对来自巴西圣保罗州的人群样本中的 32 个 X 染色体插入缺失进行遗传特征分析。
Genetic characterization of 32 X-InDels in a population sample from São Paulo State (Brazil).
机构信息
Laboratory of Paternity Investigation, School of Pharmaceutical Sciences, São Paulo State University (UNESP), São Paulo, Brazil.
Research Centre for Biochemistry and Molecular Biology, Medical School of São José do Rio Preto (FAMERP), São Paulo, Brazil.
出版信息
Int J Legal Med. 2019 Sep;133(5):1385-1388. doi: 10.1007/s00414-018-01988-w. Epub 2019 Jan 5.
X-chromosomal markers can be useful in some forensic cases, where the analysis of the autosomal markers is not conclusive. In this study, a population sample of 500 unrelated individuals born in São Paulo State was characterized for 32 X-InDel markers. No deviations from the Hardy-Weinberg equilibrium were detected, except for MID1361. The 32 X-InDels showed an accumulated power of discrimination of 0.9999999999993 in females and 0.99999993 in males and an exclusion chance of 0.999996 in trios and 0.99995 in duos. São Paulo showed lower genetic distances to the Colombian admixed and European populations than to Native American, Asian, or African populations. Ancestry analysis revealed 41.8% European, 31.6% African, and 26.6% Native American contributions. Segregation analysis was performed in 101 trios, and the mutation rate was estimated to be low.
X 染色体标记物在某些法医学案例中可能很有用，在这些案例中，常染色体标记物的分析结果并不明确。在这项研究中，对来自巴西圣保罗州的 500 名无血缘关系的个体进行了 32 个 X 染色体插入/缺失（InDel）标记物的特征分析。除了 MID1361 之外，没有发现偏离 Hardy-Weinberg 平衡的情况。这 32 个 X 染色体 InDel 在女性中的累积判别能力为 0.9999999999993，在男性中的累积判别能力为 0.99999993，在三人和二人组中的排除机会分别为 0.999996 和 0.99995。与美洲原住民、亚洲或非洲人群相比，圣保罗与哥伦比亚混血和欧洲人群的遗传距离更近。祖籍分析显示，欧洲血统占 41.8%，非洲血统占 31.6%，美洲原住民血统占 26.6%。对 101 个三人组进行了分离分析，估计突变率较低。
Zotero 插件