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突尼斯的基因变异在全球人类多样性背景下的情况。

Genetic variation in Tunisia in the context of human diversity worldwide.

作者信息

Cherni Lotfi, Pakstis Andrew J, Boussetta Sami, Elkamel Sarra, Frigi Sabeh, Khodjet-El-Khil Houssein, Barton Alison, Haigh Eva, Speed William C, Ben Ammar Elgaaied Amel, Kidd Judith R, Kidd Kenneth K

机构信息

Laboratory of Genetics, Immunology and Human Pathology, Science Faculty of Tunis, University of Tunis El Manar, 2092, Tunis, Tunisia.

High Institute of Biotechnology, University of Monastir, Monastir, 5000, Tunisia.

出版信息

Am J Phys Anthropol. 2016 Sep;161(1):62-71. doi: 10.1002/ajpa.23008. Epub 2016 May 18.

Abstract

OBJECTIVES

North Africa has a complex demographic history of migrations from within Africa, Europe, and the Middle East. However, population genetic studies, especially for autosomal genetic markers, are few relative to other world regions. We examined autosomal markers for eight Tunisian and Libyan populations in order to place them in a global context.

MATERIALS AND METHODS

Data were collected by TaqMan on 399 autosomal single nucleotide polymorphisms on 331 individuals from Tunisia and Libya. These data were combined with data on the same SNPs previously typed on 2585 individuals from 57 populations from around the world. Where meaningful, close by SNPs were combined into multiallelic haplotypes. Data were evaluated by clustering, principal components, and population tree analyses. For a subset of 102 SNPs, data from the literature on seven additional North African populations were included in analyses.

RESULTS

Average heterozygosity of the North African populations is high relative to our global samples, consistent with a complex demographic history. The Tunisian and Libyan samples form a discrete cluster in the global and regional views and can be separated from sub-Sahara, Middle East, and Europe. Within Tunisia the Nebeur and Smar are outlier groups. Across North Africa, pervasive East-West geographical patterns were not found.

DISCUSSION

Known historical migrations and invasions did not displace or homogenize the genetic variation in the region but rather enriched it. Even a small region like Tunisia contains considerable genetic diversity. Future studies across North Africa have the potential to increase our understanding of the historical demographic factors influencing the region. Am J Phys Anthropol 161:62-71, 2016. © 2016 The Authors American Journal of Physical Anthropology Published by Wiley Periodicals, Inc.

摘要

目的

北非有着来自非洲内部、欧洲和中东的复杂人口迁移历史。然而,相对于世界其他地区,关于北非的群体遗传学研究,尤其是针对常染色体遗传标记的研究较少。我们检测了8个突尼斯和利比亚群体的常染色体标记,以便将这些群体置于全球背景下进行研究。

材料与方法

通过TaqMan技术收集了来自突尼斯和利比亚的331名个体的399个常染色体单核苷酸多态性数据。这些数据与之前在来自世界各地57个群体的2585名个体中检测的相同单核苷酸多态性数据相结合。在有意义的情况下,将相邻的单核苷酸多态性组合成多等位基因单倍型。通过聚类分析、主成分分析和群体树分析对数据进行评估。对于102个单核苷酸多态性的子集,分析中纳入了来自文献的另外7个北非群体的数据。

结果

相对于我们的全球样本,北非群体的平均杂合度较高,这与复杂的人口历史一致。在全球和区域视角下,突尼斯和利比亚样本形成了一个离散的聚类,并且可以与撒哈拉以南地区、中东和欧洲区分开来。在突尼斯境内,内布尔和斯马尔是异常群体。在整个北非地区,未发现普遍存在的东西部地理模式。

讨论

已知的历史迁移和入侵并没有取代该地区的遗传变异或使其同质化,而是使其更加丰富。即使是像突尼斯这样的小地区也包含相当大的遗传多样性。未来对整个北非地区的研究有可能增进我们对影响该地区的历史人口因素的理解。《美国体质人类学杂志》2016年;161:62 - 71。© 2016作者。《美国体质人类学杂志》由威利期刊公司出版。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3566/5084816/45918f29328b/AJPA-161-62-g001.jpg

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