Discriminating between uncle-nephew and grandfather-grandson kinships by analyzing chromosomal sharing patterns
Discriminating between uncle-nephew and grandfather-grandson kinships by analyzing chromosomal sharing patterns
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通过分析染色体共享模式区分叔侄和祖孙亲属关系
DOI：
10.1016/j.fsigss.2017.09.143
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发表时间：
2017
影响因子：
--
通讯作者：
Tamaki Keiji
中科院分区：
文献类型：
--
作者：
Morimoto Chie;Manabe Sho;Fujimoto Shuntaro;Hamano Yuya;Tamaki Keiji
具有相同程度的亲属关系（例如，叔侄和祖孙）的特征在于大约相同数量的染色体共享。因此，法医遗传学中常用的短串联重复序列基因座难以区分这类亲缘关系。然而，染色体共享模式预计会因来自共同祖先的重组频率而在关系之间存在差异，即使存在相同程度的亲属关系。本研究采用高密度单核苷酸多态性（SNP）技术，对249对叔侄和祖孙的174，254个常染色体SNP进行了基因型分析，并考虑了每个SNP之间的连锁不平衡效应。我们计算了共享的染色体片段的数量的基础上的身份由国家地区。然后，我们进行了受试者工作特征曲线分析，以评估每个关系中共享片段数量之间的重叠，并设置一个截止值。根据截断值，我们还确定了实际相关对基因分型的DNA微阵列的关系，叔侄对的共享片段数大于祖孙对。曲线下面积为0.99954，表明这两种关系明显不同。几乎所有的实际样品对之间的关系，正确地确定了截止值。因此，共有的染色体片段的数量是区分具有相同亲缘关系的关系的一个有用的尺度。
Relationships with the same degree of kinship (e.g., uncle-nephew and grandfather-grandson) are characterized by approximately the same amount of chromosomal sharing. Therefore, it is difficult to distinguish such relationships by commonly used short tandem repeat loci in forensic genetics. However, chromosomal sharing patterns are expected to differ between relationships, even when the same degree of kinship is present, by the frequency of recombination from common ancestors. In this study, we investigated the differences in chromosomal sharing patterns between uncle-nephew and grandfather-grandson pairs using high-density single nucleotide polymorphisms (SNPs).We computationally generated genotypes of 174,254 autosomal SNPs in 249 uncle-nephew and grandfather-grandson pairs, while considering the effect of linkage disequilibrium between each SNP. We counted the number of shared chromosomal segments on the basis of identity by state regions. We then performed receiver operating characteristic curve analysis to evaluate the overlap between the number of shared segments in each relationship, and set a cut-off value. We also determined the relationship of actual related pairs genotyped by DNA microarray, based on the cut-off value.The number of shared segments in uncle-nephew pairs was larger than that in grandfather-grandson pairs. The area under the curve was 0.99954, indicating that the two relationships were clearly different. Relationships between almost all actual sample pairs were correctly determined by the cut-off value. Therefore, the number of shared chromosomal segments is a useful measure for discrimination between relationships with the same degree of kinship.
影响因子：
3.7
作者：
Morimoto C;Manabe S;Kawaguchi T;Kawai C;Fujimoto S;Hamano Y;Yamada R;Matsuda F;Tamaki K
通讯作者：
Tamaki K