• Title/Summary/Keyword: genetic markers

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Current Pharmacogenetic Approach for Oxaliplatin-induced Peripheral Neuropathy among Patients with Colorectal Cancer: A Systematic Review (대장암 환자의 옥살리플라틴(oxaliplatin) 유도 말초신경병증에 대한 약물유전학적 접근: 체계적 문헌고찰)

  • Ahn, Soojung;Choi, Soyoung;Jung, Hye Jeong;Chu, Sang Hui
    • Journal of Korean Biological Nursing Science
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    • v.20 no.2
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    • pp.55-66
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    • 2018
  • Purpose: Peripheral neuropathy is common among colorectal cancer (CRC) patients who undergo oxaliplatin-based (OXL) chemotherapy. A pharmacogenetic approach can be used to identify patients at high-risk of developing severe neuropathy. This type of approach can also help clinicians determine the best treatment option and prevent severe neurotoxicity. The purpose of this study is to investigate the evidence of pharmacogenetic markers for OXL-induced peripheral neuropathy (OXIPN) in patients with CRC. Methods: A systematic literature search was conducted using the following databases up to December 2017: Pubmed, EMBASE, and CINAHL. We reviewed the genetic risk factors for OXIPN in observational studies and randomized controlled clinical trials (RCTs). All processes were performed independently by two reviewers. Results: Sixteen studies published in English between 2006 and 2017 were included in this review. A genome-wide association approach was used in one study and various candidate genes were tested, based on their functions (e.g., DNA damage or repair, ion channels, anti-oxidants, and nerve growth etc.). The genes associated with incidence or severity of OXIPN were ABCG2, GSTP1, XRCC1, TAC1, and ERCC1. Conclusion: This study highlighted the need and the importance of conducting pharmacogenetic studies to generate evidence of personalized OXIPN symptoms management. Additional studies are warranted to accelerate the tailored interventions used for OXIPN in patients with CRC (NRF-2014R1A1A3054386).

Analysis of Relationship between Resistance of Brown Planthopper and Traits Related to the Lodging in Rice (벼멸구 저항성과 도복관련 형질과의 관계분석)

  • Kim, Suk-Man;Qin, Yang;Sohn, Jae-Keun
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.55 no.2
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    • pp.105-110
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    • 2010
  • This study was conducted to analyze the relationships between resistance of brown planthopper and traits related to the lodging in rice. For the linkage analysis of traits tested in this study, a genetic linkage map was created with 162 DNA markers spanning 12 rice chromosomes based on 120 doubled haploid (DH) lines, which were derived from a cross between Samgang', a Tongil type cultivar with BPH resistance, and ‘Nagdong’, a japonica cultivar. QTLs were identified to analyze the agronomic traits including lodging by composite interval mapping. Thirteen QTLs were detected for five traits comprised of plant length (PL), 3rd internode length (3rdIL), moments (Mo), lodging index (LI), and breaking weight (BW). The relationships between the BPH resistance and agronomic traits including lodging revealed that two QTLs (qBPR7, qBPR8) were linked to traits related to lodging. Two QTLs, qBPR7 and qBPR8 on chromosome 7 (RM531-7042) and 8 (RM1148- RM544) showed associations with moments and 3rd internode length, respectively.

Direct reprogramming of fibroblasts into diverse lineage cells by DNA demethylation followed by differentiating cultures

  • Yang, Dong-Wook;Moon, Jung-Sun;Ko, Hyun-Mi;Shin, Yeo-Kyeong;Fukumoto, Satoshi;Kim, Sun-Hun;Kim, Min-Seok
    • The Korean Journal of Physiology and Pharmacology
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    • v.24 no.6
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    • pp.463-472
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    • 2020
  • Direct reprogramming, also known as a trans-differentiation, is a technique to allow mature cells to be converted into other types of cells without inducing a pluripotent stage. It has been suggested as a major strategy to acquire the desired type of cells in cell-based therapies to repair damaged tissues. Studies related to switching the fate of cells through epigenetic modification have been progressing and they can bypass safety issues raised by the virus-based transfection methods. In this study, a protocol was established to directly convert fully differentiated fibroblasts into diverse mesenchymal-lineage cells, such as osteoblasts, adipocytes, chondrocytes, and ectodermal cells, including neurons, by means of DNA demethylation, immediately followed by culturing in various differentiating media. First, 24 h exposure of 5-azacytidine (5-aza-CN), a well-characterized DNA methyl transferase inhibitor, to NIH-3T3 murine fibroblast cells induced the expression of stem-cell markers, that is, increasing cell plasticity. Next, 5-aza-CN treated fibroblasts were cultured in osteogenic, adipogenic, chondrogenic, and neurogenic media with or without bone morphogenetic protein 2 for a designated period. Differentiation of each desired type of cell was verified by quantitative reverse transcriptase-polymerase chain reaction/western blot assays for appropriate marker expression and by various staining methods, such as alkaline phosphatase/alizarin red S/oil red O/alcian blue. These proposed procedures allowed easier acquisition of the desired cells without any transgenic modification, using direct reprogramming technology, and thus may help make it more available in the clinical fields of regenerative medicine.

In Vitro Wheat Immature Spike Culture Screening Identified Fusarium Head Blight Resistance in Wheat Spike Cultured Derived Variants and in the Progeny of Their Crosses with an Elite Cultivar

  • Huang, Chen;Gangola, Manu P.;Kutcher, H. Randy;Hucl, Pierre;Ganeshan, Seedhabadee;Chibbar, Ravindra N.
    • The Plant Pathology Journal
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    • v.36 no.6
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    • pp.558-569
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    • 2020
  • Fusarium head blight (FHB) is a devastating fungal disease of wheat (Triticum aestivum L.). The lack of genetic resources with stable FHB resistance combined with a reliable and rapid screening method to evaluate FHB resistance is a major limitation to the development of FHB resistant wheat germplasm. The present study utilized an immature wheat spike culture method to screen wheat spike culture derived variants (SCDV) for FHB resistance. Mycotoxin concentrations determined by liquid chromatography-tandem mass spectrometry (LC-MS/MS) correlated significantly (P < 0.01) with FHB severity and disease progression during in vitro spike culture. Selected SCDV lines assessed for FHB resistance in a Fusarium field disease nursery in Carman, Manitoba, Canada in 2016 showed significant (P < 0.01) correlation of disease severity to the in vitro spike culture screening method. Selected resistant SCDV lines were also crossed with an elite cv. CDC Hughes and the progeny of F2 and BC1F2 were screened by high resolution melt curve (HRM) analyses for the wheat UDP-glucosyl transferase gene (TaUGT-3B) single nucleotide polymorphism to identify resistant (T-allele) and susceptible (G-allele) markers. The progeny from the crosses were also screened for FHB severity using the immature spike culture method and identified resistant progeny grouped according to the HRM genotyping data. The results demonstrate a reliable approach using the immature spike culture to screen for FHB resistance in progeny of crosses in early stage of breeding programs.

Relationship between Virulence and Cultural Characteristics in Calonectria ilicicola (Calonectria ilicicola의 병원성과 배양적 특성간의 상호관계)

  • Kim, K.D.;Russin, J.S.;Snow, J.P.;Valverde, R.A.
    • The Korean Journal of Mycology
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    • v.26 no.3 s.86
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    • pp.387-395
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    • 1998
  • Mycelial growth, production of microsclerotia and perithecia, and presence of double-stranded RNA were examined in Calonectria ilicicola isolates from several hosts to detect morphological and/or genetic markers for comparison with levels of virulence. Variability in disease severity, production of microsclerotia and perithecia, and mycelial growth was observed across all isolates. None of 35 isolates of C. ilicicola examined contained detectable levels of double-stranded RNA. Disease severity on soybean cultivars correlated positively with production of both microsclerotia and perithecia. Mycelial growth correlated negatively with production of perithecia. Virulence on the cultivars and production of microsclerotia and perithecia were greater in isolates of C. ilicicola from soybean than those from peanut. These results suggest that the ability of isolates to produce microsclerotia and perithecia is a component of inoculum potential. Perithecia production may serve as a useful marker for characterizing virulence or host specialization in this homothallic fungus.

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Adenosine Deaminase Gene: Possible Selectable Marker for Tobacco Transformation (연초의 형질전환을 위한 새로운 표지유전자로서 Mouse Adenosine Deaminase 유전자의 이용가능성)

  • 양덕춘;한성수;윤의수
    • Korean Journal of Plant Tissue Culture
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    • v.22 no.4
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    • pp.235-240
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    • 1995
  • The development of selectable markers for transformation has been a major factor in the successful genetic manipulation of plant. We established a new selectable marker system for tobacco transformation using chimeric adenosine deaminase (ADA) gene, which confers resistance to cytotoxic adenosine analogues, 9-$\beta$-D-arabinofuranosyl adenine(Ara-A) and cordycepin. The transformants with the chimeric ADA gene in tobacco grew in the presence of normally lethal level of cytotoxic adenosine analogues, 100 $\mu$M Ara-A and 50 $\mu$M cordycepin. We successfully distinguished transformed shoot from non-transformed shoot on the same selectable media with cytotoxic adenosine analogues. In this selectable media, we were able to select seeds with/ without ADA gene from transgenic tobacco seeds. Theses results show that the mammalian ADA gene may serve as a new selectable marker for tobacco transformation.

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Quantitative Analysis of Cancer-associated Gene Methylation Connected to Risk Factors in Korean Colorectal Cancer Patients

  • Kang, Ho-Jin;Kim, Eun-Jeong;Kim, Byoung-Gwon;You, Chang-Hun;Lee, Sang-Yong;Kim, Dong-Il;Hong, Young-Seoub
    • Journal of Preventive Medicine and Public Health
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    • v.45 no.4
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    • pp.251-258
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    • 2012
  • Objectives: The purpose of this paper was to elucidate the potential methylation levels of adjacent normal and cancer tissues by comparing them with normal colorectal tissues, and to describe the correlations between the methylation and clinical parameters in Korean colorectal cancer (CRC) patients. Methods: Hypermethylation profiles of nine genes (RASSF1, APC, $p16^{INK4a}$, Twist1, E-cadherin, TIMP3, Smad4, COX2, and ABCB1) were examined with 100 sets of cancer tissues and 14 normal colorectal tissues. We determined the hypermethylation at a given level by a percent of methylation ratio value of 10 using quantitative methylation real-time polymerase chain reaction. Results: Nine genes' hypermethylation levels in Korean CRC patient tissues were increased more higher than normal colorectal tissues. However, the amounts of $p16^{INK4a}$ and E-cadherin gene hypermethylation in normal and CRC tissues were not significantly different nor did TIMP3 gene hypermethylation in adjacent normal and cancer tissues differ significantly. The hypermethylation of TIMP3, Ecadherin, ABCB1, and COX2 genes among other genes were abundantly found in normal colorectal tissues. The hypermethylation of nine genes' methylation in cancer tissues was not significantly associated with any clinical parameters. In Cohen's kappa test, it was moderately observed that RASSF1 was related with E-cadherin, and Smad4 with ABCB1 and COX2. Conclusions: This study provides evidence for different hypermethylation patterns of cancer-associated genes in normal and CRC tissues, which may serve as useful information on CRC cancer progression.

Risk of Down syndrome in duodenal atresia and atrioventricular septal defect: Is there an ethnic difference?

  • Lee, Seung Mi;Jun, Jong Kwan;Kim, Hyun-Young;Shin, Seung Han;Park, Jeong Woo;Kim, Min Kyoung;Park, Chan-Wook;Park, Joong Shin
    • Journal of Genetic Medicine
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    • v.17 no.1
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    • pp.16-20
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    • 2020
  • Purpose: Duodenal atresia (DA) and atrioventricular septal defect (AVSD) are well known ultrasonographic findings associated with Down syndrome. The risk of Down syndrome in fetuses with these anomalies has been reported as 30% to 40%. However, on the basis of our clinical experience, the risk of Down syndrome of DA may be lower in Korean population. To clarify this issue, we compared the risk of Down syndrome between cases with DA and AVSD. Materials and Methods: The study population consisted of neonates who were confirmed as DA or AVSD by postnatal diagnosis. Postnatal diagnosis was made by surgery, postnatal echocardiography, or autopsy. Medical record was reviewed retrospectively. Results: A total of 213 neonates with DA or AVSD were included: 67 cases with DA and 146 cases with AVSD. The risk of Down syndrome was 4.5% (3/67) in DA vs. 29.5% (43/146) in AVSD. When confining analysis to those whose karyotyping were not performed during antenatal period, the risk of Down syndrome were 7.9% (3/38) in DA and 35.4% (35/99) in AVSD. Conclusion: The risk of Down syndrome in cases with DA was much lower in Korean population than previously reported risk in the literature. The significance of some antenatal sonographic markers for Down syndrome may be different according to ethnicity.

Paleoseismological implications of liquefaction-induced structures caused by the 2017 Pohang Earthquake

  • Gihm, Yong Sik;Kim, Sung Won;Ko, Kyoungtae;Choi, Jin-Hyuck;Bae, Hankyung;Hong, Paul S.;Lee, Yuyoung;Lee, Hoil;Jin, Kwangmin;Choi, Sung-ja;Kim, Jin Cheul;Choi, Min Seok;Lee, Seung Ryeol
    • Geosciences Journal
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    • v.22 no.6
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    • pp.871-880
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    • 2018
  • During and shortly after the 2017 Pohang Earthquake ($M_w$ 5.4), sand blows were observed around the epicenter for the first time since the beginning of instrumental seismic recording in South Korea. We carried out field surveys plus satellite and drone imagery analyses, resulting in observation of approximately 600 sand blows on Quaternary sediment cover in this area. Most were observed within 3 km of the epicenter, with the farthest being 15 km away. In order to investigate the ground's susceptibility to liquefaction, we conducted a trench study of a 30 m-long sand blow in a rice field 1 km from the earthquake epicenter. The physical characteristics of the liquified sediments (grain size, impermeable barriers, saturation, and low overburden pressure) closely matched the optimum ground conditions for liquefaction. Additionally, we found a series of soft sediment deformation structures (SSDSs) within the trench walls, such as load structures and water-escaped structures. The latter were vertically connected to sand blows on the surface, reflecting seismogenic liquefaction involving subsurface deformation during sand blow formation. This genetic linkage suggests that SSDS research would be useful for identifying prehistoric damage-inducing earthquakes ($M_w$ > 5.0) in South Korea because SSDSs have a lower formation threshold and higher preservational potential than geomorphic markers formed by surface ruptures. Thus, future combined studies of Quaternary surface faults and SSDSs are required to provide reliable paleoseismological information in Korea.

QTL Mapping of Agronomic Traits in an Advanced Backcross Population from a Cross between Oryza sativa L. cv. Milyang 23 and O. glaberrima

  • Kang, Ju-Won;Suh, Jung-Pil;Kim, Dong-Min;Oh, Chang-Sik;Oh, Ji-Min;Ahn, Sang-Nag
    • Korean Journal of Breeding Science
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    • v.40 no.3
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    • pp.243-249
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    • 2008
  • In the previous study, 141 $BC_3F_2$ lines from a cross between the Oryza sativa cv. Milyang 23 and O. glaberrima were used to identify favorable wild QTL alleles for yield component traits. In this study, we carried out QTL analysis of four grain morphology as well as four yield component traits using 141 $BC_3F_5$ lines from the same cross and compared QTLs detected in two different generations. The mean number of O. glaberrima segments in the 141 $BC_3F_5$ lines ranged from 1 to 13 with 2.69 and 5.71 of the average means of homozygous and heterozygous segments, respectively. There was a three-fold difference in the number of QTLs detected for four traits commonly evaluated in two generations (seven QTLs in the $BC_3F_5$ vs 21 in the $BC_3F_2$ population). The percentages of the phenotypic variance explained by QTLs in the BC3F5 population were similar to or less than those in the $BC_3F_2$ population. This is probably due to the difference in the genetic composition of two populations and the environmental effects. The locations of the QTLs commonly detected in both generations were in good agreement except for one QTL for spikelets per panicle. The yield QTL, yd3 was colocalized with the spikelets per panicle, spp3. Yield increase at this locus is due to the increase in spikelets per panicle, because both traits were associated with increase in spikelets per panicle and yield due to the presence of an O. glaberrima allele. Clusters of QTLs for grain morphology traits were observed in two chromosome regions. One cluster harboring five QTLs near SSR markers RM106 and RM263 was detected on chromosome 2. This population would serve as a foundation for development of the introgression line population from a cross between Milyang 23 and O. glaberrima.