• 제목/요약/키워드: RS4

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한국 재래계의 HNF4α 유전자 내 SNP와 성장과의 연관성 분석 (Association of SNPs in the HNF4α Gene with Growth Performance of Korean Native Chickens)

  • 양송이;최소영;홍민욱;김훈;곽경록;이효정;정동기;손시환;홍영호;이성진
    • 한국가금학회지
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    • 제45권4호
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    • pp.253-260
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    • 2018
  • $HNF4{\alpha}$ 유전자는 인간의 지질 수송 및 대사에 관여하는 간 전사인자로써, 닭의 지방 축적에 관련된 잠재적 후보유전자로 선정하였다. 선행연구에서 보고된 $HNF4{\alpha}$ 유전자 내 A543G SNP은 외래 육계뿐만 아니라, 외래 육계와 유전적 차이를 가지는 한국 재래계의 생시체중과 생체중에 유의적 연관성을 보인 바 있으나, 해당 SNP의 정확한 위치는 보고된 바 없다. 따라서 본 연구에서는 sequencing을 통하여 A543G SNP의 정확한 위치를 파악하고, A543G SNP의 주변 부위의 한국 재래계의 산육형질에 유의적 연관성이 있는 SNP을 파악하고자 하였다. Genomic DNA는 128수의 한국재래계의 혈액을 이용하여 추출하였으며, PCR 뒤 sequencing에 사용되었다. Sequencing 결과, 증폭범위 내에서 총 14개의 SNP가 탐색되었으며, 이 중 $HNF4{\alpha}$ 유전자의 intron 4 상에서 기존에 보고되지 않은 1개의 새로운 SNP를 발견하였다. 확인된 14개의 SNP 중 rs731246957과 rs736159604가 재래계의 생시체중 및 생체중에 유의적 연관성(P<0.001)을 보였다. rs731246957은 닭의 20번 염색체의 5,566,970번째에 위치하며, 선행논문에서 체중과의 연관성이 보고된 A543G SNP인 것으로 확인되었으며, 기존의 연구결과와 유사한 결과를 얻을 수 있었다. 반면에 선행논문에서 닭의 성장형질과의 연관성이 보고된 적 없는 rs736159604 SNP는 GG 유전자형 그룹이 GA, AA 유전자형 그룹에 비해 꾸준히 높은 체중 관측치를 보였으며, 특히 40주령의 체중은 다른 유전자형 그룹에 비해 약 1.8배 높게 관측되었다. 뿐만 아니라 신규 발견한 SNP의 T allele을 가지는 계군이 G allele을 가지는 계군보다 성장면에서 고능력을 보이는 것을 확인하였다. 따라서 본 연구결과는 한국재래계의 산육형질과 연관된 후보유전자로써 $HNF4{\alpha}$ 유전자의 기초정보를 제공하며, 해당 유전자내 특정 단일염기의 변이가 재래계의 체중 관련 유전자 마커로 유용하게 활용 가능할 것을 시사한다.

Effect of micro-environment in ridge and southern slope on soil respiration in Quercus mongolica forest

  • Lee, Jae-Seok
    • Journal of Ecology and Environment
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    • 제42권4호
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    • pp.210-218
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    • 2018
  • Background: Soil respiration (Rs) is a major factor of the absorption and accumulation of carbon through photosynthesis in the ecosystem carbon cycle. This directly affects the amount of net ecosystem productivity, which affects the stability and sustainability of the ecosystem. Understanding the characteristics of Rs is indispensable to scientifically understand the carbon cycle of ecosystems. It is very important to study Rs characteristics through analysis of environmental factors closely related to Rs. Rs is affected by various environmental factors, such as temperature, precipitation, soil moisture, litter supply, organic matter content, dominant plant species, and soil disturbance. This study was conducted to analyze the effects of micro-topographical differences on Rs in forest vegetation by measuring the Rs on the ridge and southern slope sites of the broadly established Quercus mongolica forest in the central Korean area. Method: Rs, Ts, and soil moisture data were collected at the southern slope and ridge of the Q. mongolica forest in the Mt. Jeombong area in order to investigate the effects of topographical differences on Rs. Rs was collected by the closed chamber method, and data collection was performed from May 2011 to October 2013, except Winter seasons from November to April or May. For collecting the raw data of Rs in the field, acrylic collars were placed at the ridge and southern slope of the forest. The accumulated surface litter and the soil organic matter content (SOMC) were measured to a 5 cm depth. Based on these data, the Rs characteristics of the slope and ridge were analyzed. Results: Rs showed a distinct seasonal variation pattern in both the ridge and southern slope sites. In addition, Rs showed a distinct seasonal variation with high and low Ts changes. The average Rs measurements for the two sites, except for the Winter periods that were not measured, were $550.1\;mg\;CO_2m^{-2}h^{-1}$ at the ridge site and $289.4\;mg\;CO_2m^{-2}h^{-1}$ at the southern slope, a difference of 52.6%. There was no significant difference in the Rs difference between slopes except for the first half of 2013, and both sites showed a tendency to increase exponentially as Ts increased. In addition, although the correlation is low, the difference in Rs between sites tended to increase as Ts increased. SMC showed a large fluctuation at the southern slope site relative to the ridge site, as while it was very low in 2013, it was high in 2011 and 2012. The accumulated litter of the soil surface and the SOMC at the depth range of 0~5 cm were $874g\;m^{-2}$ and 23.3% at the ridge site, and $396g\;m^{-2}$ and 19.9% at the southern slope site. Conclusions: In this study, Rs was measured for the ridge and southern slope sites, which have two different results where the surface litter layer is disturbed by strong winds. The southern slope site shows that the litter layer formed in autumn due to strong winds almost disappeared, and while in the ridge site, it became thick due to the transfer of litter from the southern slope site. The mean Rs was about two times higher in the ridge site compared to that in the southern slope site. The Rs difference seems to be due to the difference in the amount of litter accumulated on the soil surface. As a result, the litter layer supplied to the soil surface is disturbed due to the micro-topographical difference, as the slope and the change of the community structure due to the plant season cause heterogeneity of the litter layer development, which in turn affects SMC and Rs. Therefore, it is necessary to introduce and understand these micro-topographical features and mechanisms when quantifying and analyzing the Rs of an ecosystem.

Single Nucleotide Polymorphisms in the NER Pathway and Clinical Outcome of Patients with Bone Malignant Tumor

  • Sun, Xiao-Hui;Hou, Wen-Gen;Zhao, Hong-Xing;Zhao, Yi-Lei;Ma, Chao;Liu, Ying
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권3호
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    • pp.2049-2052
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    • 2013
  • The effects of polymorphisms in ERCC5, ERCC6, XPC, CCNH and MMS19L on osteosarcoma response to chemotherapy and the survival of the affected patients were assessed. Genotyping of ERCC5, ERCC6, XPC, CCNH and MMS19L was performed by PCR-RFLP assay. The median PFS was 12.8 months, and the median OS was 18.6 months. Individuals carrying homozygous genotypes of ERCC5 rs17655 and ERCC5 rs1047768 were more like to have good response to treatment, while those carrying homozygous genotypes of MMS19L rs29001322 showed poor response. Osteosarcoma patients carrying TT genotype of ERCC5 rs1047768 showed a significantly longer PFS (16.8 months) and OS (21.4 months) than CC genotype, with HRs(95% CI) of 0.31 (0.10-0.93) and 0.32 (0.06-0.97), respectively. Conversely, those with the TT genotype of MMS19L rs29001322 demonstrated shorter PFS and OS, the HRs (95% CI) being 2.23 (1.08-4.15) and 4.62 (1.45-16.08), respectively. Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy.

다양한 식이섬유를 첨가한 프렌치브레드의 품질 특성 (Quality Characteristics of French Bread with Various Dietary Fibers)

  • 신말식;이현주
    • 한국식품조리과학회지
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    • 제22권4호통권94호
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    • pp.477-487
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    • 2006
  • The quality characteristics of dough and French breads containing dietary fibers, which were resistant starches (RS3 and RS4 types) and commercial non-starch polysaccharides (cellulose, pectin and chitosan), were investigated. The pH of the dough containing all dietary fiber except pectin was greater than that of control and was increased with increasing addition level. There was no correlation between pH and the expansion ratio of dough. As the level of added dietary fibers became high, the bread baking loss decreased, and the order of specific bread volume was 5% cellulose < 5% pectin < control bread, with no significant difference in specific volume. When a high level of dietary fibers was added to wheat flour, a complex phase appeared due to the formation between the network structure of additives and wheat gluten, and starch granules were heavily masted by the increased development of gluten-network matrix after the first fermentation like a wide spread net. Comparing the colorimetric changes of breads with the same added ratio (10%) of dietary fibers, the cellulose and RS4 addition breads had lower levels and the pectin-added bread had the highest value in the redness, while the chitosan-added bread had the highest value in the yellowness. Breads with a high level of dietary fibers showed increased hardness, gumminess, and brittleness and decreased springiness and cohesiveness. By sensory data, breads with 5% NSP and 10% RS addition showed high overall acceptability, with higher sensory RS score, compared to NSP addition. In conclusion, it was suggested that bread with lower than 10% RS or 5% NSP addition based on the amount of wheat flour, was acceptable with no considerable change in preference/overall quality and processing in bread-making.

The rs61764370 Functional Variant in the KRAS Oncogene is Associated with Chronic Myeloid Leukemia Risk in Women

  • Gutierrez-Malacatt, Humberto;Ayala-Sanchez, Manuel;Aquino-Ortega, Xochitl;Dominguez-Rodriguez, Jacqueline;Martinez-Tovar, Adolfo;Olarte-Carrillo, Irma;Martinez-Hernandez, Angelica;Cecilia, Contreras-Cubas C;Orozco, Lorena;Cordova, Emilio J
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권4호
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    • pp.2265-2270
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    • 2016
  • Background: Chronic myeloid leukemia (CML) is one of the most frequent hematopoietic malignancies in the elderly population; however, knowledge is limited regarding the genetic factors associated with increased risk for CML. Polymorphisms affecting microRNA (miRNA) biogenesis or mRNA:miRNA interactions are important risk factors in the development of different types of cancer. Thus, we carried out a case-control study to test the association with CML susceptibility of gene variants located in the miRNA machinery genes AGO1 (rs636832) and GEMIN4 (rs2740348), as well as in the miRNA binding sites of the genes BRCA1 (rs799917) and KRAS (rs61764370). Materials and Methods: We determined the genotype of 781 Mexican-Mestizo individuals (469 healthy subjects and 312 CML cases) for the four polymorphisms using TaqMan probes to test the association with CML susceptibility. Results: We found a borderline association of the minor homozygote genotype of the KRAS_rs61764370 polymorphism with an increased risk for CML susceptibility (P = 0.06). After gender stratification, this association was significant only for women (odds ratio [OR] = 13.41, P = 0.04). The distribution of the allelic and genotypic frequencies of the four studied SNPs was neither associated with advanced phases of CML nor treatment response. Conclusions: To the best of our knowledge, this study is the first to show a significant association of the KRAS_rs61764370 SNP with CML. To further determine such an association of with CML susceptibility, our results must be replicated in different ethnic groups.

천단변위의 x-Rs 관리도 분석을 이용한 터널 막장 전방 단층대 예측 (Prediction of fault zone ahead of tunnel face using x-Rs control chart analysis for crown settlement)

  • 윤현석;서용석;김광염
    • 한국터널지하공간학회 논문집
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    • 제16권4호
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    • pp.361-372
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    • 2014
  • 터널 변위 계측은 전방의 단층대의 예측과 안정성 해석에서 매우 중요하다. 본 연구에서는 3차원 유한요소해석을 통해 터널 단층대의 방향과 존재에 따른 터널의 거동 특성을 평가하였다. 터널의 거동을 대표하는 계측치인 천단변위를 막장면에서 5 m 떨어진 지점에서 평가하였으며, 경향선과 L/C비 (종방향변위/천단변위)를 계산하여 통계적 관리기법인 x-Rs를 적용하여 단층대의 예측방안을 제시하였다. 결과적으로, x-Rs 관리도 기법이 전방 단층대의 존재와 방향을 예측하는데 활용될 수 있음을 확인하였다.

Investigation of gene-gene interactions of clock genes for chronotype in a healthy Korean population

  • Park, Mira;Kim, Soon Ae;Shin, Jieun;Joo, Eun-Jeong
    • Genomics & Informatics
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    • 제18권4호
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    • pp.38.1-38.9
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    • 2020
  • Chronotype is an important moderator of psychiatric illnesses, which seems to be controlled in some part by genetic factors. Clock genes are the most relevant genes for chronotype. In addition to the roles of individual genes, gene-gene interactions of clock genes substantially contribute to chronotype. We investigated genetic associations and gene-gene interactions of the clock genes BHLHB2, CLOCK, CSNK1E, NR1D1, PER1, PER2, PER3, and TIMELESS for chronotype in 1,293 healthy Korean individuals. Regression analysis was conducted to find associations between single nucleotide polymorphism (SNP) and chronotype. For gene-gene interaction analyses, the quantitative multifactor dimensionality reduction (QMDR) method, a nonparametric model-free method for quantitative phenotypes, were performed. No individual SNP or haplotype showed a significant association with chronotype by both regression analysis and single-locus model of QMDR. QMDR analysis identified NR1D1 rs2314339 and TIMELESS rs4630333 as the best SNP pairs among two-locus interaction models associated with chronotype (cross-validation consistency [CVC] = 8/10, p = 0.041). For the three-locus interaction model, the SNP combination of NR1D1 rs2314339, TIMELESS rs4630333, and PER3 rs228669 showed the best results (CVC = 4/10, p < 0.001). However, because the mean differences between genotype combinations were minor, the clinical roles of clock gene interactions are unlikely to be critical.

rs2rs2titi 유전자형을 가진 노란 콩 계통 선발 (Selection of rs2rs2titi Soybean Genotype with Yellow Seed Coat)

  • 최상우;박준현;정종일
    • 생명과학회지
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    • 제28권11호
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    • pp.1285-1289
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    • 2018
  • 콩[Glycine max (L.) Merr.]은 한반도와 남만주 및 중국일대가 원산지로 예로부터 식물성 단백질과 지방을 얻기 위하여 아시아 지역에서 많이 재배되었다. 최근에는 다양한 기능성 성분들이 발견됨에 따라 단순한 양질의 단백질 공급원의 역할을 넘어 건강 기능성 식품으로 주목받고 있지만 기능성과 가공 적성 및 품질을 저해시키는 성분들도 다수 존재한다. 본 연구는 콩 및 콩 제품의 품질과 기능성을 떨어뜨리는 성분인 Kunitz Trypsin Inhibitor(KTI) 단백질이 없으면서 난소화성 올리고당인 stachyose 함량이 낮은 rs2rs2titi 유전자형을 가진 노란 콩 계통을 선발하기 위하여 진행되었다. Jinyangkong ${\times}$ 15G1의 조합으로 얻어진 육종집단으로부터 rs2rs2titi 유전자형을 가진 4개의 계통(603-1, 603-2, 625, 694)을 선발하였다. 선발된 4개의 계통 $F_5$ 성숙 종자에서 KTI 단백질은 없었으며 초장은 64~66 cm, 백립중은 26.1~29.2 g으로 대립이었으며 종피색과 제색은 모두 노란색이었다. 선발계통의 stachyose 함량은 3.09~3.50 g/kg으로 RS2RS2 유전자형을 가진 대조품종들의 stachyose 함량 13.02~16.81 g/kg보다 매우 낮았다. 본 연구를 통하여 선발된 계통들은 Kunitz Trypsin Inhibitor (KTI) 단백질이 없으면서 난소화성 올리고당인 stachyose의 함량이 낮은 고품질 기능성 노란 콩 품종육성을 위한 중간모본으로 이용될 수 있을 것으로 사료된다.

Novel Genetic Variants Associated with Lumbar Spondylosis in Koreans : A Genome-Wide Association Study

  • Kim, Hyun Ah;Heo, Seong Gu;Park, Ji Wan;Jung, Young Ok
    • Journal of Korean Neurosurgical Society
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    • 제61권1호
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    • pp.66-74
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    • 2018
  • Objective : The aim of this study was to identify the susceptibility genes responsible for lumbar spondylosis (LS) in Korean patients. Methods : Data from 1427 subjects were made available for radiographic grading and genome wide association studies (GWAS) analysis. Lateral lumbar spine radiographs were obtained and the various degrees of degenerative change were semi-quantitatively scored. A pilot GWAS was performed using the AffymetrixGenome-Wide Human single-nucleotide polymorphisms (SNPs), 500K array. A total of 352228 SNPs were analyzed and the association between the SNPs and case-control status was analyzed by stepwise logistic regression analyses. Results : The top 100 SNPs with a cutoff p-value of less than $3.7{\times}10^{-4}$ were selected for joint space narrowing, while a cutoff p-value of $6.0{\times}10^{-4}$ was applied to osteophytes and the Kellgren-Lawrence (K-L) osteoarthritis grade. The SNPs with the strongest effect on disc space narrowing, osteophytes, and K-L grade were serine incorporator 1 (rs155467, odds ratio [OR]=17.58, $p=1.6{\times}10^{-4}$), stromal interaction molecule 2 (STIM1, rs210781, OR=5.53, $p=5{\times}10^{-4}$), and transient receptor potential cation channel, subfamily C (rs11224760, OR=3.99, $p=4.8{\times}10^{-4}$), respectively. Leucine-rich repeat-containing G protein-coupled receptor 4 was significantly associated with both disc space narrowing and osteophytes (rs1979400, OR=2.01, $p=1.1{\times}10^{-4}$ for disc space narrowing, OR=1.79, $p=3{\times}10^{-4}$ for osteophytes), while zinc finger and BTB domain containing 7C was significantly and negatively associated with both osteophytes and a K-L grade >2 (rs12457004,OR=0.25, $p=5.8{\times}10^{-4}$ and OR=0.27, $p=5.3{\times}10^{-4}$, respectively). Conclusion : We identified SNPs that potentially contribute to the pathogenesis of LS. This is the first report of a GWAS in an Asian population.

The Correlation between Deviation Indexes of Ryodoraku and Acute Stress in Patients with Functional Dyspepsia

  • Eom, Guk-Hyeon;Lee, Joon-Suk;Kim, Hyun-Kyung;Lee, Seon-Young;Hur, Won-Young;Kim, So-Yeon;Kim, Jin-Sung;Ryu, Bong-Ha;Yoon, Sang-Hyub
    • 대한한의학회지
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    • 제27권4호
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    • pp.142-149
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    • 2006
  • Objectives : The aim of this study was to investigate the relationship between stress type and Ryodoraku score (RS) in patients with functional dyspepsia. Methods : 92 (30 male, 62 female) patients with functional dyspepsia were included in this study. Degree of stress was evaluated by GARS and BEPSI scale which can assess acute and chronic stress, respectively. RS of the patients was measured, and mean, sum of gaps and standard deviation (SD) in their RS were taken. First, patients were divided into two groups by sex, and by mean RS $40{\mu}A$ (above and below). GARS and BEPSI scale of each group was compared. Second, correlation between stress scales (GARS and BEPSI) and variation indexes of RS (sum of gaps and SD) was examined. Result : 1. The mean RS is higher in male patients than in female ones. 2. No significant difference was noted in GARS and BEPSI scale associated with above end below the mean $40{\mu}A$ RS. 3. The sum of gaps and SD of RS has significant correlation with GARS scale but not with BEPSI scale. Conclusions : These results suggest that the sum of gaps and SD of RS are associated with acute stress in patients with functional dyspepsia. Thus, it is thought that RS can be useful in assessing acute stress in patients with functional dyspepsia.

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