• 대한의생명과학회지
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• 제28권4호
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• pp.327-333
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• 2022

The DNA profiling of short tandem repeat (STR) markers is a powerful tool for forensic identification and forensic paternity testing. However, STR loci are susceptible to mutation that cause mismatches between parents and children when paternity is tested. Herein, we examined paternity disputes with 23 autosomal STR loci using two commercial human identification kits and revealed successive mismatches at the D13S317 locus across three generations of a Korean family. Additionally, we investigated 12 X-chromosomal STRs and discovered an inconsistency at the DXS10148 locus between the father and daughter of the same Korean family. Furthermore, we confirmed STR genotypes at the D13S317 and DXS10148 loci of the family using sequencing analysis. Consequently, we identified a successive single-step mutation at the D13S317 locus and one single-step mutation at the DXS10148 locus in three generations of the Korean family. Therefore, this case study may be useful for interpreting and understanding forensic paternity tests.

• 대한의생명과학회지
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• 제26권4호
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• pp.275-287
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• 2020

Since its introduction in the forensic field, quantitative PCR (qPCR) has played an essential role in DNA analysis. Quality of DNA should be evaluated before short tandem repeat (STR) profiling to obtain reliable results and reduce unnecessary costs. To this end, various human DNA quantification kits have been developed. Among these kits, the PowerQunat® System was designed not only to determine the total amount of human DNA and human male DNA from a forensic evidence item, but also to offer data about degradation of DNA samples. However, a crucial limitation of the PowerQunat® System is its high cost. Therefore, to minimize the cost of DNA quantification, we evaluated kit performance using a reduced volume of reagents (1/2-volume) using DNA samples of varying types and concentrations. Our results demonstrated that the low-volume method has almost comparable performance to the manufacturer's method for human DNA quantification, human male DNA quantification, and DNA degradation index. Furthermore, using a reduced volume of regents, it is possible to run 2 times more reactions per kit. We expect the proposed low-volume method to cut costs in half for laboratories dealing with large numbers of DNA samples.

• 대한의생명과학회지
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• 제29권4호
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• pp.302-313
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• 2023

Y chromosomal short tandem repeat (Y-STR) markers have been developed continuously to complement forensic DNA analyses and population genetic studies. Initially, we collected data from previously reported Korean population Y-STR haplotype studies on 1133 individuals. We then conducted a marker expansion analysis using a dataset from the Y-STR Haplotype Reference Database (YHRD), covering up to 29 Y-STRs, referred to as Ymax. Additionally, we examined the impact of rapidly mutating (RM) Y-STRs included in this expanded marker set on the discrimination capacity. We observed that marker expansions both with (0.9896), and without (0.9510), RM Y-STR improved the discrimination capacity. Subsequently, we focused on 16 individuals belonging to seven distinct groups sharing identical haplotypes. These particular haplotypes had been previously identified among 476 unrelated males using 23 Y-STR markers from the PowerPlex^® Y23 System. We expanded the marker panel up to Ymax to explore how discrimination improved with an expansion of Y-STR markers for these 16 individuals. Among the expanded markers, DYS627, which had high discriminatory power, had a high mutation rate (1.10 × 10^-2) and high gene diversity (0.83). In contrast, DYF387S1 displayed high gene diversity (0.95) but a relatively low mutation rate (2.80 × 10^-3). We propose that these findings will be valuable in the selection of suitable Y-STR markers, depending on the objectives of forensic analyses. Additionally, the presence of frequently observed Y-haplotypes in Korean population will facilitate statistical interpretation in Y-STR DNA profiling.