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通过对线粒体DNA和Y染色体多态性的分析揭示挪威人群中的不同遗传成分。

Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms.

作者信息

Passarino Giuseppe, Cavalleri Gianpiero L, Lin Alice A, Cavalli-Sforza Luigi Luca, Børresen-Dale Anne-Lise, Underhill Peter A

机构信息

Dipartimento di Biologia Cellulare, Università della Calabria, Ponte Pietro Bucci c/da Arcavacata, 87030 Rende, Italy.

出版信息

Eur J Hum Genet. 2002 Sep;10(9):521-9. doi: 10.1038/sj.ejhg.5200834.

Abstract

The genetic composition of the Norwegian population was investigated by analysing polymorphisms associated with both the mitochondrial DNA (mtDNA) and Y chromosome loci in a sample of 74 Norwegian males. The combination of their uniparental mode of inheritance and the absence of recombination make these haplotypic stretches of DNA the tools of choice in evaluating the different components of a population's gene pool. The sequencing of the Dloop and two diagnostic RFLPs (AluI 7025 and HinfI at 12 308) allowed us to classify the mtDNA molecules in 10 previously described groups. As for the Y chromosome the combination of binary markers and microsatellites allowed us to compare our results to those obtained elsewhere in Europe. Both mtDNA and Y chromosome polymorphisms showed a noticeable genetic affinity between Norwegians and central Europeans, especially Germans. When the phylogeographic analysis of the Y chromosome haplotypes was attempted some interesting clues on the peopling of Norway emerged. Although Y chromosome binary and microsatellite data indicate that 80% of the haplotypes are closely related to Central and western Europeans, the remainder share a unique binary marker (M17) common in eastern Europeans with informative microsatellite haplotypes suggesting a different demographic history. Other minor genetic influences on the Norwegian population from Uralic speakers and Mediterranean populations were also highlighted.

摘要

通过分析74名挪威男性样本中线粒体DNA(mtDNA)和Y染色体位点相关的多态性,对挪威人群的基因组成进行了研究。它们单亲遗传模式与缺乏重组的特点相结合,使得这些单倍型DNA片段成为评估人群基因库不同组成部分的首选工具。对D环以及两个诊断性限制性片段长度多态性(AluI 7025和位于12308处的HinfI)进行测序,使我们能够将mtDNA分子分类为10个先前描述的组。至于Y染色体,二元标记和微卫星的组合使我们能够将我们的结果与在欧洲其他地方获得的结果进行比较。mtDNA和Y染色体多态性均显示挪威人与中欧人,尤其是德国人之间存在明显的遗传亲和力。当尝试对Y染色体单倍型进行系统地理学分析时,出现了一些关于挪威人口构成的有趣线索。尽管Y染色体二元和微卫星数据表明80%的单倍型与中欧和西欧人密切相关,但其余部分共享东欧人中常见的一个独特二元标记(M17)以及信息丰富的微卫星单倍型,这表明存在不同的人口历史。挪威人群受到乌拉尔语系使用者和地中海人群的其他轻微遗传影响也得到了突出体现。

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