基于染色体遗传共享区域物理长度的亲属关系确定新方法。

IF 1.6 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Genes & genomics Pub Date : 2024-05-01 Epub Date: 2024-01-05 DOI:10.1007/s13258-023-01485-4
Sohee Cho, Eunsoon Shin, Yoon Gi Park, Seung Ho Choi, Eun Kyung Choe, Jung Ho Bae, Jong-Eun Lee, Soong Deok Lee
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引用次数: 0

摘要

背景:确定个体间的遗传亲缘关系在解决众多涉及家族关系的民事案件和有关失踪人员的法医调查中起着至关重要的作用。短串联重复序列(STR)以其高度的 DNA 多态性而著称,传统上一直是基因检测中 DNA 标记的主要选择,但其在亲属关系检测中的应用仅限于涉及近亲关系的案件。SNP 已成为确定亲属关系的有前途的补充标记。然而,利用 SNPs 区分三代或更远的亲属(如嫡亲)仍是一项挑战:利用高密度 SNP 数据研究远亲关系的亲缘关系分析方法:本研究使用 Affymetrix Axiom KORV1.0-96 阵列获得了 337 个韩国家庭的高密度 SNP 数据。按照染色体位置对 SNP 进行了排列,确定了同源性(IBS),然后调查了 IBS 为 1 或 2 的连续 SNP 的共享区域。测量这些IBS片段的物理长度,并将其相加创建一个指数,作为亲缘关系的衡量标准:结果:亲缘关系是根据每个亲缘关系所区分的共享染色体区域的物理长度确定的。使用这种方法,可以区分出四等亲以内的关系,并将非亲属与真正的亲属明确区分开来。我们还发现,无论 SNP 基因分型的芯片平台和人群如何,这种方法都有可能被普遍使用:结论:这一方法具有确定个体间不同亲缘关系和区分非亲属与真正亲属的潜力,对亲缘关系确定的实际应用有很大帮助。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

A novel approach of kinship determination based on the physical length of genetically shared regions of chromosomes.

A novel approach of kinship determination based on the physical length of genetically shared regions of chromosomes.

Background: Determination of genetic relatedness between individuals plays a crucial role in resolving numerous civil cases involving familial relationships and in forensic investigation concerning missing persons. Short tandem repeats (STRs), known for their high degree of DNA polymorphism, have traditionally been the primary choice of DNA markers in genetic testing, but their application for kinships testing is limited to cases involving close kinship. SNPs have emerged as promising supplementary markers for kinship determination. Nevertheless, the challenging remains in discriminating between third-degree or more distant relatives, such as first cousins, using SNPs.

Objective: To investigate a kinship analysis method for distant degree of familial relationships using high-density SNP data.

Methods: A high-density SNP data from 337 individuals of Korean families using Affymetrix Axiom KORV1.0-96 Array was obtained for this study. SNPs were aligned by chromosomal positions, and identity-by-state (IBS) was determined, and then shared regions as consecutive SNPs with IBS of 1 or 2 were investigated. The physical lengths of these IBS segments were measured and summed them to create an Index, as a measure of kinship.

Results: The kinship was determined by the physical length of shared chromosomal regions that are distinguished by each kinship. Using this method, the relationship was able be distinguished up to the fourth degree of kinship, and non-relatives were clearly distinguished from true relatives. We also found a potential for this approach to be used universally, regardless of microarray platforms for SNP genotyping and populations.

Conclusion: This method has a potential to determine the different degree of kinship between individuals and to distinguish non-relatives from true relatives, which can be of great help for practical applications in kinship determination.

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来源期刊
Genes & genomics
Genes & genomics 生物-生化与分子生物学
CiteScore
3.70
自引率
4.80%
发文量
131
审稿时长
6-12 weeks
期刊介绍: Genes & Genomics is an official journal of the Korean Genetics Society (http://kgenetics.or.kr/). Although it is an official publication of the Genetics Society of Korea, membership of the Society is not required for contributors. It is a peer-reviewed international journal publishing print (ISSN 1976-9571) and online version (E-ISSN 2092-9293). It covers all disciplines of genetics and genomics from prokaryotes to eukaryotes from fundamental heredity to molecular aspects. The articles can be reviews, research articles, and short communications.
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