突尼斯的 Msaken:通过 Y 染色体 DNA 分析确认的共同父系祖先

Kamel AL-Gazzah
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摘要

据说,公元 1360 年左右,从西亚迁徙而来的五个有血缘关系的人建立了突尼斯的姆萨肯城。随着这些始祖的后裔以及来自突尼斯不同地区的其他人群的到来,该城的人口也在不断增长。为了阐明始祖人群的 TMRCA 并揭示其地理起源,我们利用商业公司的服务,采用 NG 检测技术对来自 Msaken 不同家族的 23 名男性进行了 12 至 440 个 Y 染色体短串联重复序列(STR)和单核苷酸多态性(SNP)标记的检测。对 8 个样本进行了 SNP 基因分型,以确定其单系群。为了完善系统发育,对一个样本的 Y Chr 中的 300,000 bp 进行了传统的 Sanger 测试(在 Walk Through the Y chromosome 项目中)。此外,还使用 NGS 仪器 HiSeq 2000 和 2500 对 7 个样本进行了下一代检测(BigY),检测范围覆盖 Y 染色体的 2000 万 bp,与黄金标准区域(YCC 在系统发生树上的 Y 染色体位置)的 85% 重叠。利用 SQL 脚本和数据挖掘工具将 STR 结果与不同来源和数据库的数据进行比较,以找到匹配的单倍型。所有 STR 结果显示,每 12 个标记不超过 3 个错配,每 67 个标记不超过 6 个错配;SNP 结果显示,所有受测样本均属于其亚群 J-L24 中的单倍群 J-M172。根据共同的 STR 标记值,我们定义了一个 Msaken 单倍型。通过对我们的样本以及添加到 yfull.com 树中的样本进行 NG 测试,我们完善了 J-L24 的系统发育,发现所有样本都属于 J-L271 单倍群,共享 54 个独有的 SNPs。根据 NG 测试计算出的最近共同祖先时间(TMRCA)在 1500 至 6200 YBP 之间,显示出 5400 YBP 附近存在一个强大的瓶颈。收集到的结果显示,J-L192 的地理根源在东安纳托利亚、今天的亚美尼亚、阿塞拜疆和西伊朗。属于 J-M172 (J2) 单倍群的突尼斯随机 STR 单倍型中有 20% 至 30% 表现出 Msaken 单倍型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Msaken, Tunisia: A Common Paternal Ancestor Confirmed by Y Chromosome DNA Analysis
Msaken City (Tunisia) is believed to have been founded around 1360 AD by five related men who migrated from West Asia. The population would have grown with the descendants of these founders and with the arrival of other populations from different regions of Tunisia. In order to elucidate the TMRCA of the founder population and to reveal their geographic origin, 23 males from different families of Msaken were examined, using the services of commercial companies, for 12 to 440 Y chromosome Short Tandem Repeats (STR) and Single Nucleotide Polymorphisms (SNP) markers using NG testing technology. Eight samples were genotyped for SNPs to determine their Haplogroups. In order to refine the phylogeny, traditional Sanger testing was performed on one sample for 300,000 bp in Y Chr (in Walk Through the Y chromosome project). Seven samples were also tested using Next Generation Testing (BigY) covering 20 million bp of Y chromosome overlapping 85% of Gold standard region (chromosome Y positions placed on the phylogenetic tree by the YCC) using NGS instruments, HiSeq 2000 and 2500. A comparison of STR results with data from different sources and databases was made, using SQL scripts and data mining tools, to find matching haplotypes. All the STR results were found to have no more than three mismatches per 12 markers and not more than six mismatches per 67 markers and the SNP results showed that all tested samples belonged to Haplogroup J-M172 inside its subgroup J-L24. Relying on the common STR marker values, we define a Msaken-Haplotype. NG tests for our samples as well as those added to the yfull.com tree allowed us to refine the phylogeny of J-L24 and the samples were all found to belong to J-L271 Haplogroup and share 54 exclusive SNPs. The calculated Time to Most Recent Common Ancestor (TMRCA) based on NG testing, ranges between1500 and 6200 YBP showing a strong bottleneck around 5400 YBP. The variation of the collected results shows a geographic root of J-L192 in East Anatolia, present day Armenia, Azerbaijan, and West Iran. 20 to 30% of random Tunisian STR haplotypes belonging to J-M172 (J2) Haplogroup exhibit the Msaken-Haplotype.
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