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欧洲人核DNA的临床变异。

Clinal variation in the nuclear DNA of Europeans.

作者信息

Chikhi L, Destro-Bisol G, Pascali V, Baravelli V, Dobosz M, Barbujani G

机构信息

Dipartimento di Biologia, Università di Ferrara, Italy.

出版信息

Hum Biol. 1998 Aug;70(4):643-57.

PMID:9686478
Abstract

Allele frequencies are clinally distributed for many protein polymorphisms in Europe, suggesting that the current populations are derived from an ancestral group that expanded from the Near East. It is not yet fully established whether that expansion took place during the Neolithic or earlier or whether the detectable protein variation faithfully reflects the underlying molecular variation. In this study we address the latter question by describing geographic patterns of genetic diversity at seven highly polymorphic DNA markers. Two of these markers are minisatellites, four are microsatellites, and the seventh is a locus of the HLA system. By analyzing a database of 304 samples, with more than 130,000 chromosomes, we found evidence for a major clinal component of genetic variation. At most loci spatially close populations resemble each other genetically, and the degree of genetic similarity, as measured by spatial autocorrelation statistics, decreases at increasing distances. The observed patterns of molecular variation do not seem to differ qualitatively from those identified for protein polymorphisms. This suggest that low levels of population structuring, described in some mitochondrial DNA studies, may reflect different evolutionary histories for nuclear and maternally inherited markers or, alternatively, that spatial patterns of mitochondrial DNA variation may need more sensitive statistical methods to be recognized.

摘要

在欧洲,许多蛋白质多态性的等位基因频率呈渐变群分布,这表明当前的人群源自一个从近东地区扩张而来的祖先群体。目前尚不完全清楚这种扩张是发生在新石器时代还是更早时期,也不清楚可检测到的蛋白质变异是否如实地反映了潜在的分子变异。在本研究中,我们通过描述七个高度多态性DNA标记的遗传多样性地理模式来解决后一个问题。其中两个标记是微卫星,四个是小卫星,第七个是HLA系统的一个位点。通过分析一个包含304个样本、超过13万条染色体的数据库,我们发现了遗传变异主要渐变群成分的证据。在大多数位点上,空间距离相近的群体在遗传上彼此相似,并且通过空间自相关统计测量的遗传相似程度随着距离增加而降低。观察到的分子变异模式在性质上似乎与蛋白质多态性所确定的模式没有差异。这表明一些线粒体DNA研究中描述的低水平群体结构,可能反映了核基因和母系遗传标记不同的进化历史,或者说,线粒体DNA变异的空间模式可能需要更灵敏的统计方法才能识别出来。

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