Discrimination of relationships with the same degree of kinship using chromosomal sharing patterns estimated from high-density SNPs
Discrimination of relationships with the same degree of kinship using chromosomal sharing patterns estimated from high-density SNPs
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DOI：
10.1016/j.fsigen.2017.11.010
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发表时间：
2018-03-01
影响因子：
3.1
通讯作者：
Tamaki，Keiji
中科院分区：
文献类型：
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作者：
Morimoto，Chie;Manabe，Sho;Tamaki，Keiji
区分具有相同亲属关系程度的关系（例如，叔-侄和祖父-孙子）在法医遗传学中通常很难通过使用常用的短串联重复基因座进行鉴定。在这项研究中，我们开发了一种新的方法，通过检查从高密度单核苷酸多态性（SNP）估计的染色体共享片段的数量来识别两个个体之间的这种关系。叔侄关系和祖孙关系）和三等亲属关系（即，第一代表兄弟和曾祖父-曾孙子）的174，254个常染色体SNP，考虑到每个SNP的连锁不平衡和重组的影响。我们调查了两个人之间的共享染色体片段，这些片段是根据州区域的身份估计的。然后，我们计算了每对中的片段数，根据我们的结果，旁系关系中共享的染色体片段数大于直系关系中的片段数，无论是二级亲属还是三级亲属。这可能是由染色体转换和关系之间的重组差异引起的。当我们使用逻辑回归基于共享片段的数量对模拟对之间的关系进行概率评估时，我们可以使用关系≥0.9的概率标准确定>90%的二级亲属和>70%的三级亲属的准确关系。此外，我们可以判断真实的志愿者样本对之间的关系，以及模拟数据。因此，这种方法可以用于辨别具有相同亲属关系程度的两个个体之间的关系。
Distinguishing relationships with the same degree of kinship (e.g., uncle–nephew and grandfather–grandson) is generally difficult in forensic genetics by using the commonly employed short tandem repeat loci. In this study, we developed a new method for discerning such relationships between two individuals by examining the number of chromosomal shared segments estimated from high-density single nucleotide polymorphisms (SNPs).We computationally generated second-degree kinships (i.e., uncle–nephew and grandfather–grandson) and third-degree kinships (i.e., first cousins and great-grandfather–great-grandson) for 174,254 autosomal SNPs considering the effect of linkage disequilibrium and recombination for each SNP. We investigated shared chromosomal segments between two individuals that were estimated based on identity by state regions. We then counted the number of segments in each pair.Based on our results, the number of shared chromosomal segments in collateral relationships was larger than that in lineal relationships with both the second-degree and third-degree kinships. This was probably caused by differences involving chromosomal transitions and recombination between relationships. As we probabilistically evaluated the relationships between simulated pairs based on the number of shared segments using logistic regression, we could determine accurate relationships in >90% of second-degree relatives and >70% of third-degree relatives, using a probability criterion for the relationship ≥0.9. Furthermore, we could judge the true relationships of actual sample pairs from volunteers, as well as simulated data. Therefore, this method can be useful for discerning relationships between two individuals with the same degree of kinship.