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 CSFIPO. 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.
Zusammenfassung
In einer Schweizer Bevölkerungs-Stichprobe (n = 100) wurden mittels der GenePrint STR Multiplex System und nach Auftrennung auf Sequenziergelen und Silberfärbung die Allel- und Genotyp-Frequenzen der drei Short-Tandem-Repeat Loci HUMTH01, TPOX und CSF1P0 bestimmt. Die beobachteten Heterozygotieraten sind 83.0%, 60.0% bzw. 72.0%. Die Diskriminationsindices der einzelnen Loci betragen 0.914, 0.780, bzw. 0.860, der kombinierte Diskriminationsindex 0.997. Alle Loci erfüllen die Hardy-Weinberg Kriterien und nach Bonferroni-Korrektur finden sich keine Hinweise für eine Koppelung von Allelen der drei Loci. Darüber hinaus wurde die Unabhängigkeitsregel zwischen diesen drei Loci und anderen Loci aus der gleichen Schweizer Bevölkerungs-Stichprobe, deren Daten bereits publiziert wurden, überprüft. Diese Loci sind DQA1, LDLR, GYPA, HBGG, D7S8, GC and D1S80. Es ergaben sich nach Bonferroni-Korrektur wiederum keine Hinweise auf eine Koppelung von Allelen der insgesamt zehn auf PCR basierenden Loci. Die ermittelten Allelfrequenzen können somit zur Abschätzung der Häufigkeit eines aus diesen Loci zusammengesetzten DNA Profils in der Schweizer Bevölkerung herangezogen werden.
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Hochmeister, M.N., Budowle, B., Schumm, J.W. et al. Swiss population data and forensic efficiency values on 3 tetrameric short tandem repeat loci-HUMTH01, TPOX, and CSFIPO - derived using a STR multiplex system. Int J Leg Med 107, 246–249 (1995). https://doi.org/10.1007/BF01245482
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DOI: https://doi.org/10.1007/BF01245482
Key words
- DNA-STR's
- HUMTH01
- TPOX
- CSFIPO-Polymarker
- Population genetics
- Switzerland
- Hardy-Weinberg expectations
- Linkage equilibrium
- PCR