Casals Ferran, Anglada Roger, Bonet Núria, Rasal Raquel, van der Gaag Kristiaan J, Hoogenboom Jerry, Solé-Morata Neus, Comas David, Calafell Francesc
Genomics Core Facility, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, 08003 Barcelona, Catalonia, Spain.
Division of Biological Traces, Netherlands Forensic Institute, Laan van Ypenburg 6, 2497 GB, The Hague, The Netherlands.
Forensic Sci Int Genet. 2017 Sep;30:66-70. doi: 10.1016/j.fsigen.2017.06.006. Epub 2017 Jun 16.
We have genotyped the 58 STRs (27 autosomal, 24 Y-STRs and 7 X-STRs) and 94 autosomal SNPs in Illumina ForenSeq™ Primer Mix A in 88 Spanish Roma (Gypsy) samples and 143 Catalans. Since this platform is based in massive parallel sequencing, we have used simple R scripts to uncover the sequence variation in the repeat region. Thus, we have found, across 58 STRs, 541 length-based alleles, which, after considering repeat-sequence variation, became 804 different alleles. All loci in both populations were in Hardy-Weinberg equilibrium. F between both populations was 0.0178 for autosomal SNPs, 0.0146 for autosomal STRs, 0.0101 for X-STRs and 0.1866 for Y-STRs. Combined a priori statistics showed quite large; for instance, pooling all the autosomal loci, the a priori probabilities of discriminating a suspect become 1-(2.3×10) and 1-(5.9×10), for Roma and Catalans respectively, and the chances of excluding a false father in a trio are 1-(2.6×10) and 1-(2.0×10).
我们对88份西班牙罗姆人（吉普赛人）样本和143份加泰罗尼亚人的样本，采用Illumina ForenSeq™引物混合物A对58个短串联重复序列（27个常染色体、24个Y染色体短串联重复序列和7个X染色体短串联重复序列）和94个常染色体单核苷酸多态性进行了基因分型。由于该平台基于大规模平行测序技术，我们使用了简单的R脚本以揭示重复区域中的序列变异。因此，我们在58个短串联重复序列中发现了541个基于长度的等位基因，在考虑重复序列变异后，这些等位基因变为804个不同的等位基因。两个群体中的所有基因座均处于哈迪-温伯格平衡状态。两个群体之间的固定指数（F）对于常染色体单核苷酸多态性为0.0178，对于常染色体短串联重复序列为0.0146，对于X染色体短串联重复序列为0.0101，对于Y染色体短串联重复序列为0.1866。联合先验统计显示数值相当大；例如，将所有常染色体基因座合并，对于罗姆人和加泰罗尼亚人，识别嫌疑人的先验概率分别为1-(2.3×10)和1-(5.9×10)，在三联体中排除假父亲的概率分别为1-(2.6×10)和1-(2.0×10)。
