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Mitochondrial DNA genetic diversity and LCT-13910 and deltaF508 CFTR alleles typing in the medieval sample from Poland

机译：波兰中世纪样品中线粒体DNA遗传多样性以及LCT-13910和deltaF508 CFTR等位基因的分型

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摘要

We attempted to confirm the resemblance of a local medieval population and to reconstruct their contribution to the formation of the modern Polish population at the DNA level. The HVR I mtDNA sequence and two nuclear alleles, LCT-13910C/T SNP and deltaF508 CFTR, were chosen as markers since the distribution of selected nuclear alleles varies among ethnic groups. A total of 47 specimens were selected from a medieval cemetery in Cedynia (located in the western Polish lowland). Regarding the HVR I profile, the analyzed population differed from the present-day population (P = 0.045, Fst = 0.0103), in contrast to lactase persistence (LP) based on the LCT-13910T allele, thus indicating the lack of notable frequency changes of this allele during the last millennium (P=0.141). The sequence of the HVR I mtDNA fragment allowed to identify six major haplogroups including H, U5, T, K, and HVO within the medieval population of Cedynia which are common in today's central Europe. An analysis of haplogroup frequency and its comparison with modern European populations shows that the studied medieval population is more closely related to Finno-Ugric populations than to the present Polish population. Identification of less common haplogroups, i.e., Z and U2, both atypical of the modern Polish population and of Asian origin, provides evidence for some kind of connections between the studied and foreign populations. Furthermore, a comparison of the available aDNA sequences from medieval Europe suggests that populations differed from one another and a number of data from other locations are required to find out more about the features of the medieval gene pool profile. (C) 2015 Elsevier GmbH. All rights reserved.
机译：我们试图确认当地中世纪人口的相似性，并在DNA水平上重建他们对现代波兰人口形成的贡献。选择HVR I mtDNA序列和两个核对等位基因LCT-13910C / T SNP和deltaF508 CFTR作为标记，因为所选核对等位基因的分布在不同种族之间有所不同。从位于Cedynia的中世纪公墓（位于波兰西部低地）中总共选择了47个标本。关于HVR I谱，与基于LCT-13910T等位基因的乳糖酶持久性（LP）相比，所分析的人群与当前人群有所不同（P = 0.045，Fst = 0.0103），因此表明缺乏明显的频率变化最近一个千年中该等位基因的表达（P = 0.141）。 HVR I mtDNA片段的序列可以鉴定六种主要的单倍群，包括中世纪的Cedynia种群中的H，U5，T，K和HVO，这在当今的中欧很常见。对单倍群频率的分析及其与现代欧洲人口的比较表明，所研究的中世纪人口与芬兰-乌格里人的人口比与当前波兰人的人口更紧密相关。识别不太常见的单倍群，即Z和U2，它们既是现代波兰人口又是亚洲血统的非典型人，为研究的人口与外国人口之间的某种联系提供了证据。此外，对来自中世纪欧洲的可用aDNA序列的比较表明，种群之间互不相同，需要更多其他位置的数据才能了解有关中世纪基因库谱的更多信息。 （C）2015 Elsevier GmbH。版权所有。

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  • 来源
    《HOMO》 |2015年第3期|229-250|共22页
  • 作者

    Ploszaj T.; Jerszynska B.; Jedrychowska-Danska K.; Lewandowska M.; Kubiak D.; Grzywnowicz K.; Maslowska A.; Witas H. W.;

  • 作者单位

    Med Univ Lodz, Dept Mol Biol, PL-90136 Lodz, Poland;

    Adam Mickiewicz Univ, Dept Human Evolutionary Biol, PL-61614 Poznan, Poland;

    Med Univ Lodz, Dept Mol Biol, PL-90136 Lodz, Poland;

    Med Univ Lodz, Dept Mol Biol, PL-90136 Lodz, Poland;

    Med Univ Lodz, Dept Mol Biol, PL-90136 Lodz, Poland;

    Med Univ Lodz, Dept Mol Biol, PL-90136 Lodz, Poland;

    Med Univ Lodz, Dept Mol Biol, PL-90136 Lodz, Poland;

    Med Univ Lodz, Dept Mol Biol, PL-90136 Lodz, Poland;

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