斯洛伐克12个X-STR标记的群体遗传分析。

IF 1.2 4区 医学 Q2 ANTHROPOLOGY
Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-10-09 DOI:10.1080/03014460.2023.2264769
Zdenko Červenák, Filip Červenák, Andrej Choma, Marián Baldovič, Soňa Masnicová
{"title":"斯洛伐克12个X-STR标记的群体遗传分析。","authors":"Zdenko Červenák,&nbsp;Filip Červenák,&nbsp;Andrej Choma,&nbsp;Marián Baldovič,&nbsp;Soňa Masnicová","doi":"10.1080/03014460.2023.2264769","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> During the last 20 years, X-chromosomal STR markers have become widely used in forensic genetics and paternity testing. Nevertheless, to exploit their full potential in any given population, a reliable reference dataset needs to be established. Since no relevant studies concerning these markers have been performed on the Slovak population so far, we decided to analyse several commonly used markers in this population.<b>Aim:</b> To create an informative set of Slovak population data concerning X-STR markers.<b>Subjects and methods:</b> We genotyped 378 individuals and analysed 12 loci (DXS10148, DX10135, DXS8378, DXS7132, DXS10079, DXS10074, DXS10103, HPRTB, DXS10101, DXS10146, DXS10134 and DXS742) localised in four distinct linkage groups.<b>Results:</b> Our analysis showed that the most informative marker is DXS10135 (PIC = 0,927) and the most informative linkage group (LG) is LG1 with 149 different haplotypes. This analysis also confirmed linkage disequilibrium for two pairs of markers (DX10101-DX10103 and DX10101-HPRTB) within LG3 in female samples. No statistically significant departure from HWE was observed for any locus. Moreover, the interpopulation comparison of 8 European populations based on haplotype frequencies showed no statistically significant F<sub>ST</sub> values in any LG, except for LG2 in comparison with the German population.<b>Conclusion:</b> We created a haplotype database for forensic analyses and kinship testing in Slovakia, as well as the CE dataset which can be used to further increase the decision power in similar analyses in the future.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Population genetic analysis of 12 X-STR markers in Slovakia.\",\"authors\":\"Zdenko Červenák,&nbsp;Filip Červenák,&nbsp;Andrej Choma,&nbsp;Marián Baldovič,&nbsp;Soňa Masnicová\",\"doi\":\"10.1080/03014460.2023.2264769\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Background:</b> During the last 20 years, X-chromosomal STR markers have become widely used in forensic genetics and paternity testing. Nevertheless, to exploit their full potential in any given population, a reliable reference dataset needs to be established. Since no relevant studies concerning these markers have been performed on the Slovak population so far, we decided to analyse several commonly used markers in this population.<b>Aim:</b> To create an informative set of Slovak population data concerning X-STR markers.<b>Subjects and methods:</b> We genotyped 378 individuals and analysed 12 loci (DXS10148, DX10135, DXS8378, DXS7132, DXS10079, DXS10074, DXS10103, HPRTB, DXS10101, DXS10146, DXS10134 and DXS742) localised in four distinct linkage groups.<b>Results:</b> Our analysis showed that the most informative marker is DXS10135 (PIC = 0,927) and the most informative linkage group (LG) is LG1 with 149 different haplotypes. This analysis also confirmed linkage disequilibrium for two pairs of markers (DX10101-DX10103 and DX10101-HPRTB) within LG3 in female samples. No statistically significant departure from HWE was observed for any locus. Moreover, the interpopulation comparison of 8 European populations based on haplotype frequencies showed no statistically significant F<sub>ST</sub> values in any LG, except for LG2 in comparison with the German population.<b>Conclusion:</b> We created a haplotype database for forensic analyses and kinship testing in Slovakia, as well as the CE dataset which can be used to further increase the decision power in similar analyses in the future.</p>\",\"PeriodicalId\":50765,\"journal\":{\"name\":\"Annals of Human Biology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2023-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Human Biology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/03014460.2023.2264769\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/10/9 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"ANTHROPOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Human Biology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/03014460.2023.2264769","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/10/9 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"ANTHROPOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

背景:过去20年 近年来,X染色体STR标记在法医遗传学和亲子鉴定中得到了广泛的应用。然而,为了在任何给定的人群中充分利用它们的潜力,需要建立一个可靠的参考数据集。由于到目前为止还没有对斯洛伐克人群进行有关这些标记的相关研究,我们决定分析该人群中几种常用的标记。目的:建立一套关于X-STR标记的斯洛伐克人群数据。受试者和方法:我们对378个个体进行了基因分型,并分析了定位在四个不同连锁群中的12个位点(DXS10148、DX10135、DXS8378、DXS7132、DXS10079、DXS1007 4、DXS10103、HPRTB、DXS10101、DXS10146、DXS10134和DXS742)。结果:我们的分析表明,信息量最大的标记是DXS10135(PIC=0927),信息量最多的连锁群(LG)是具有149种不同单倍型的LG1。该分析还证实了女性样本中LG3内两对标记物(DX10101-DX10103和DX10101-HPRTB)的连锁不平衡。在任何基因座中均未观察到与HWE有统计学意义的偏离。此外,基于单倍型频率对8个欧洲群体进行的群体间比较显示,除LG2与德国群体相比外,任何LG的FST值均无统计学意义。结论:我们在斯洛伐克创建了一个用于法医分析和亲属关系测试的单倍型数据库,以及CE数据集,该数据集可用于进一步提高未来类似分析的决策能力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Population genetic analysis of 12 X-STR markers in Slovakia.

Background: During the last 20 years, X-chromosomal STR markers have become widely used in forensic genetics and paternity testing. Nevertheless, to exploit their full potential in any given population, a reliable reference dataset needs to be established. Since no relevant studies concerning these markers have been performed on the Slovak population so far, we decided to analyse several commonly used markers in this population.Aim: To create an informative set of Slovak population data concerning X-STR markers.Subjects and methods: We genotyped 378 individuals and analysed 12 loci (DXS10148, DX10135, DXS8378, DXS7132, DXS10079, DXS10074, DXS10103, HPRTB, DXS10101, DXS10146, DXS10134 and DXS742) localised in four distinct linkage groups.Results: Our analysis showed that the most informative marker is DXS10135 (PIC = 0,927) and the most informative linkage group (LG) is LG1 with 149 different haplotypes. This analysis also confirmed linkage disequilibrium for two pairs of markers (DX10101-DX10103 and DX10101-HPRTB) within LG3 in female samples. No statistically significant departure from HWE was observed for any locus. Moreover, the interpopulation comparison of 8 European populations based on haplotype frequencies showed no statistically significant FST values in any LG, except for LG2 in comparison with the German population.Conclusion: We created a haplotype database for forensic analyses and kinship testing in Slovakia, as well as the CE dataset which can be used to further increase the decision power in similar analyses in the future.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
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.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信