• Title/Summary/Keyword: STR's analysis

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Mutation Cases in the Korean Population using 23 Autosomal STR Loci Analysis

  • Kim, Jeongyong;Kim, Hyojeong;Lee, Ja Hyun;Kim, Hyo Sook;Kim, Eungsoo
    • Biomedical Science Letters
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    • v.27 no.2
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    • pp.105-110
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    • 2021
  • Short Tandem Repeats (STR) analysis which characterized by genetic polymorphism has been widely used in the forensic genetic fields. Unfortunately, mutation occurred in various STR loci could make it difficult to interpret STR data. Thus, the mutation rate of STR loci plays an important role for the data interpretation in human identification and paternity test. To verify the mutation of the STR loci in the Korean population, 545 trio sets (father, mother, and child) were analyzed with two commercial STR kits that include the 23 autosomal STR loci (D1S1656, TPOX, D2S441, D2S1338, D3S1358, FGA, D5S818, CSF1PO, D7S820, D8S1179, D10S1248, TH01, D12S391, VWA D13S317, D16S539, D18S51, D19S433, D21S11, D22S1045, SE33, Penta E and Penta D). As a result, 36 mutations were observed in 14 STR loci. The types of mutation were also classified by the increase or decrease of the alleles. The overall mutation rate was 1.4×10-3, and the paternal mutation rate was four times higher than that of the maternal. This study will provide more detailed criterion for human identification by the mutation rate of STR loci in the Korean population.

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.

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.

Genetic Analysis study of Sasang Constitution Classification by DNA-fingerprinting methods (유전자지문법을 이용한 사상체질의 유전적 분석 연구)

  • Cho, DongWuk;Lee, ChangSoo;Ko, ByungHee;Cho, HwangSung
    • Journal of Sasang Constitutional Medicine
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    • v.8 no.2
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    • pp.151-163
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    • 1996
  • VNTR and STR DNA typing are typical genetic analysis methods which are widely used in DNA-fingerprinting for forensic science and other genetic research purposes. In this study, genomic DNA of different constitutions(Taeun, Soyang and Soum) were analyzed by VNTR and STR DNA typing to provide scientific and objective references for Sasang Medicine. It was found out in this study that VNTR-MCT118 and YNZ22 loci showed too many different variation of allele distribution and numbers for each constitution. Therefore, it is thought that VNTR typing can not used for genetic classification study for Sasang Constitution which classifies human body into 4 groups. However, vWA locus, one of the STR loci investigated in this study, showed slight difference in allele distribution for each different constitution.

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The Impact of Innovation Capability of Firms on Competitive Advantage: An Empirical Study of the ICT Industry in Thailand

  • ANUNTARUMPORN, Nuttanai;SORHSARUHT, Puris
    • The Journal of Asian Finance, Economics and Business
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    • v.9 no.2
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    • pp.121-131
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    • 2022
  • The goal of the study was to see how quality management (QMA), strategy (STR), and innovative capability (INC) influence the competitive advantage of a Thai information communication technology (ICT) firm (COA). The researchers collected 431 surveys from Thailand's owners and managers employed in ICT enterprises from the beginning of June 2021 to the end of September 2021using diverse sample strategies. A questionnaire with an index of item-objective congruence (IOC) value of 0.60-1.00 and a reliability value of 0.92-0.96 was used as the research tool. Participants in the survey were requested to fill out a seven-level opinion survey posted on Google Forms. A latent variable structural equation model (SEM) path analysis using LISREL 9.1 was used for the four latent variables, 31 manifest variables, and the five hypotheses testing. The analysis showed that all three causal variables positively affected COA, which had a total effect (TE) R2 value = 80% when combined with the other latent variables. Moreover, the values for the latent variables when ranked by total effect (TE) were STR, QMA, and INC with TE values of 0.95, 0.89, and 0.25, respectively. Finally, there were very strong influences from COA to STR (0.95), INC to QMA (0.86), and STR to QMA (0.71).

Streptomycin Resistant Genes of Pseudomonas syringae pv. syringae, the Causal Agent of Bacterial Blossom Blight of Kiwifruit (참다래 꽃썩음병 병원세균(Pseudomonas syringae pv. syringae)의 스트렙토마이신 저항성 유전자)

  • Park, So-Yeon;Han, Hyo-Shim;Lee, Young-Sun;Koh, Young-Jin;Jung, Jae-Sung
    • Research in Plant Disease
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    • v.13 no.2
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    • pp.88-92
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    • 2007
  • A total of 41 Pseudomonas syringae pv. syringae, the causal agent of bacterial blossom blight, were isolated from kiwifruit plants in Korea. Among them, two strains showing streptomycin resistance were examined to investigate the structure of resistant determinants by PCR and nucleotide sequence analysis. PCR results suggested that the streptomycin resistance is mediated by strA-strB genes carried on Tn5393a. Insertion sequences, IS6100 and IS1133, which were located within or downstream of tnpR gene in Xanthomonas campestris and Erwinia amylovora were not found. Nucleotide sequences of strA-strB were 100% identical with Tn5393a. Two stretomycin resistant strains had three plasmids. Southern blot hybridization using strA-strB probe indicated that the resistant genes were carried on a 100kb plasmid.

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.

A Study on STR Analysis According to the Method of Developing Latent Fngerprints Deposited on Non-Porous Surfaces in the Marine Environment (해양환경 내 비다공성 표면에 유류된 잠재지문 현출방법에 따른 STR 분석 연구)

  • Kim, Jin-Sun;Kim, Sea-In;Yoon, Hyun-Kyoung;Choo, Min-kyu
    • The Journal of the Korea Contents Association
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    • v.22 no.10
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    • pp.733-741
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    • 2022
  • Among the various evidence found in maritime crimes, fingerprints and DNA are very important in that they can identify a suspect. In this study, 5 types of non-porous surfaces (plastic, stainless, glass, ceramic, FRP), which are often found as evidence in the actual marine environment, were selected, and latent and blood fingerprints were passed down and immersed at the Donghae Maritime Police Station's exclusive pier for about 7 days. After that, DNA extraction, quantification, and STR profile were analyzed after fingerprint developing CA fumming method and 4 powder methods (Swedish black powder, Concentrated black powder, Supranano red powder, Dazzle orange powder). Among the fingerprint developing methods, when Supranano red powder was applied, a relatively high amount of DNA was found. As a result of STR profile analysis, an average of 16.8 to 9 loci were secured, and all 20 were confirmed in glass and ceramic materials. As a result of the study, it was possible to secure the STR profile by extracting and quantifying DNA after applying the fingerprint developing method to virtual evidence immersed for about 7 days, and further research is needed to secure the STR profile by analyzing DNA after applying various fingerprint developing methods such as VMD and SPR.

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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