• Title/Summary/Keyword: SNP

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Association of the RORA Gene Polymorphism and Diurnal Preference in a Young Korean Population (RORA 유전자 다형성과 한국인 젊은 성인에서 일중선호도와의 연관성)

  • Ju, Hoon;Cho, Chul-Hyun;Moon, Joung Ho;Kim, Leen;Lee, Heon-Jeong
    • Sleep Medicine and Psychophysiology
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    • v.23 no.1
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    • pp.25-28
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    • 2016
  • Objectives: The retinoid-related orphan receptor A (RORA) gene has been reported to have an impact on circadian rhythm regulation. In this study, we analyzed the relationship between the RORA gene polymorphism and diurnal preference in Korean young adults. Methods: A population of 504 young adults was included in the study. All subjects were given and completed a 13-item composite scale for morningness (CSM). The RORA gene rs11071547 single-nucleotide polymorphism (SNP) was genotyped by PCR-based methods. Results: CSM score was not associated with genotype or allele carrier status of the RORA rs11071547 SNP. Conclusion: This result indicates that the RORA rs11071547 SNP does not play a role in diurnal preference.

Development of a single-nucleotide-polymorphism marker for specific authentication of Korean ginseng (Panax ginseng Meyer) new cultivar "G-1"

  • Yang, Dong-Uk;Kim, Min-Kyeoung;Mohanan, Padmanaban;Mathiyalagan, Ramya;Seo, Kwang-Hoon;Kwon, Woo-Saeng;Yang, Deok-Chun
    • Journal of Ginseng Research
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    • v.41 no.1
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    • pp.31-35
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    • 2017
  • Background: Korean ginseng (Panax ginseng) is a well-known medicinal plant of Oriental medicine that is still in practice today. Until now, a total of 11 Korean ginseng cultivars with unique features to Korean ginseng have been developed based on the pure-line-selection method. Among them, a new cultivar namely G-1 with different agricultural traits related to yield and content of ginsenosides, was developed in 2012. Methods: The aim of this study was to distinguish the new ginseng cultivar G-1 by identifying the unique single-nucleotide polymorphism (SNP) at its 45S ribosomal DNA and Panax quinquefolius region than other Korean ginseng cultivars using multiplex amplification-refractory mutation system-polymerase chain reaction (ARMS-PCR). Results: A SNP at position of 45S ribosomal DNA region between G-1, P. quinquefolius, and the other Korean ginseng cultivars was identified. By designing modified allele-specific primers based on this site, we could specifically identified G-1 and P. quinquefolius via multiplex PCR. The unique primer for the SNP yielded an amplicon of size 449 bp in G-1 cultivar and P. quinquefolius. This study presents an effective method for the genetic identification of the G-1 cultivar and P. quinquefolius. Conclusion: The results from our study shows that this SNP-based approach to identify the G-1 cultivar will be a good way to distinguish accurately the G-1 cultivar and P. quinquefolius from other Korean ginseng cultivars using a SNP at 45S ribosomal DNA region.

Involvement of Caspases and Bcl-2 Family in Nitric Oxide-Induced Apoptosis of Rat PC12 Cells

  • Jeong, Yeon-Jin;Jung, Ji-Yeon;Lee, Jin-Ha;Cho, Jin-Hyoung;Lee, Guem-Sug;Kim, Sun-Hun;Kim, Won-Jae
    • The Korean Journal of Physiology and Pharmacology
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    • v.10 no.6
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    • pp.329-335
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    • 2006
  • This study was aimed to investigate the nitric oxide (NO)-induced cytotoxic mechanism in PC12 cells. Sodium nitroprusside (SNP), an NO donor, decreased the viability of PC12 cells in dose-and time-dependent manners. SNP enhanced the production of reactive oxygen species (ROS), and gave rise to apoptotic morphological changes including cell shrinkage, chromatin condensation, and DNA fragmentation. Expression of Bax was not affected, whereas Bcl-2 was downregulated in SNP-treated PC12 cells. SNP augmented the release of cytochrome c from mitochondria into cytosol and enhanced caspase -8, -9, and -3 activities. SNP upregulated both Fas and Fas-L, which are known to be components of death receptor assembly. These results suggest that NO induces apoptosis of PC12 cells through both mitochondria-and death receptor-mediated pathways mediated by ROS and Bcl-2 family.

Genome-wide association study identifies positional candidate genes affecting back fat thickness trait in pigs

  • Lee, Jae-Bong;Kang, Ho-Chan;Kim, Eun-Ho;Kim, Yoon-Joo;Yoo, Chae-Kyoung;Choi, Tae-Jeong;Lim, Hyun-Tae
    • Korean Journal of Agricultural Science
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    • v.45 no.4
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    • pp.707-713
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    • 2018
  • This study was done to search for positional candidate genes associated with the back fat thickness trait using a Genome-Wide Association Study (GWAS) in purebred Yorkshires (N = 1755). Genotype and phenotype analyses were done for 1,642 samples. As a result of the associations with back fat thickness using the Gemma program (ver. 0.93), when the genome-wide suggestive threshold was determined using the Bonferroni method ($p=1.61{\times}10^{-5}$), the single nucleotide polymorphism (SNP) markers with suggestive significance were identified in 1 SNP marker on chromosome 2 (MARC0053928; $p=3.65{\times}10^{-6}$), 2 SNP markers on chromosome 14 (ALGA0083078; $p=7.85{\times}10^{-6}$, INRA0048453; $p=1.27{\times}10^{-5}$), and 1 SNP marker on chromosome 18 (ALGA0120564; $p=1.44{\times}10^{-5}$). We could select positional candidate genes (KCNQ1, DOCK1, LOC106506151, and LOC110257583), located close to the SNP markers. Among these, we identified a potassium voltage-gated channel subfamily Q member gene (KCNQ1) and the dedicator of cytokinesis 1 (DOCK1) gene associated with obesity and Type-2 diabetes. The SNPs and haplotypes of the KCNQ1 and DOCK1 genes can contribute to understanding the genetic structure of back fat thickness. Additionally, it may provide basic data regarding marker assisted selection for a meat quality trait in pigs.

Pathway enrichment and protein interaction network analysis for milk yield, fat yield and age at first calving in a Thai multibreed dairy population

  • Laodim, Thawee;Elzo, Mauricio A.;Koonawootrittriron, Skorn;Suwanasopee, Thanathip;Jattawa, Danai
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.4
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    • pp.508-518
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    • 2019
  • Objective: This research aimed to determine biological pathways and protein-protein interaction (PPI) networks for 305-d milk yield (MY), 305-d fat yield (FY), and age at first calving (AFC) in the Thai multibreed dairy population. Methods: Genotypic information contained 75,776 imputed and actual single nucleotide polymorphisms (SNP) from 2,661 animals. Single-step genomic best linear unbiased predictions were utilized to estimate SNP genetic variances for MY, FY, and AFC. Fixed effects included herd-year-season, breed regression and heterosis regression effects. Random effects were animal additive genetic and residual. Individual SNP explaining at least 0.001% of the genetic variance for each trait were used to identify nearby genes in the National Center for Biotechnology Information database. Pathway enrichment analysis was performed. The PPI of genes were identified and visualized of the PPI network. Results: Identified genes were involved in 16 enriched pathways related to MY, FY, and AFC. Most genes had two or more connections with other genes in the PPI network. Genes associated with MY, FY, and AFC based on the biological pathways and PPI were primarily involved in cellular processes. The percent of the genetic variance explained by genes in enriched pathways (303) was 2.63% for MY, 2.59% for FY, and 2.49% for AFC. Genes in the PPI network (265) explained 2.28% of the genetic variance for MY, 2.26% for FY, and 2.12% for AFC. Conclusion: These sets of SNP associated with genes in the set enriched pathways and the PPI network could be used as genomic selection targets in the Thai multibreed dairy population. This study should be continued both in this and other populations subject to a variety of environmental conditions because predicted SNP values will likely differ across populations subject to different environmental conditions and changes over time.

A Design of Gene-based Nutritional and Exercise Management Service (유전자 기반 영양 관리 및 운동 관리 서비스 설계)

  • Lee, Hye-In;Park, Ju-Yeong;Kim, Young-Hwa;Kim, Hee-Cheol;Huh, Gyung-Hye
    • Proceedings of the Korean Institute of Information and Commucation Sciences Conference
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    • 2019.05a
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    • pp.518-520
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    • 2019
  • As life expectancy has increased, health status becomes an important factor on life. The Fourth Industrial Revolution has led to the development of a variety of healthcare devices and applications that make it easier and more convenient to manage health. In particular, the area of individual genetic analysis with Single Nucleotide Polymorphism (SNP) has expanded, and genetic information is used to treat and prevent diseases according to individual differences. This study analyzes the genetic information of individuals, that is, SNP variant, and identifies specific chronic disease risk groups such as obesity, diabetes and hypertension. After then we will propose a customized nutrition information service. In addition the service of regional exercise management will be provided, to encourage exercise based on walking courses and sports center information in residential areas. Based on the GPS, it will design the service of exercise management that can encourage exercise by providing walking course and sports center information in the residential area.

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Can silver diamine fluoride or silver nanoparticle-based anticaries agents to affect enamel bond strength?

  • Jaqueline Costa Favaro ;Yana Cosendey Toledo de Mello Peixoto ;Omar Geha ;Flaviana Alves Dias ;Ricardo Danil Guiraldo ;Murilo Baena Lopes ;Sandrine Bittencourt Berger
    • Restorative Dentistry and Endodontics
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    • v.46 no.1
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    • pp.7.1-7.8
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    • 2021
  • Objectives: The aim of the current study is to investigate the effect of different anticaries agents, such as experimental agents based on silver nanoparticles (SNPs) and silver diamine fluoride (SDF), on the micro-shear bond strength (μ-SBS) of composite resin applied to intact enamel (IE) or demineralized enamel (DE). Materials and Methods: Sixty dental enamel fragments were collected from human third molars and categorized into 6 groups (n = 10): positive control (IE), negative control (DE), IE + SDF, DE + SDF, IE + SNP and DE + SNP. Samples from DE, DE + SDF and DE + SNP groups were subjected to pH cycling; superficial microhardness test was performed to confirm demineralization. Resin composite build-ups were applied to the samples (0.75-mm diameter and 1-mm height) after the treatments (except for IE and DE groups); μ-SBS was also evaluated. Samples were analyzed under a stereomicroscope at 40× magnification to identify failure patterns. Data were subjected to one-way analysis of variance, followed by Tukey's and Dunnett's tests (p < 0.05). Results: There was no significant difference among the IE, IE + SNP, DE + SDF, and DE + SNP groups. The IE + SDF and DE groups recorded the highest and the lowest μ-SBS values, respectively. Adhesive-type failures were the most frequent for all treatments. Conclusions: Anticaries agents did not have a negative effect on the μ-SBS of composite resin when it was used on IE or DE.

Development of targeted amplicon next-generation sequencing panel of 50 SNPs related to externally visible characteristics and behavior (외형 및 행동 습관 관련 50개 SNP 마커 분석을 위한 targeted amplicon next-generation sequencing 패널 개발)

  • Hee-Yeon Park;Yoonji Noh;Eung-Soo Kim;Hyun-Chul Park
    • Analytical Science and Technology
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    • v.37 no.3
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    • pp.189-199
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    • 2024
  • In forensic genetics, when it is not possible to confirm an individual's identity through STR profile analysis, additional information about the individual can be obtained using DNA-based phenotypic traits estimation. Recently, various researches have been conducted on methods to determine externally visible characteristics (EVC) such as eyes, hair, and skin color. However, relying solely on such phenotypic traits information has limitations for application in East Asian regions, including Korea. In this study, in order to utilize EVC related to an individual's appearance as investigative information, SNPs related to eye shape, hair thickness, skin color, as well as baldness, body type, high myopia, facial shape, acne, and behavioral habits were explored. A total of 50 SNPs were selected, and a targeted amplicon NGS panel capable of amplifying them all at once was developed. Experimental results confirmed the allelic types and frequencies of the 50 SNPs in 14 samples. We plan to use this panel to investigate the correlation between genotype and phenotype using various samples, and to develop methods for interpreting the results.

Improvement of Selection Efficiency for Bacterial Blight Resistance Using SNP Marker in Rice (SNP 마커를 이용한 벼 흰잎마름병 저항성 선발 효율 증진)

  • Shin, Woon-Chul;Baek, So-Hyeon;Seo, Chun-Sun;Kang, Hyeon-Jung;Kim, Chung-Kon;Shin, Mun-Sik;Lee, Gang-Seob;Hahn, Jang-Ho;Kim, Hyun-Soon
    • Journal of Plant Biotechnology
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    • v.33 no.4
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    • pp.309-313
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    • 2006
  • Discovery of single nucleotide polymorphisms (SNPs), including small insertions and deletions, is one of the hot topics in genetic research. The most common type of sequence variant consists of single base differences or small insertions and deletions at specific nucleotide positions. Significance of SNPs in rice is increasing for genetic research, positional cloning and molecular breeding. $F_2$ 170 lines and $F_3$ 194 lines derived from Sangjuchalbyeo/HR13721-53-3-1-3-3-2-2 Were used for Searching SNP markers related to bacterial blight resistance. Sangjuchalbyeo is susceptible to bacterial blight, but HR13721-53-3-1-3-3-2-2 has Xa1 gene resistant to bacterial blight. Individual lines were inoculated with $K_1$ race of bacterial blight and resistant or susceptible was evaluated after 3 weeks from inoculation. The genotypes of population were analysed by PCR-RFLP for SNP marker developing. The segregation of $F_2\;and\;F_3$ population showed almost 3:1, 1:1 ratio, respectively. Analysis of genotype using SNP marker is capable of confirming resistance for $K_1$ race and genotype through amplifying the gene using 16PFXal primer and digested the PCR product with Eco RV. There were close relation between resistance test for $K_1$ race and SNP marker genotype. Especially, DNA analysis using SNP marker is capable of judging homozygote/heterozygote in $F_2$ population compared with resistant test for Kl race. So, it seems to improve the selection efficiency in disease resistant breeding.

A Comparison of Discriminating Powers between 13 Microsatellite Markers and 37 Single Nucleotide Polymorphism Markers for the Use of Pork Traceability and Parentage Test of Pigs (돼지 개체식별 및 친자감별을 위한 13 microsatellite marker와 37 single nucleotide polymorphism marker 간의 효율성 비교)

  • Lee, Jae-Bong;Yoo, Chae-Kyoung;Jung, Eun-Ji;Lee, Jung-Gyu;Lim, Hyun-Tae
    • Journal of agriculture & life science
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    • v.46 no.5
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    • pp.73-82
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    • 2012
  • Allele information from the analysis of the 13 microsatellite (MS) markers, were classified into the $F_0$, $F_1$ and $F_2$ generations, and probabilities of the same individual emergency in each generation was calculated. As a result, the 13 MS markers showed an estimate of $3.84{\times}10^{-23}$ on the premise of the randomly mated group of $F_2$, which implies that the same individuals may emerge by the use of 37 kinds of SNP markers. In this study, the experimental pigs were intercross between only 2 breeds (Korean native pig and Landrace). In addition, the success rate of paternity tests was analyzed on the whole group, by the use of the 13 MS markers and 37 SNP markers. As regards the exclusionary power of the second parent ($PE_{pu}$), MS markers and SNP markers showed 0.97897 and 0.99149, respectively. In relation to the parent exclusion power of both parent (PE), MS markers and SNP markers showed 0.99916 and 0.99949, respectively. In the case of the estimate to identify parental candidates that had the highest probability ($PNE_{pp}$), the two showed 1.00000 all. The Korean pig industry tends to mass produce hogs with limited numbers of alleles in limited parents. Such being the case, there is a need to organize a marker, for which it is imperative to find markers with high efficiency and high economic feasibility of the characteristics of DNA markers, sample size, the accuracy and expenses of genotyping cost, the manageability of data and the compatibility among analysis systems.