巴拿马种群中30个INDEL多态性标记的分析:基因混合估计、种群结构和法医学参数

Carlos W. Ramos, E. Castro-Pérez, C. Molina-Jirón, D. Trejos
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摘要

近年来,短串联重复序列(STR)基因座已成功地用于巴拿马混血儿和美洲印第安人的法医遗传、亲子鉴定和人类学分析。然而,报告表明,由于其PCR扩增子的大小,在涉及DNA样品降解的情况下,STRs的使用可能受到限制,并且由于其相对较高的突变率,在父系中,STRs的使用可能受到限制。因此,作为str的补充,人们开发了插入/删除(INDEL)等PCR效率更高的标记。然而,INDELs在巴拿马人群中的遗传多态性和分布尚不清楚。使用研究者®DIPplex试剂盒(Qiagen),我们首次报道了巴拿马人群中30个INDEL标记的遗传谱。基因混合估计和种群结构表明巴拿马种群是差异混合的高度多态性。有趣的是,混合估计与我们之前使用STR的报告高度相似,表明美洲印第安人、非洲人和欧洲人的基因贡献。在这些比例中,INDELs显示出三个基因簇:0.46(第1簇)、0.24(第2簇)和0.30(第3簇),而STRs为0.51(美洲印第安人)、0.24(非洲人)和0.25(欧洲人)。我们还发现,INDELs和STRs都表明,全国各省之间的祖先基因分布具有异质性。此外,等位基因频率变异表明,所有基因座均达到Hardy-Weinberg预期,表现出较高的多样性,观察杂合度平均值为0.4477,期望杂合度平均值为0.4553,与美国和世界参考人群具有较高的相似性。此外,法医学统计参数在联合辨别力(0.9999999999987)和联合匹配概率(1.27 × 10-12)上表现出较强的显著性,而在联合排除力(0.992655332)上表现出较低的显著性。计算的法医参数表明,INDEL标记可以有效地适用于巴拿马人口的法医用途,但应补充其他标记,如用于亲子分析的STRs。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Analysis of 30 INDEL Polymorphic Markers in the Panamanian Population: Gene Admixture Estimates, Population Structure and Forensic Parameters
Short tandem repeat (STR) loci have been successfully employed for forensic genetic, paternity and anthropological analyses in the admixed and Amerindian populations of Panamanian for several years. Nevertheless, reports indicate that the use of STRs might be limited in cases involving degraded DNA samples due to their PCR amplicon size and in paternity because of their relatively high mutation rates. Therefore, as a complement to STRs, markers with higher PCR efficiency, such as insertion/deletion (INDEL), have been developed. However, the genetic polymorphisms and distribution of INDELs in the Panamanian population was unknown. Using the Investigator® DIPplex kit (Qiagen), we report here for the first time the genetic profile of 30 INDEL markers in the Panamanian population. Gene admixture estimates and population structure indicated that the Panamanian population is differentially admixed highly polymorphic. Interestingly, admixture estimates where highly similar to our previous report using STR indicating Amerindian, African and European gene contributions. INDELs showed three gene clusters in these proportions: 0.46 (cluster 1), 0.24 (cluster 2) and 0.30 (cluster 3) versus 0.51 (Amerindian), 0.24 (African) and 0.25 (European) for STRs. We also found that both, INDELs and STRs indicated that ancestral gene distribution is heterogeneous among the provinces, across the country. Furthermore, allele frequency variation showed that all loci accomplished Hardy-Weinberg expectations and display high diversity as indicated by the average of observed heterozygosity (0.4477), expected heterozygosity (0.4553) and high similarity with reference U.S. and world populations. Additionally, forensic statistic parameters showed a strong significance in the combined power of discrimination (0.9999999999987) and the combined matching probability (1.27 × 10-12) but relatively lower significance in the combined power of exclusion (0.992655332). The forensic parameters calculated indicate that INDEL markers can be affectively applicable to the Panamanian population for forensic uses but should be complemented with additional markers, such as STRs for paternity analyses.
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