Department of Molecular and Human Genetics, College of Medicine, Florida International University, Miami, 33199, USA.
Am J Phys Anthropol. 2012 Aug;148(4):618-31. doi: 10.1002/ajpa.22090. Epub 2012 May 11.
Although previous studies have characterized the genetic structure of populations from Haiti and Jamaica using classical and autosomal STR polymorphisms, the patrilineal influences that are present in these countries have yet to be explored. To address this lacuna, the current study aims to investigate, for the first time, the potential impact of different ancestral sources, unique colonial histories, and distinct family structures on the paternal profile of both groups. According to previous reports examining populations from the Americas, island-specific demographic histories can greatly impact population structure, including various patterns of sex-biased gene flow. Also, given the contrasting autosomal profiles provided in our earlier study (Simms et al.: Am J Phys Anthropol 142 (2010) 49-66), we hypothesize that the degree and directionality of gene flow from Europeans, Africans, Amerindians, and East Asians are dissimilar in the two countries. To test this premise, 177 high-resolution Y-chromosome binary markers and 17 Y-STR loci were typed in Haiti (n = 123) and Jamaica (n = 159) and subsequently utilized for phylogenetic comparisons to available reference collections encompassing Africa, Europe, Asia (East and South), and the New World. Our results reveal that both studied populations exhibit a predominantly South-Saharan paternal component, with haplogroups A1b-V152, A3-M32, B2-M182, E1a-M33, E1b1a-M2, E2b-M98, and R1b2-V88 comprising 77.2% and 66.7% of the Haitian and Jamaican paternal gene pools, respectively. Yet, European derived chromosomes (i.e., haplogroups G2a*-P15, I-M258, R1b1b-M269, and T-M184) were detected at commensurate levels in Haiti (20.3%) and Jamaica (18.9%), whereas Y-haplogroups indicative of Chinese [O-M175 (3.8%)] and Indian [H-M69 (0.6%) and L-M20 (0.6%)] ancestry were restricted to Jamaica.
尽管先前的研究已经使用经典和常染色体 STR 多态性对海地和牙买加的人群遗传结构进行了描述,但这些国家的父系影响尚未得到探索。为了解决这一空白,本研究首次旨在探讨不同的祖先来源、独特的殖民历史和不同的家庭结构对这两个群体的父系谱的潜在影响。根据先前研究美洲人群的报告,岛屿特有的人口历史可以极大地影响人口结构,包括各种性别偏向的基因流动模式。此外,鉴于我们之前的研究提供了截然不同的常染色体图谱(Simms 等人:Am J Phys Anthropol 142 (2010) 49-66),我们假设来自欧洲、非洲、美洲印第安人和东亚的基因流动的程度和方向性在这两个国家是不同的。为了检验这一前提,在海地(n = 123)和牙买加(n = 159)中对 177 个高分辨率 Y 染色体双等位基因标记和 17 个 Y-STR 基因座进行了分型,并随后用于与涵盖非洲、欧洲、亚洲(东亚和南亚)和新世界的可用参考数据集进行系统发育比较。我们的研究结果表明,两个研究人群都表现出主要的南撒哈拉父系成分,A1b-V152、A3-M32、B2-M182、E1a-M33、E1b1a-M2、E2b-M98 和 R1b2-V88 单倍群分别占海地和牙买加父系基因库的 77.2%和 66.7%。然而,在海地(20.3%)和牙买加(18.9%)中都检测到欧洲衍生染色体(即,单倍群 G2a*-P15、I-M258、R1b1b-M269 和 T-M184),而表明中国血统的 Y-单倍群[O-M175(3.8%)]和印度血统的[H-M69(0.6%)和 L-M20(0.6%)]仅局限于牙买加。