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巴塞尔巴尔弗斯教堂的女士——通过跨越 22 代的线粒体 DNA 对活体亲属进行分子确认,确定木乃伊的身份。

The Lady from Basel's Barfüsserkirche - Molecular confirmation of the Mummy's identity through mitochondrial DNA of living relatives spanning 22 generations.

机构信息

Institute for Mummy Studies, Eurac Research, Drususallee/Viale Druso 1, 39100 Bozen, Bolzano, Italy; Palaeogenetics Group, Institute of Organismic and Molecular Evolution (iomE), Johannes Gutenberg-University Mainz, Saarstraße 21, 55122 Mainz, Germany.

Institute for Mummy Studies, Eurac Research, Drususallee/Viale Druso 1, 39100 Bozen, Bolzano, Italy.

出版信息

Forensic Sci Int Genet. 2022 Jan;56:102604. doi: 10.1016/j.fsigen.2021.102604. Epub 2021 Oct 9.

Abstract

The identity of the mummified Lady from the Barfüsser Church in Basel, Switzerland has been unsolved for decades, despite the prominent location of the burial place in front of the choir screen. A recent multidisciplinary research approach came up with a possible candidate, Anna Catharina Bischoff who died in Basel in 1787 with an age of 69 years (1719-1787). To verify the identity of the mummy, genealogists of the Citizen Science Basel discovered three living individuals of the maternal lineage of two different family branches, separated from Anna Catharina Bischoff by up to 22 generations. In this study we compare the ancient mitochondrial DNA of the mummy recovered from a premolar to the mitochondrial DNA of these three candidates. Initially the mitochondrial hypervariable regions I and II of the living individuals were screened using the Sanger sequencing method. This was followed by a mitochondrial capture approach and next generation sequencing to enrich for the whole mitochondrial genome of the mummy and one living person. A full mitochondrial genome has been recovered of both individuals sharing an identical haplotype. The sequence was assigned to the mitochondrial haplogroup U5a1+!16192 including two private mutations 10006G and 16293C. Only by using an interdisciplinary approach combining ancient DNA analysis and genealogy a maternal lineage of a non-noble family spanning 22 generations could be confirmed.

摘要

几十年来,瑞士巴塞尔巴尔弗斯教堂木乃伊女士的身份一直未得到解决,尽管其墓地位于唱诗班屏风前位置十分显著。最近,一种多学科的研究方法提出了一个可能的候选人,即安娜·卡塔琳娜·比肖夫(Anna Catharina Bischoff),她于 1787 年在巴塞尔去世,享年 69 岁(1719 年至 1787 年)。为了验证木乃伊的身份,巴塞尔公民科学的系谱学家发现了三个在世个体,她们是两个不同家族分支的母系血统,与安娜·卡塔琳娜·比肖夫(Anna Catharina Bischoff)相隔多达 22 代。在这项研究中,我们将从一颗前磨牙中提取的木乃伊的古老线粒体 DNA 与这三个候选者的线粒体 DNA 进行了比较。最初,使用 Sanger 测序法筛选了三个在世个体的线粒体高变区 I 和 II。接下来,采用线粒体捕获方法和下一代测序技术,富集木乃伊和一个在世个体的整个线粒体基因组。从这两个人体中都成功恢复了完整的线粒体基因组,它们共享相同的单倍型。该序列被分配到线粒体单倍群 U5a1+!16192 中,包括两个私有突变 10006G 和 16293C。只有通过结合古 DNA 分析和系谱学的跨学科方法,才能证实跨越 22 代的非贵族家庭的母系血统。

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