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立陶宛人口同质性估计数学方法的比较分析

A comparative analysis of mathematical methods for homogeneity estimation of the Lithuanian population.

作者信息

Molytė Alma, Urnikytė Alina, Kučinskas Vaidutis

机构信息

Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

Department of Information Systems, Faculty of Fundamentals Sciences, Vilnius Gediminas Technical University, Vilnius, Lithuania.

出版信息

Acta Med Litu. 2019;26(4):211-216. doi: 10.6001/actamedica.v26i4.4206.

Abstract

BACKGROUND

Population genetic structure is one of the most important population genetic parameters revealing its demographic features. The aim of this study was to evaluate the homogeneity of the  Lithuanian population on the  basis of the  genome-wide genotyping data. The comparative analysis of three methods - multidimensional scaling, principal components, and principal coordinates analysis - to visualize multidimensional genetics data was performed. The results of visualization (mapping images) are also presented.

MATERIALS AND METHODS

The  data set consisted of 425 samples from six ethnolinguistic groups of the Lithuanian population. Genomic DNA was extracted from whole venous blood using either the phenol-chloroform extraction method or the automated DNA extraction platform TECAN Freedom EVO. Genotyping was performed at the Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Lithuania, with the Illumina HumanOmniExpress-12 v1.1 and the Infinium OmniExpress-24. For the estimation of homogeneity of the Lithuanian population, PLINK data file was obtained using PLINK v1.07 program. The  Past3 software was used to visualize the genotype data with multidimensional scaling and principal coordinates methods. The  SmartPCA from EIGENSOFT 7.2.1 program was used in the principal component analysis to determine the population structure.

CONCLUSIONS

Methods of multidimensional scaling, principal coordinate, and principal component for the genetic structure of the  Lithuanian population were investigated and compared. The principal coordinate and principal component methods can be used for genotyping data visualization, since any essential differences in the results obtained were not observed and compared to multidimensional scaling. The  Lithuanian population is homogenous whereas the points are strongly close when we use the principal coordinates or principal component methods.

摘要

背景

群体遗传结构是揭示其人口统计学特征的最重要的群体遗传参数之一。本研究的目的是基于全基因组基因分型数据评估立陶宛人群的同质性。对多维缩放、主成分分析和主坐标分析这三种用于可视化多维遗传数据的方法进行了比较分析。还展示了可视化结果(映射图像)。

材料与方法

数据集由来自立陶宛人群六个民族语言群体的425个样本组成。使用酚 - 氯仿提取法或自动化DNA提取平台TECAN Freedom EVO从全静脉血中提取基因组DNA。基因分型在立陶宛维尔纽斯大学医学院生物医学科学研究所人类与医学遗传学系进行,使用Illumina HumanOmniExpress - 12 v1.1和Infinium OmniExpress - 24。为了评估立陶宛人群的同质性,使用PLINK v1.07程序获得PLINK数据文件。使用Past3软件通过多维缩放和主坐标方法可视化基因型数据。使用EIGENSOFT 7.2.1程序中的SmartPCA进行主成分分析以确定群体结构。

结论

对立陶宛人群遗传结构的多维缩放、主坐标和主成分方法进行了研究和比较。主坐标和主成分方法可用于基因分型数据可视化,因为未观察到所得结果与多维缩放相比有任何本质差异。立陶宛人群是同质的,当我们使用主坐标或主成分方法时,各点紧密靠近。

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