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中国东部山东省青岛汉族人群 41 个 Y-STR 的系统进化分析及基于机器学习的单倍型预测。

Phylogenetic analyses of 41 Y-STRs and machine learning-based haplogroup prediction in the Qingdao Han population from Shandong province, Eastern China.

机构信息

Forensic Center, College of Medicine, Shaoxing University, Shaoxing, China.

Criminal Technology Department, Qingdao Public Security Bureau, Shandong, China.

出版信息

Ann Hum Biol. 2023 Feb;50(1):35-41. doi: 10.1080/03014460.2023.2168057.

DOI:10.1080/03014460.2023.2168057
PMID:36636009
Abstract

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.

摘要

背景

青岛以其丰富的历史和文化而闻名,是中国海洋文化的典型代表。其独特的遗传景观引起了遗传学家和法医学家的兴趣。然而,青岛的遗传景观从未被揭示过。

目的

本研究旨在揭示青岛人群的父系遗传多样性及其与其他汉族亚群的进化关系。

受试者和方法

使用 SureIDPathFinderPlusKit 对 41 个 Y 染色体短串联重复(STR)基因座的遗传多态性进行了研究。在 23 个常见 Y-STR 基因座的 52 个东亚群体的基因型数据上进行了系统发育研究。构建了多维尺度图和系统发育树。利用线性判别分析(LDA)对汉族人群进行分类预测。利用 k-最近邻(kNN)算法为每个单倍型指定 Y-SNP 单倍群。

结果

青岛汉族人群在遗传上与藏族人群相距甚远,与中国北方的汉族人群关系密切。LDA 表明,现代汉族人群深度融合。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的父系历史,建立更全面的 Y-STR 数据库。

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