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父系和母系DNA谱系揭示了芬兰人口奠基时的瓶颈效应。

Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.

作者信息

Sajantila A, Salem A H, Savolainen P, Bauer K, Gierig C, Pääbo S

机构信息

Zoological Institute, University of Munich, Germany.

出版信息

Proc Natl Acad Sci U S A. 1996 Oct 15;93(21):12035-9. doi: 10.1073/pnas.93.21.12035.

DOI:10.1073/pnas.93.21.12035
PMID:8876258
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC38178/
Abstract

An analysis of Y-chromosomal haplotypes in several European populations reveals an almost monomorphic pattern in the Finns, whereas Y-chromosomal diversity is significantly higher in other populations. Furthermore, analyses of nucleotide positions in the mitochondrial control region that evolve slowly show a decrease in genetic diversity in Finns. Thus, relatively few men and women have contributed the genetic lineages that today survive in the Finnish population. This is likely to have caused the so-called "Finnish disease heritage"-i.e., the occurrence of several genetic diseases in the Finnish population that are rare elsewhere. A preliminary analysis of the mitochondrial mutations that have accumulated subsequent to the bottleneck suggests that it occurred about 4000 years ago, presumably when populations using agriculture and animal husbandry arrived in Finland.

摘要

对几个欧洲人群的Y染色体单倍型分析显示,芬兰人的Y染色体模式几乎是单态的,而其他人群的Y染色体多样性则显著更高。此外,对线粒体控制区中进化缓慢的核苷酸位置的分析表明,芬兰人的遗传多样性有所下降。因此,在当今芬兰人群中存活下来的遗传谱系,其贡献者中男性和女性相对较少。这很可能导致了所谓的“芬兰疾病遗产”,即在芬兰人群中出现了几种在其他地方罕见的遗传疾病。对瓶颈效应之后积累的线粒体突变的初步分析表明,瓶颈效应大约发生在4000年前,大概是在使用农业和畜牧业的人群抵达芬兰的时候。

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本文引用的文献

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Messages from an isolate: lessons from the Finnish gene pool.一个分离株的信息:来自芬兰基因库的经验教训。
Biol Chem Hoppe Seyler. 1995 Dec;376(12):697-704. doi: 10.1515/bchm3.1995.376.12.697.
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Genes and languages in Europe: an analysis of mitochondrial lineages.欧洲的基因与语言:线粒体谱系分析
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The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.人类突变的时代:芬兰人群中CLN5突变的系谱和连锁不平衡分析
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Am J Biol Anthropol. 2023 Feb;180(2):298-315. doi: 10.1002/ajpa.24666. Epub 2022 Nov 23.
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Blood donor biobank and HLA imputation as a resource for HLA homozygous cells for therapeutic and research use.血液捐献者生物库和 HLA 推测可作为用于治疗和研究目的的 HLA 纯合子细胞的资源。
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BMC Genomics. 2022 May 7;23(1):354. doi: 10.1186/s12864-022-08572-y.
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Increasing accuracy of HLA imputation by a population-specific reference panel in a FinnGen biobank cohort.在芬兰基因库队列中,通过特定人群参考面板提高HLA基因分型的准确性。
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Human mitochondrial DNA lineages in Iron-Age Fennoscandia suggest incipient admixture and eastern introduction of farming-related maternal ancestry.在铁器时代的芬诺斯堪的亚发现的人类线粒体 DNA 谱系表明,与农业相关的母系祖先存在早期混合和来自东方的传入。
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