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从西南亚视角通过人类迁徙理解遗传疾病

Understanding inherited disease through human migrations: a south-west Asian perspective.

作者信息

McElreavey K, Quintana-Murci L

机构信息

Reproduction, Fertility and Populations, Institut Pasteur, Paris, France.

出版信息

Community Genet. 2002;5(3):153-6. doi: 10.1159/000066328.

Abstract

Mitochondrial DNA (mtDNA) and the Y chromosome are inherited in a haploid manner and have been used extensively to reconstruct human lineages. mtDNA and the majority of the Y chromosome lack recombination and show high rates of apparently neutral mutation. Here, we demonstrate how detailed analysis of these uniparental inherited markers can reveal general and more subtle population movements within south-west Asia. These include a major migration of modern humans from East Africa to western and southern Asia around 60,000 YBP, migrations of populations from the Fertile Crescent in south-western Iran to India approximately 8,000 YBP, and migrations of Indo-European speakers from Central and West Asia to India approximately 5,000 YBP. We highlight how the understanding of these, and other population movements, can be useful in tracing the dispersal of disease-causing mutant alleles, and how these data could be applied to predicting the segregation of mutant alleles within populations.

摘要

线粒体DNA(mtDNA)和Y染色体以单倍体方式遗传,已被广泛用于重建人类谱系。mtDNA和Y染色体的大部分区域缺乏重组,并且显示出较高的明显中性突变率。在这里,我们展示了对这些单亲遗传标记的详细分析如何揭示西南亚地区一般和更细微的人口迁移情况。这些迁移包括约60000年前现代人类从东非向西亚西部和南部的一次主要迁徙、约8000年前人口从伊朗西南部的新月沃地向印度的迁徙,以及约5000年前印欧语系使用者从中亚和西亚向印度的迁徙。我们强调了对这些以及其他人口迁移的理解如何有助于追踪致病突变等位基因的传播,以及这些数据如何应用于预测群体内突变等位基因的分离情况。

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