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利用短串联重复序列(STR)复合扩增系统得出的瑞士人群数据以及3个四聚体短串联重复序列基因座(HUMTH01、TPOX和CSF1PO)的法医鉴定效率值。

Swiss population data and forensic efficiency values on 3 tetrameric short tandem repeat loci-HUMTH01, TPOX, and CSF1PO-derived using a STR multiplex system.

作者信息

Hochmeister M N, Budowle B, Schumm J W, Sprecher C J, Borer U V, Dirnhofer R

机构信息

Institute of Legal Medicine, Bern, Switzerland.

出版信息

Int J Legal Med. 1995;107(5):246-9. doi: 10.1007/BF01245482.

Abstract

Allele and genotype frequencies for 3 tetrameric short tandem repeat loci were determined in a Swiss population sample (n = 100) using the GenePrint STR Multiplex System, electrophoresis of the PCR products in DNA sequencing gels and subsequent detection of allelic fragments by silver staining. The loci are HUMTH01, TPOX, and CSF1PO. The observed heterozygosities are 83.0%, 60.0%, and 72.0%, respectively. The discrimination power determined for the individual loci is 0.914, 0.780, and 0.860, respectively, and the combined discrimination power for the triplex is 0.997. All loci meet Hardy-Weinberg expectations and after Bonferroni correction there was no evidence that the population sample deviates from expectations of independence. Moreover, independence of alleles at these STR loci with other PCR-based loci derived from the same Swiss population sample, previously reported, were considered. These loci were DQA1, LDLR, GYPA, HBGG, D7S8, GC and D1S80. Again, after Bonferroni correction there was no evidence that the population sample deviates from expectations of independence among alleles at the 10 different PCR-based loci. Thus, the allelic frequency data can be used in human identity testing to estimate the frequency of a multiple PCR-based DNA profile in the Swiss population.

摘要

使用GenePrint STR多重系统、在DNA测序凝胶中对PCR产物进行电泳并随后通过银染检测等位基因片段,在一个瑞士人群样本(n = 100)中确定了3个四聚体短串联重复序列位点的等位基因和基因型频率。这些位点分别是HUMTH01、TPOX和CSF1PO。观察到的杂合度分别为83.0%、60.0%和72.0%。为各个位点确定的鉴别力分别为0.914、0.780和0.860,三联体的联合鉴别力为0.997。所有位点均符合哈迪-温伯格预期,经邦费罗尼校正后,没有证据表明人群样本偏离独立性预期。此外,还考虑了这些STR位点的等位基因与先前报道的来自同一瑞士人群样本的其他基于PCR的位点之间的独立性。这些位点分别是DQA1、LDLR、GYPA、HBGG、D7S8、GC和D1S80。同样,经邦费罗尼校正后,没有证据表明人群样本偏离10个不同基于PCR的位点上等位基因之间的独立性预期。因此,等位基因频率数据可用于人类身份检测,以估计瑞士人群中基于多重PCR的DNA图谱的频率。

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