• Title/Summary/Keyword: Short tandem repeat (STR) analysis

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PCR Analysis of Four Length-Polmorphic Loci in Korea Population for Genotyping

  • Ryu, Jae-Song;Koo, Yoon-Mo;So, Jae-Seong
    • Biotechnology and Bioprocess Engineering:BBE
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    • v.5 no.3
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    • pp.169-173
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    • 2000
  • On human chromoscomes, a short sequence of DNA is known to repeat a number of times. These are called variable number of tandem repeat (VNTR) or short tandem respeat (STR) which has a short core. VNTR and STR are used in the filed of forensic science, evolution, and anthropology. In this work, we examined allele frequencies of one VNTR (YNZ22) and three STRs (NeuR, D21S11, Humth01) in a korean population sample by polymerase chain reaction (RCP) followed by high-resolution polyacrylamide gel electro-phoresis (PAGE) with silver stain. Subsequently, the polymorphism information content (PIC) was calculated : the hifhest PIC was observed in the NeuR locus (0.95680) and lowest in the Humth01 locus (0.75809).

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Analysis of Short Tandem Repeat(STR) Locus F13B by Polymerase Chain Reaction in Korean (한국인에서 중합효소반응을 이용한 Short Tandem Repeat(STR)유전좌위 F13B분석)

  • Yong-Sik Kim;Woong Hur;Chang-Lyuk Yoon
    • Journal of Oral Medicine and Pain
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    • v.21 no.2
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    • pp.243-253
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    • 1996
  • In order to be utilized as a database in forensic identification and parentage test, allelic frequency and genotype distribution of short tandem repeat(STR) F13B locus was analysed by polymerase chain reaction in 210 Korean adults who are not related. The results were as follows. 1. 3 alleles and 56 genotypes of F13B locus were detected and heterozygosity value was 48.6% and allelic diversity value was 0.639 and the power of discrimination was 0.804. 2. The observed each alleles and allelic frequency was 8(0.069), 9(0.193), 10(0.738). In conclusion, the allelic frequency of STR F13B locus in the Korean is considered as an useful DNA allelic profile for forensic identification, but it should be used with several other STR locus to get definitive conclusion of analysis for individual identification and parentage testing.

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A Review of Extended STR Loci and DNA Database

  • Cho, Yoonjung;Lee, Min Ho;Kim, Su Jin;Park, Ji Hwan;Jung, Ju Yeon
    • Biomedical Science Letters
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    • v.28 no.3
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    • pp.157-169
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    • 2022
  • DNA typing is the typical technology in the forensic science and plays a significant role in the personal identification of victims and suspects. Short tandem repeat (STR) is the short tandemly repeated DNA sequence consisting of 2~7 bp DNA units in specific loci. It is disseminated across the human genome and represents polymorphism among individuals. Because polymorphism is a key feature of the application of DNA typing STR analysis, STR analysis becomes the standard technology in forensics. Therefore, the DNA database (DNA-DB) was first introduced with 4 essential STR markers for the application of forensic science; however, the number of STR markers was expanded from 4 to 13 and 13 to 20 later to counteract the continuously increased DNA profile and other needed situations. After applying expanded STR markers to the South Korean DNA-DB system, it positively affected to low copy number analysis that had a high possibility of partial DNA profiles, and especially contributed to the theft cases due to the high portion of touch DNA evidence in the theft case. Furthermore, STR marker expansion not only contributed to the resolution of cold cases but also increased kinship index indicating the potential for improved kinship test accuracy using extended STR markers. Collectively, the expansion of the STR locus was considered to be necessary to keep pace with the continuously increasing DNA profile, and to improve the data integrity of the DNA-DB.

A Case of Single-step Mutations at Two Short Tandem Repeat loci (D13S317 and DXS10148) among Three Generations of a Korean Family

  • Byeong Ju Youn;Kyungmyung Lee;Cho Hee Kim
    • Biomedical Science Letters
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    • v.28 no.4
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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.

Forensic STR Analysis of Mixed Chimerism after Allogeneic Bone Marrow Transplantation

  • Eom, Yong-Bin
    • Biomedical Science Letters
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    • v.16 no.3
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    • pp.193-196
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    • 2010
  • Multiplex PCR-based short tandem repeat (STR) analysis is considered as a good tool for monitoring bone marrow engraftment after sex-mismatched allogeneic transplantation and provides a sensitive and accurate assessment of the contribution of both donor and/or recipient cells in post-transplantation specimens. Forensic STR analysis and quantitative real time PCR are used to determine the proportion of donor versus recipient each contained within the total DNA. The STR markers were co-amplified in a single reaction by using commercial $PowerPlex^{(R)}$ 16 system and $AmpFISTR^{(R)}$ $Identifiler^{(R)}$ / $Yfiler^{(R)}$ PCR amplification kits. Separation of the PCR products and fluorescence detection were performed by ABI $PRIS^{(R)}$ 3100 Genetic Analyzer with capillary electrophoresis. The $GeneMapper^{TM}$ ID software were used for size calling and analysis of STR profiles. Extracted DNA was quantified by the $Quantifiler^{TM}$ Human DNA / Y Human Male DNA Quantification Kit The intent of this study was to analyze the ratio of donor versus recipient cells in the post-transplant peripheral blood, spleen, lung and kidney specimens. Specimens were taken from the traffic accident male victim who had been engrafted from bone marrow female donor. Blood and spleen specimens displayed female donor DNA profile. Kidney specimen showed male recipient DNA profile. Interestingly, lung tissue showed mixed profiles. The findings of this study indicate that the forensic STR analysis using fluorescence labeling PCR combined with capillary electrophoresis is quick and reliable enough to assess the ratio of donor versus recipient cells and to monitor the mixed chimeric patterns.

Development and Applications of A Paternity and Kinship Analysis System Based on DNA Data (유전자 분석 자료에 의한 친자 및 혈연관계 분석시스템 개발 및 활용)

  • Koo, Kyo-Chan;Kim, Sun-Uk
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.16 no.10
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    • pp.6715-6721
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    • 2015
  • Recently, DNA data of missing person, killed person, and missing child continue to increase but most of statistical calculation for paternity confirmation is being done through manual methods or Excel. Therefore, we need development of a software which is able to facilitate both systematic management and effective analysis of Short Tandem Repeat (STR) derived from DNA data. Without extensive testing, through a twenty-month study was developed a web-based system which performs paternity analysis and kinship analysis easily based on the various options. The former uses an existing algorithm for paternity index and the latter does Identity by descent (IBD) formula. Due to our system validated over real datasets in terms of likelihood ratio and probability of paternity, it ensures increased reliability as well as effective management and analysis of DNA data in mass disaster. In addition, it includes advanced features such as an integrated environment, user-centered interface, process automation and so on.

Evaluation of DNA Extraction Methods from Low Copy Number (LCN) DNA Samples for Forensic DNA Typing

  • Eom, Yong-Bin
    • Biomedical Science Letters
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    • v.15 no.3
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    • pp.229-232
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    • 2009
  • DNA isolation for PCR-based short tandem repeat (STR) analysis is essential to recover high yields of amplifiable DNA from low copy number (LCN) DNA samples. There are different methods developed for DNA extraction from the small bloodstain and gloves, commonly found at crime scenes. In order to obtain STR profiles from LCN DNA samples, DNA extraction protocols, namely the automated $iPrep^{TM}$ $ChargeSwitch^{(R)}$ method, the automated $QIAcube^{TM}$ method, the automated $Maxwell^{(R)}$ 16 DNA $IQ^{TM}$ Resin method, and the manual $QIAamp^{(R)}$ DNA Micro Kit method, were evaluated. Extracted DNA was quantified by the $Quantifiler^{TM}$ Human DNA Quantification Kit and DNA profiled by $AmpFISTR^{(R)}$ $Identifiler^{(R)}$ Kit. Results were compared based on the amount of DNA obtained and the completeness of the STR profiles produced. The automated $iPrep^{TM}$ $ChargeSwitch^{(R)}$ and $QIAcube^{TM}$ methoas produced reproducible DNA of sufficient quantity and quality trom the dried blood spot. This two automated methods showed a quantity and quality comparable to those of the forensic manual standard protocols normally used in our laboratory. In our hands, the automated DNA extraction method is another obvious choice when the forensic case sample available is bloodstain. The findings of this study indicate that the manual simple modified $QIAamp^{(R)}$ DNA Micro Kit method is best method to recover high yields of amplifiable DNA from the numerous potential sources of LCN DNA samples.

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Null Allele in the D18S51 Locus Responsible for False Homozygosities and Discrepancies in Forensic STR Analysis

  • Eom, Yong-Bin
    • Biomedical Science Letters
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    • v.17 no.2
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    • pp.151-155
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    • 2011
  • Short tandem repeats (STRs) loci are the genetic markers used for forensic human identity test. With multiplex polymerase chain reaction (PCR) assays, STRs are examined and measured PCR product length relative to sequenced allelic ladders. In the repeat region and the flanking region of the commonly-used STR may have DNA sequence variation. A mismatch due to sequence variation in the DNA template may cause allele drop-out (i.e., a "null" or "silent" allele) when it falls within PCR primer binding sites. The STR markers were co-amplified in a single reaction by using commercial PowerPlex$^{(R)}$ 16 system and AmpFlSTR$^{(R)}$ Identifiler$^{(R)}$ PCR amplification kits. Separation of the PCR products and fluorescence detection were performed by ABI PRISM$^{(R)}$ 3100 Genetic Analyzer with capillary electrophoresis. The GeneMapper$^{TM}$ ID software were used for size calling and analysis of STR profiles. Here, this study described a forensic human identity test in which allelic drop-out occurred in the STR system D18S51. During the course of human identity test, two samples with a homozygous (16, 16 and 21, 21) genotype at D18S51 locus were discovered using the PowerPlex$^{(R)}$ 16 system. The loss of alleles was confirmed when the samples were amplified using AmpFlSTR$^{(R)}$ Identifiler$^{(R)}$ PCR amplification kit and resulted in a heterozygous (16, 20 and 20, 21) genotype at this locus each other. This discrepancy results suggest that appropriate measures should be taken for database comparisons and that allele should be further investigated by sequence analysis and be reported to the forensic community.

Improvement of the Discrimination Capacity through the Expansion of Y Chromosomal STR Markers

  • Dong Gyu Lee;So Eun Lee;Ji Hwan Park;Si-Keun Lim;Ju Yeon Jung
    • Biomedical Science Letters
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    • v.29 no.4
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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.

Study on Sasang Constitution by Genetic Analysis Using Four Short Tandem Repeat Loci (유전적(遺傳的) 분석법(分析法)에 의한 사상체질(四象體質)의 연구(硏究))

  • Kim, Min-hee;Kim, Kyung-seok;Chi, Sang-en;Choi, Sun-mi;Cho, Dong-wuk
    • Journal of Sasang Constitutional Medicine
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    • v.11 no.1
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    • pp.169-183
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    • 1999
  • This study was carried out for the objectification and clinical application of the Sasang Constitutional Medicine(四象醫學). So, the Taeum Soyang, Soum groups were classified by diagnostic rules of Sasang constitution, and investigated by Amp-FLP method far genetic difference. The Amp-FLP was one of the most frequently used human genetic analysis methods which adopts STR typing. In this study, 100 genomic DNA samples of Taeum, Soyang, Soum constitution group were analysed by Amp-FLP method. Allele frequencies of four tetrameric short tandem repeat(STR) loci(TPOX, LPL, D21744, and D13S317) were determined in Taeum, Soyang, Soum groups. The heterozygosities and the polymorphism information content(PIC) values of forur STR loci were 0.812 and 0.789 in D3S1744, 0.811 in D13S317, 0.466 and 0.417 in LPL, and 0.625 and 0.561 in TPOX, respectively. The allele distribution of four STR loci was statistically evaluated. It was found out that the allele distribution of four STR loci was not significantly different among different constitutions. But all loci were found to be highly polymorphic in Taeum, Soyang, Soum groups. It was found out in this study that Taeum, Soum groups are genetically more related each other than they are related to Soyang groups.

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