了最近发生基因流动的群体之间自然存在的遗传和表型差异。本质上,来自两个具有不同等位基因和疾病易感突变谱的不同“亲本”群体的配偶将产生“混合”后代,其基因组将是与亲本群体相关的基因组的混合物。混合个体相邻位点之间的强连锁不平衡(LD)将存在几代人,可用于识别影响性状的基因座的基因组位置。尽管这可能是识别影响人类性状和疾病的基因的非常聪明的策略,但AM可能存在问题。我们回顾了AM所需的基础、基本策略、资源和设置。我们得出结论,AM在识别疾病易感基因座方面具有潜力,但这种潜力可能仅存在于有限数量的现实环境中。

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