山东青岛汉族人群41个y - str的系统发育分析及基于机器学习的单倍群预测

IF 1.2 4区 医学 Q2 ANTHROPOLOGY Annals of Human Biology Pub Date : 2023-02-01 DOI:10.1080/03014460.2023.2168057
Guang-Yao Fan, De-Zhi Jiang, Yao-Heng Jiang, Wei Song, Ying-Yun He, Nixon Austin Wuo
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引用次数: 1

摘要

背景:青岛以其丰富的历史文化而闻名,是中国海洋文化的典型象征。其独特的遗传景观引起了遗传学家和法医科学家的兴趣。然而,青岛的遗传景观从未被揭示。目的:本研究旨在揭示青岛人父系遗传多样性及其与其他汉族亚群的进化联系。对象和方法:采用SureID®PathFinder Plus试剂盒对青岛汉族人群的41个y染色体短串联重复(STR)位点进行遗传多态性分析。利用52个东亚群体23个常见Y-STR基因座的基因型数据进行系统发育研究。构建了多维标度图和梯形图。采用线性判别分析(LDA)对汉族人群进行分类预测。利用k近邻(kNN)算法为每个单倍型指定Y-SNP单倍群。结果:青岛汉人与藏缅人群遗传距离较远,与中国北方汉人遗传距离较近。LDA标志着现代汉人之间的深度融合。通过kNN模型,预测的O2a2和O2a1是主要的Y-SNP单倍群。结论:本研究有助于重建中国父系史,建立更全面的Y-STR数据库。
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Phylogenetic analyses of 41 Y-STRs and machine learning-based haplogroup prediction in the Qingdao Han population from Shandong province, Eastern China.

Background: Known for its rich history and culture, Qingdao is a typical symbol of Chinese maritime culture. Its unique genetic landscape has aroused interest among geneticists and forensic scientists. However, the genetic landscape of Qingdao has never been uncovered.

Aim: This investigation intends to provide light on Qingdao's paternal genetic diversity and its evolutionary connections to other Han subgroups.

Subjects and methods: The genetic polymorphisms of 41 Y-chromosomal short tandem repeat (STR) loci in the Qingdao Han were investigated using SureID® PathFinder Plus Kit. Phylogenetic studies were performed using genotype data from 52 East Asian groups at 23 common Y-STR loci. A multidimensional scaling plot and cladogram were constructed. Linear Discriminant Analysis (LDA) was carried out for predicting categories among the Han people. The k-nearest neighbour (kNN) algorithm was utilised to designate Y-SNP haplogroups for each haplotype.

Results: The Qingdao Han were genetically far from the Tibeto-Burman populations and close with the Han people from northern China. LDA indicated a deep integration among the present-day Han people. By the kNN model, the predicted O2a2 and O2a1 were shown to be the predominant Y-SNP haplogroups.

Conclusions: This study would be helpful for reconstructing the patrilineal history in China and establishing a more comprehensive Y-STR database.

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来源期刊
Annals of Human Biology
Annals of Human Biology 生物-公共卫生、环境卫生与职业卫生
CiteScore
3.40
自引率
5.90%
发文量
46
审稿时长
1 months
期刊介绍: Annals of Human Biology is an international, peer-reviewed journal published six times a year in electronic format. The journal reports investigations on the nature, development and causes of human variation, embracing the disciplines of human growth and development, human genetics, physical and biological anthropology, demography, environmental physiology, ecology, epidemiology and global health and ageing research.
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