• Title/Summary/Keyword: short tandem repeat polymorphism

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PCR-based genotyping of Korean population for forensic applications

  • Ryu, Jae-Song;Gu, Yun-Mo;So, Jae-Seong
    • 한국생물공학회:학술대회논문집
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    • 2000.04a
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    • pp.592-595
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    • 2000
  • In human chromosome, a short sequence of DNA has been repeated a number of times. These repeats are called variable number of tandem repeat(VNTR) or short tandem repeat(STR) which has short repeat core. VNTR and STR are used in the field of forensic science, evolution, and anthropology. In this work, we examined allele frequencies of 3 VNTR(YNZ22, NeuR, D21S11) and one STR(Humth01) in a Korean population sample by polymerase chain reaction(PCR) followed by high-resolution polyacrylamide gelelectrophoresis(PAGE) with silver staining. Subsequently, the polymorphism information content(PIC) was calculated : the highest PIC was observed for the NeuR locus(0.95680) and lowest for the Humth01 locus(0.75809).

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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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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.

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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Identification of Genetic Markers for Korean Native Cattle (Hanwoo) by RAPD Analysis

  • Yeo Jung Sou;Lee Ji Sun;Lee Chang Hee;Jung Young Ja;Nam Doo Hyun
    • Biotechnology and Bioprocess Engineering:BBE
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    • v.5 no.1
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    • pp.23-26
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    • 2000
  • In order to develop the specific genetic marker for Korean native cattle (Hanwoo), randomly amplified polymorphic DNA (RAPD) analysis of 6 different cattle breeds was attempted by using 38 decamer primers. In comparison of RAPD patterns, two distinctive DNA bands specific for Hanwoo were detected. One was 296 bp of DNA fragment found to be specific only for female Hanwoo when primer GTCCACACGG was employed. In individual analysis of this RAPD marker was observed only in female individuals with the possibility of $85.3\%$. The other was 521 bp of RAPD marker amplified using TCGGCGATAG and AGCCAGCGAA primers, which showed $83.0\%$ of genetic frequency in 85 male and 68 female individuals tested. Nucleotide sequencing of these genetic markers revealed that 296 bp marker has a short micro satellite-like sequence, ACCACCACAC, and a tandem repeat sequence of microsatellite GAAAAATG in the determined sequence. Two distinctive tandem repeats of microsatellite sequences, MC and GAAGA, were also appeared in 521 bp DNA marker. In BLAST search, any gene having high homology with these markers was not found.

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A Genetic Marker for the Korean Native Cattle (Hanwoo) Found by an Arbitrarily Primed-Polymerase Chain Reaction (AP-PCR)

  • Lee, Ji-Seon;Lee, Chang-Hee;Nam, Doo-Hyun;Jung, Young-Ja;Yeo, Jung-Sou
    • BMB Reports
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    • v.33 no.3
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    • pp.208-212
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    • 2000
  • In order to develop a specific genetic marker for the Korean native cattle (Hanwoo), an arbitrarily-primed polymerase chain reaction (AP-PCR) analysis of 6 different cattle breeds was attempted. Eight different arbitrary primers, each longer than 20-mer nucleotides, were used. In comparison to the AP-PCR patterns, several distinctive DNA bands that are specific for a certain breed were detected. When the primer Kpn-X was employed, a 280bp DNA fragment was found to be specific only for Hanwoo. In an individual analysis of Hanwoo, this AP-PCR marker was observed in 123 head of cattle among the 153 that were tested (80.4%). Nucleotide sequencing revealed that this fragment has a short microsatellite sequence of tandem repeat, $A(G)_{1-2}\;(C)_{1-3}AGAG$. According to the analysis of AP-PCR band patterns, Hanwoo was discovered to be genetically most closely-related with Holstein among the various cattle breeds.

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Development of a Simple Method to Determine the Mouse Strain from Which Cultured Cell Lines Originated

  • Yoshino, Kaori;Saijo, Kaoru;Noro, Chikako;Nakamura, Yukio
    • Interdisciplinary Bio Central
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    • v.2 no.4
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    • pp.14.1-14.9
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    • 2010
  • Misidentification of cultured cell lines results in the generation of erroneous scientific data. Hence, it is very important to identify and eliminate cell lines with a different origin from that being claimed. Various methods, such as karyotyping and isozyme analysis, can be used to detect inter-species misidentification. However, these methods have proved of little value for identifying intra-species misidentification, and it will only be through the development and application of molecular biological approaches that this will become practical. Recently, the profiling of microsatellite variants has been validated as a means of detecting gene polymorphisms and has proved to be a simple and reliable method for identifying individual cell lines. Currently, the human cell lines provided by cell banks around the world are routinely authenticated by microsatellite polymorphism profiling. Unfortunately, this practice has not been widely adopted for mouse cells lines. Here we show that the profiling of microsatellite variants can be also applied to distinguish the commonly used mouse inbred strains and to determine the strain of origin of cultured cell lines. We found that approximately 4.2% of mouse cell lines have been misidentified; this is a similar rate of misidentification as detected in human cell lines. Although this approach cannot detect intra-strain misidentification, the profiling of microsatellite variants should be routinely carried out for all mouse cell lines to eliminate inter-strain misidentification.

Inbreeding Coefficients in Two Isolated Mongolian Populations - GENDISCAN Study

  • Sung, Joo-Hon;Lee, Mi-Kyeong;Seo, Jeong-Sun
    • Genomics & Informatics
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    • v.6 no.1
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    • pp.14-17
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    • 2008
  • GENDISCAN study (Gene Discovery for Complex traits in Asian population of Northeast area) was designed to incorporate methodologies which enhance the power to identify genetic variations underlying complex disorders. Use of population isolates as the target population is a unique feather of this study. However, population isolates may have hidden inbreeding structures which can affect the validity of the study. To understand how this issue may affect results of GENDISCAN, we estimated inbreeding coefficients in two study populations in Mongolia. We analyzed the status of Hardy-Weinberg Equilibrium (HWE), polymorphism information contents (PIC), heterozygosity, allelic diversity, and inbreeding coefficients, using 317 and 1,044 STR (short tandem repeat) markers in Orkhontuul and Dashbalbar populations. HWE assumptions were generally met in most markers (88.6% and 94.2% respectively), and single marker PIC ranged between 0.2 and 0.9. Inbreeding coefficients were estimated to be 0.0023 and 0.0021, which are small enough to assure that conventional genetic analysis would work without any specific modification. We concluded that the population isolates used in GENDISCAN study would not present significant inflation of type I errors from inbreeding effects in its gene discovery analysis.

Comparison of PFGE, IS6110-RFLP, and 24-Locus MIRU-VNTR for Molecular Epidemiologic Typing of Mycobacterium tuberculosis Isolates with Known Epidemic Connections

  • Jeon, Semi;Lim, Nara;Park, Sanghee;Park, Misun;Kim, Seonghan
    • Journal of Microbiology and Biotechnology
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    • v.28 no.2
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    • pp.338-346
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    • 2018
  • Two molecular epidemiologic methods, IS6110 restriction fragment length polymorphism (IS6110-RFLP) and 24-locus mycobacterial interspersed repetitive unit-variable-number tandem repeat (MIRU-VNTR), are used worldwide in studies of Mycobacterium tuberculosis (MTB). Conversely, because of its poor resolution, pulsed-field gel electrophoresis (PFGE) is not widely used for MTB. In this study, we improved the 24-locus MIRU-VNTR and PFGE protocols and compared the effectiveness of these approaches for the molecular typing of MTB using 75 clinical isolates obtained from a cohort investigation of high-risk populations infected with MTB. The 24-locus MIRU-VNTR method demonstrated superior discriminatory ability, followed by PFGE and IS6110-RFLP. Next, we analyzed six isolates with clear epidemiologic connections; that is, isolates from patients who attended the same school. IS6110-RFLP and PFGE identified these samples as the same type. By contrast, according to MIRU-VNTR, two isolates differed from four other isolates at one locus each; one isolate was identified as Mtub29 and the other as QUB-26. In summary, the 24-locus MIRU-VNTR assay was the most useful molecular typing method among the three methods investigated due to its discriminatory power, short time required, and availability as an epidemiologic investigation tool. PFGE was the second-best method. Compared with the other loci assessed in the 24-locus MIRU-VNTR assay, the Mtub29 and QUB-26 loci appeared to exhibit greater variability during transmission.