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通过完整线粒体DNA序列解析地中海北非人群的遗传图谱。

The genetic landscape of Mediterranean North African populations through complete mtDNA sequences.

作者信息

Font-Porterias Neus, Solé-Morata Neus, Serra-Vidal Gerard, Bekada Asmahan, Fadhlaoui-Zid Karima, Zalloua Pierre, Calafell Francesc, Comas David

机构信息

a Departament de Ciències Experimentals i de la Salut, Institute of Evolutionary Biology (CSIC-UPF) , Universitat Pompeu Fabra , Barcelona , Spain.

b Département de Biotechnologie, Faculté des Sciences de la Nature et de la Vie , Université Oran 1 (Ahmad Ben Bella) , Oran , Algeria.

出版信息

Ann Hum Biol. 2018 Feb;45(1):98-104. doi: 10.1080/03014460.2017.1413133.

DOI:10.1080/03014460.2017.1413133
PMID:29382280
Abstract

BACKGROUND

The genetic composition of human North African populations is an amalgam of different ancestral components coming from the Middle East, Europe, south-Saharan Africa and autochthonous to North Africa. This complex genetic pattern is the result of migrations and admixtures in the region since Palaeolithic times.

AIMS

The objective of the present study is to refine knowledge of the population history of North African populations through the analysis of complete mitochondrial sequences.

SUBJECTS AND METHODS

This study has sequenced complete mitochondrial DNAs (mtDNAs) in several North African and neighbouring individuals.

RESULTS

The mtDNA haplogroup classification and phylogeny shows a high genetic diversity in the region as a result of continuous admixture. The phylogenetic analysis allowed us to identify a new haplogroup characterised by positions 10 101 C and 146 C (H1v2), a sub-branch of H1v, which is restricted to North Africa and whose origins are estimated as ∼4000 years ago.

CONCLUSIONS

The analysis of the complete mtDNA genome has allowed for the identification of a North African sub-lineage that might be ignored by the analysis of partial mtDNA control region sequences, highlighting the phylogeographic relevance of mtDNA complete sequence analysis.

摘要

背景

北非人群的基因构成是来自中东、欧洲、撒哈拉以南非洲以及北非本土的不同祖先成分的混合体。这种复杂的基因模式是自旧石器时代以来该地区人口迁移和混合的结果。

目的

本研究的目的是通过对完整线粒体序列的分析,深化对北非人群历史的认识。

对象与方法

本研究对若干北非及周边个体的完整线粒体DNA(mtDNA)进行了测序。

结果

mtDNA单倍群分类和系统发育显示,由于持续的混合,该地区具有高度的遗传多样性。系统发育分析使我们能够识别出一个新的单倍群,其特征为位置10101C和146C(H1v2),它是H1v的一个分支,仅存在于北非,其起源估计约在4000年前。

结论

对完整mtDNA基因组的分析能够识别出一个北非亚谱系,而部分mtDNA控制区序列分析可能会忽略该谱系,这突出了mtDNA完整序列分析在系统地理学上的重要性。

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