• Title/Summary/Keyword: genetic markers

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A Study of Microsatellite Instability in Primary Small Cell Lung Cancers by Microsatellite Analysis (원발성 소세포폐암에서 Microsatellite 분석을 이용한 Microsatellite 불안정화에 대한 연구)

  • Cho, Eun-Song;Chang, Joon;Park, Jae-Min;Shin, Dong-Hwan;Kim, Se-Hoon;Kim, Young-Sam;Chang, Yoon-Soo;Cho, Chul-Ho;Kwak, Seung-Min;Lee, Jun-Gu;Chung, Kyung-Young;Kim, Sung-Kyu;Lee, Won-Young;Kim, Se-Kyu
    • Tuberculosis and Respiratory Diseases
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    • v.48 no.2
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    • pp.180-190
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    • 2000
  • Background: Genomic instability, which is manifested by the replication error(RER) phenotype, has been proposed for the promotion of genetic alterations necessary for carcinogenesis. Merlo et al. reported frequent microsatellite instability in primary small cell lung cancers. However, Kim et al. found that instability occurred in only 1% of the loci tested and did not resemble the replication error-positive phenotype. The significance of microsatellite instability in the tumorigenesis of small cell lung cancer as well as the relationship between microsatellite instability and its clinical prognosis was investigated in our study. Methods: Fifteen primary small cell lung cancers were chosen for this study. The DNAs extracted from paraffin-embedded tissue blocks with primary tumor and corresponding control tissue were investigated. Forty microsatellite markers on chromosome 1p, 2p, 3p, 5q, 6p, 6q, 9p, 9q, 13q, and 17p were used in the microsatellite analysis. Results: Thirteen(86.7%) of 15 tumors exhibited LOH in at least one of the tested microsatellite markers. Three of 13 tumors exhibiting LOH lost a larger area in chromosome 9p. LOH was shown in 72.7% on chromosome 2p, 40% on 3p, 50% on 5q, 46.7% on 9p, 69.2% on 13q, and 66.7% on 17p(Table 1). Nine(60%) of 15 tumors exhibited shifted bands in at least one of the tested microsatellite markers. Nine cases exhibiting shifted bands showed altered loci ranging 2.5~52.5%(mean $9.4%\pm16.19$)(Table 2). Shifted bands occurred in 5.7% (34 of 600) of the loci tested(Table 2). Nine cases with shifted bands exhibited LOH ranging between 0~83.3%, and the median survival duration of those cases was 35 weeks. Six cases without shifted bands exhibited LOH ranging between 0~83.3%, and the median survival duration of those cases was 73 weeks. There was no significant difference between median survival durations of the two groups(p=0.4712). Conclusion: Microsatellite instability as well as the inactivation of several tumor suppressor genes may play important roles in the development and progression process of tumors. However, the relationship between microsatellite instability and its clinical prognosis in primary small cell lung cancer could not be established.

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Linkage Map and Quantitative Trait Loci(QTL) on Pig Chromosome 6 (돼지 염색체 6번의 연관지도 및 양적형질 유전자좌위 탐색)

  • Lee, H.Y.;Choi, B.H.;Kim, T.H.;Park, E.W.;Yoon, D.H.;Lee, H.K.;Jeon, G.J.;Cheong, I.C.;Hong, K.C.
    • Journal of Animal Science and Technology
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    • v.45 no.6
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    • pp.939-948
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    • 2003
  • The objective of this study was to identify the quantitative traits loci(QTL) for economically important traits such as growth, carcass and meat quality on pig chromosome 6. A three generation resource population was constructed from cross between Korean native boars and Landrace sows. A total of 240 F$_2$ animals were produced using intercross between 10 boars and 31 sows of F$_1$ animals. Phenotypic data including body weight at 3 weeks, backfat thickness, muscle pH, shear force and crude protein level were collected from F$_2$ animals. Animals including grandparents(F$_0$), parents(F$_1$) and offspring(F$_2$) were genotyped for 29 microsatellite markers and PCR-RFLP marker on chromosome 6. The linkage analysis was performed using CRI-MAP software version 2.4(Green et al., 1990) with FIXED option to obtain the map distances. The total length of SSC6 linkage map estimated in this study was 169.3cM. The average distance between adjacent markers was 6.05cM. For mapping of QTL, we used F$_2$ QTL Analysis Servlet of QTL express, a web-based QTL mapping tool(http://qtl.cap.ed.ac.uk). Five QTLs were detected at 5% chromosome-wide level for body weight of 3 weeks of age, shear force, meat pH at 24 hours after slaughtering, backfat thickness and crude protein level on SSC6.

Resistance Screening to Pepper mild mottle virus Pathotypes in Paprika Cultivars (고추약한모틀바이러스 병원형에 대한 파프리카 품종의 저항성 스크리닝)

  • Choi, Gug-Seoun;Choi, Seung-Kook;Cho, In-Sook;Kwon, Sun-Jung
    • Research in Plant Disease
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    • v.20 no.4
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    • pp.299-302
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    • 2014
  • The Paprika plant infected with Pepper mild mottle virus (PMMoV) do not produce commercial fruit as causing necrotic spots symptom on the fruit. Ten cultivars of paprika were analyzed to select the resistance cultivars against PMMoV pathotypes, $P_{1.2}$ and $P_{1.2.3}$, using bioassay and genetic markers. $L^1$, $L^3$, and $L^4$ genotypes expressing resistance to the pathotypes existed in those cultivars but $L^2$ genotype did not. $L^4L^4$ in cvs. Easy and Magnifico, $L^4L^3$ in cvs. Scirocco and Orange glory F1, $L^4L^1$ in cv. Special F1, $L^3L^3$ in cvs. Fiesta, Piero and Derby, and $L^3L^1$ in Cupra and Mazzona F1 were identified with SCAR and CAPS markers. The resistant cvs. to the 2 pathotypes were Magnipico, Easy, Scirocco F1, Orange glory and Special F1 and the susceptible cvs. were Fiesta, Piero, Derby, Cupra and Mazzona F1. The susceptible cvs. of the absence of $L^4$ genotype showed systemic infection when inoculated with PMMoV-$P_{1.2.3}$. However, those cvs. despite the presence of $L^3$ genotype showed vein necrosis on the inoculated leaf and hypersensitive necrosis symptom on the upper parts when inoculated with PMMoV-$P_{1.2}$.

QTL Analysis of Seed and Growth Traits using RIL Population in Soybean (콩 종실 및 생육형질 연관 분자표지 탐색)

  • Kim, Jeong-Soon;Song, Mi-Hee;Lee, Janf-Yong;Ahn, Sang-Nag;Ku, Ja-Hwan
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.53 no.1
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    • pp.85-92
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    • 2008
  • An RIL population from a Shinpaldalkong2/GC83006 cross was employed to identify quantitative trait loci (QTL) associated with agronomic traits in soybean. The genetic map consisted of 127 loci which covered about 3,000cM and were assigned into 20 linkage groups. Phenotypic data were collected for the following traits; plant height, leaf area, flowering time, pubescence color, seed coat color and hilum color in 2005. Seed weight was evaluated using seeds collected in 2003 to 2005 at Suwon and in 2005 at Pyeongchang and Miryang sites. Three QTLs were associated with 100-seed weight in the combined analysis across three years. Among the three QTLs related to seed weight, all GC83006 alleles on LG O ($R^2\;=\;12.5$), LG A1 ($R^2\;=\;10.1$) and LG C2 ($R^2\;=\;11.5$) increased the seed weight. A QTL conditioning plant height was linked to markers including Satt134 (LG C2, $R^2\;=\;25.4$), and the GC83006 allele increased plant height at this QTL locus. For two QTLs related to leaf area, 1aM on LG M ($R^2\;=\;10.0$) and laL on LG L ($R^2\;=\;8.6$), the Shinpaldalkong2 alleles had positive effect to increase the leaf area. Satt134 on LG C2 ($R^2\;=\;41.0$) was associated with QTL for days to flowering. Satt134 (LG C2) showed a linkage to a gene for pubescence color. Satt363 (LG C2) and Satt354 (LG I) were linked to the hilum color gene, and Sat077 (LG D1a) was linked to the seed coat color. The QTL conditioning plant height was in the similar genomic location as the QTLs for days to flowering in this population, indicating pleiotropic effect of one gene or the tight linkage of several genes. These linked markers would be useful in marker assisted selection for these traits in a soybean breeding program.

Discrimination of Hanwoo from Holstein and Mixed Beef by DHPLC (변성 고성능 액체 크로마토그래피를 이용한 한우, 젖소 그리고 혼입육의 구분)

  • Ahn, Young-Chang;Cho, Min-Ho;Seo, Jae-Won;Yoon, Il-Kyu;Jung, Duck-Hyun;Lee, Eun-Young;Nam, Youn-Hyoung;Park, Su-Min;Jang, Won-Cheoul
    • Journal of the Korean Chemical Society
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    • v.53 no.6
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    • pp.742-748
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    • 2009
  • In the meat industry, correct breed information in food labeling is required to assure meat quality. Genetic markers provide corroborating evidence to identify breed. We described the development of DNA markers to discriminate between Korean beef cattle (Hanwoo), Holstein, and mixed cow beefs. As most breeds are standardized for coat colour, the melanocortin 1 receptor (MC1R) gene, involved in the regulation of eu/pheomelanins synthesis, has been suggested as marker for breed traceability of products of animal origin. We also designed sex-determining region Y (SRY) gene specific primers for Y chromosome detection. In this study, fragments of MC1R gene and SRY gene were amplified by multiplex-PCR and subjected to digestion by MspA1I restriction endonuclease. Reaction products were analysised by denaturing high performance liquid chromatography (DHPLC). As a result, we identified 6 DHPLC peak types from MC1R gene and SRY gene analysis. DHPLC method showed more sensitive than RFLP method for DNA fragments analysis. Therefore, DHPLC method can apply to identify for Hanwoo, Holstein and mixed beef.

Evaluation of Control Pollination Efficiency and Management Status in Control Pollinated Progeny Populations of Pinus densiflora using Pedigree Analysis based on Microsatellite Markers (소나무 인공교배 차대집단에서 Microsatellite marker 혈통분석을 이용한 인공교배 효율 및 관리상태 평가)

  • Tae-Lim Yeo;Jihun Kim;Dayoung Lee;Kyu-Suk Kang
    • Journal of Korean Society of Forest Science
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    • v.112 no.2
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    • pp.157-172
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    • 2023
  • Controlled pollination (CP) is an important method in tree breeding programs because CP quickly generates desirable genotypes and rapidly maximizes genetic gains. However, few studies have evaluated the efficiency and success rate of CP in the breeding program of Pinus densiflora. To evaluate CP and the management of control pollinated progenies, we used 159 individuals in CB2 × KW40 or KW40 × CB2 populations that were established in 2015. After genotyping microsatellite loci, we estimated whether the number of primers was sufficient or not. Then, we performed pedigree analysis. The result showed that the number of primers was sufficient. By pedigree analysis, we found out that 60 of 159 individuals had been generated by the mating between CB2 and KW40. In the maternity analysis, there was evidence to indicate the possibility of management problems. Therefore, we excluded 54 individuals and repeated the pedigree analysis. In the second analysis, 47 of 105 individuals were generated by the mating between CB2 and KW40. To increase the efficiency of CP in tree breeding programs, several precautions are required. It is necessary to identify the exact clone names of the mother and father trees. In addition, CP processes should be performed properly, including deciding on the schedule of CP and the isolation of female strobili or flowers. Finally, the monitoring of hybrid progenies management after mating is important. Molecular markers should be used to identify the clone names of the mother and father trees and for monitoring post hoc management. This study provides a reference for tree breeding programs for the future control pollination of pine species.

The Associtation between Methylenetetrahydrofolate Reductase Gene Polymorphisms and a Risk of Spontaneously Aborted Embryos (Methylenetetrahydrofolate Reductase(MTHFR) 유전자다형과 자연 유산아 발생의 관련성에 관한 연구)

  • Jeon, Nick-Beom;Ji, Seung Il;Shin, Seung Joo;Cha, Sun Hee;Choi, Dong Hee;Yim, Dong Jin;Park, Sang Hee;Lee, Suman;Lee, Sang Hwa;Ko, Jung Jae;Kim, Nam Keun
    • Clinical and Experimental Reproductive Medicine
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    • v.33 no.1
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    • pp.61-61
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    • 2006
  • Objectives : This study was performed to understand the influence of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotypes on the spontaneously aborted embryos. Methods : DNA was extracted from tissue samples of 95 spontaneously aborted embryos and 100 samples of normal children randomly and 449 samples of normal adults were selected as the controls. MTHFR genotypes were determined by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results : The aborted embryo group had higher frequency of MTHFR 677CC type (p=0.014) and lower 677CT type (p=0.063) than the controlled child group. The frequency of MTHFR 677CT type was drastically lower than that of controlled adult group (p=0.032). In the MTHFR C677T/A1298C combination, 677CC/1298AC genotype of the aborted embryo was significantly higher (p=0.034) than that of controlled child group, but it was not statistically significant in controlled adult group (p=0.063). Conclusion : MTHFR 677CC and MTHFR 677CC/1298AC genotypes may represent genetic markers for the risk of spontaneously aborted embryos at least in Koreans.

Potential of the Quantitative Trait Loci Mapping Using Crossbred Population

  • Yang, Shulin;Zhu, Zhengmao;Li, Kui
    • Asian-Australasian Journal of Animal Sciences
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    • v.18 no.12
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    • pp.1675-1683
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    • 2005
  • In the process of crossbreeding, the linkage disequilibria between the quantitative trait loci (QTL) and their linked markers were reduced gradually with increasing generations. To study the potential of QTL mapping using the crossbred population, we presented a mixed effect model that treated the mean allelic value of the different founder populations as the fixed effect and the allelic deviation from the population mean as random effect. It was assumed that there were fifty QTLs having effect on the trait variation, the population mean and variance were divided to each QTL in founder generation in our model. Only the additive effect was considered in this model for simulation. Six schemes (S1-S6) of crossbreeding were studied. The selection index was used to evaluate the synthetic breeding value of two traits of the individual in the scheme of S2, S4 and S6, and the individuals with high selection index were chosen as the parents of the next generation. Random selection was used in the scheme of S1, S3 and S5. In this study, we premised a QTL explained 40% of the genetic variance was located in a region of 20 cM by the linkage analysis previously. The log likelihood ratio (log LR) was calculated to determine the presence of a QTL at the particular chromosomal position in each of the generations from the fourth to twentieth. The profiles of log LR and the number of the highest log LR located in the region of 5, 10 and 20 cM were compared between different generations and schemes. The profiles and the correct number reduced gradually with the generations increasing in the schemes of S2, S4 and S6, but both of them increased in the schemes of S1, S3 and S5. From the results, we concluded that the crossbreeding population undergoing random selection was suitable for improving the resolution of QTL mapping. Even experiencing index selection, there was still enough variation existing within the crossbred population before the fourteenth generation that could be used to refine the location of QTL in the chromosome region.

Association of SNP Haplotypes at the Myostatin Gene with Muscular Hypertrophy in Sheep

  • Gan, S.Q.;Du, Z.;Liu, S.R.;Yang, Y.L.;Shen, M.;Wang, X.H.;Yin, J.L.;Hu, X.X.;Fei, J.;Fan, J.J.;Wang, J.H.;He, Q.H.;Zhang, Y.S.;Li, N.
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.7
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    • pp.928-935
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    • 2008
  • The myostatin gene of seven important meat (Beltex (Australia), Beltex$\times$Huyang (F1), Meat and Multi-Prolific Chinese Merino Fine Wool, Meat Chinese Merino Fine Wool and Dorper (South Africa)) and non-meat (Huyang and Kazak) sheep breeds was analyzed to study the genetic basis of muscular hypertrophy (double muscling) phenotype in sheep. SNPs, four in regulatory regions and several in the introns in the myostatin gene, were identified, and the former four SNPs were used for further studies. Twelve haplotypes were predicted by PHASE program, of which four main haplotypes (1, 3, 7, 9) were present in 90% of the 364 sheep in the study. Haplotypes 1-4 were mainly present in meat breeds while haplotypes 7 and 9 dominated the non-meat breeds. The association between haplotypes and average daily gain (ADG) was analyzed among 116 sheep with production data, Haplo2 (CGAA) and Haplo8 (TGAA) were identified to have significant (p<0.05) effect on ADG by the model (JMP5.1 software) taking into account the effects of breed, family background, haplotype, birth weight and sex. ADG of these haplotype groups also correlated well (r = 0.82) with hypertrophic phenotype scores. In conclusion, the mutations -956 (T$\rightarrow$C), -41 (C$\rightarrow$A) and 6223 (G$\rightarrow$A) involved in Haplo2 and 8 may be associated with the double-muscling trait by influencing myostatin function and be suitable markers in selecting meat sheep.

Wolbachia-mediated Reproductive Alterations in Arthropod Hosts and its use for Biocontrol Program (볼바키아 세균에 의한 절지동물 기주의 생식적 변화와 생물적방제 프로그램에 이용 방안)

  • Rostami, Elahe;Madadi, Hossein;Abbasipour, Habib;Sivaramakrishnan, Shiva
    • Korean journal of applied entomology
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    • v.55 no.2
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    • pp.177-188
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    • 2016
  • The alpha-proteobacterium Wolbachia is one of the most important intracellular symbionts of arthropods. This Gram-negative bacterium is involved in many biological processes and is currently considered as a potential tool for biological control. Wolbachia is a cytoplasmic bacterium, maternally transferred through generations, and to facilitate its success, it has evolved several strategies that manipulate its host reproductive system to increase the number of infected individuals in the host population. The variety of Wolbachia was first recognized using genes wsp, 16S rRNA, ftsZ, gltA and groEL as molecular markers while strain genotypes of Wolbachia are determined of Multilocus sequence typing (MLST) and sequence of amino acid in region, hyper variable regions (HVRs) in protein WSP. Possible uses of the bacteria and their predominant phenotypes in control programs for agricultural pests and human disease vectors have been considered. Phenotypes are known to induce cytoplasmic incompatibility (CI), parthenogenesis induction (PI), feminization (F) and male killing (MK). Finally, applications of the bacterium in control programs of agricultural and medical insect pests have been discussed.