Díaz-Zabala Héctor J, Nieves-Colón María A, Martínez-Cruzado Juan C
1 Ponce School of Medicine and Health Sciences, Ponce Health Sciences University, Ponce, Puerto Rico, USA.
2 School of Human Evolution and Social Change, Arizona State University, Tempe, Arizona, USA.
Hum Biol. 2017 Apr;89(2):125-155. doi: 10.13110/humanbiology.89.2.04.
Maternal lineages of West Eurasian and North African origin account for 11.5% of total mitochondrial ancestry in Puerto Rico. Historical sources suggest that this ancestry arrived mostly from European migrations that took place during the four centuries of the Spanish colonization of Puerto Rico. This study analyzed 101 mitochondrial control region sequences and diagnostic coding region variants from a sample set randomly and systematically selected using a census-based sampling frame to be representative of the Puerto Rican population, with the goal of defining West Eurasian-North African maternal clades and estimating their possible geographical origin. Median-joining haplotype networks were constructed using hypervariable regions 1 and 2 sequences from various reference populations in search of shared haplotypes. A posterior probability analysis was performed to estimate the percentage of possible origins across wide geographic regions for the entire sample set and for the most common haplogroups on the island. Principal component analyses were conducted to place the Puerto Rican mtDNA set within the variation present among all reference populations. Our study shows that up to 38% of West Eurasian and North African mitochondrial ancestry in Puerto Rico most likely migrated from the Canary Islands. However, most of those haplotypes had previously migrated to the Canary Islands from elsewhere, and there are substantial contributions from various populations across the circum-Mediterranean region and from West African populations related to the modern Wolof and Serer peoples from Senegal and the nomad Fulani who extend up to Cameroon. In conclusion, the West Eurasian mitochondrial ancestry in Puerto Ricans is geographically diverse. However, haplotype diversity seems to be low, and frequencies have been shaped by population bottlenecks, migration waves, and random genetic drift. Consequently, approximately 47% of mtDNAs of West Eurasian and North African ancestry in Puerto Rico probably arrived early in its colonial history.
源自西欧亚和北非的母系血统占波多黎各线粒体总血统的11.5%。历史资料表明，这种血统主要来自西班牙对波多黎各四个世纪殖民统治期间发生的欧洲移民。本研究分析了101个线粒体控制区序列以及来自一个样本集的诊断编码区变体，该样本集使用基于人口普查的抽样框架进行随机和系统选择，以代表波多黎各人口，目的是确定西欧亚 - 北非母系分支并估计其可能的地理起源。使用来自各种参考人群的高变区1和2序列构建了中位数连接单倍型网络，以寻找共享单倍型。进行了后验概率分析，以估计整个样本集以及该岛上最常见单倍群在广泛地理区域内可能的起源百分比。进行了主成分分析，以将波多黎各线粒体DNA数据集置于所有参考人群的变异范围内。我们的研究表明，波多黎各高达38%的西欧亚和北非线粒体血统很可能从加那利群岛迁移而来。然而，这些单倍型中的大多数此前已从其他地方迁移到加那利群岛，并且来自环地中海地区的各种人群以及与来自塞内加尔的现代沃洛夫族和塞雷尔族以及延伸至喀麦隆的游牧富拉尼族相关的西非人群都有大量贡献。总之，波多黎各人体内的西欧亚线粒体血统在地理上是多样的。然而，单倍型多样性似乎较低，并且频率受到种群瓶颈、移民潮和随机遗传漂变的影响。因此，波多黎各约47%的西欧亚和北非血统的线粒体DNA可能在其殖民历史早期就已到达。
