• 제목/요약/키워드: genetic background

검색결과 738건 처리시간 0.025초

국내 간호사의 유전성 유방암에 대한 지식정도 조사연구 (The Knowledge of Hereditary Breast Cancer in Korean Nurses)

  • 최경숙;소향숙;태영숙;은영;서순림;이우숙;정혜선;김연희;주명순;이유미;정지영;김광호;전명희
    • 한국간호교육학회지
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    • 제12권2호
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    • pp.272-279
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    • 2006
  • Background: After Genome project, cancer genetic information is being rapidly changing. Everyday nurses are incorporating current cancer genetic knowledge and genetic testing into their practice. So their cancer genetic knowledge is important for ensuring quality of cancer patient care and education. Purpose: This study is performed for describing the Korean nurses' current knowledge level about the hereditary breast cancer. Method: This national wide survey used 15-item questionnaire which is modified from the Breast Cancer Genetic Counseling Knowledge Questionnaire originally developed by Erblich et al.(2005). Three hundred and nine nurses were recruited for this survey from April 1, 2006 to September 30, 2006. Result: Nurses' knowledge level about the hereditary breast cancer was not high. Clinical nurses with master degree, working large hospital located in Seoul had higher knowledge about hereditary breast cancer. Education related to cancer genetics was significantly impact on the level of nurses' knowledge. Conclusion: Cancer genetic educational program for Korean nurses is strongly needed for delivering cancer care services sensitive to ever-changing cancer genetic information.

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Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome

  • Dayun Kang;Hwa Young Kim;Jong-Hee Chae;Jung Min Ko
    • Journal of Genetic Medicine
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    • 제19권2호
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    • pp.85-93
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    • 2022
  • Purpose: Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder caused by genetic variants of the cohesin complex. However, the diverse genetic etiologies and their phenotypic correlations in Korean patients with CdLS are still largely unknown. Hence, this study aimed to clarify the clinical characteristics and genetic background of Korean patients with CdLS. Materials and Methods: The medical records of 15 unrelated patients (3 males and 12 females) genetically confirmed to have CdLS were retrospectively reviewed. All individuals were diagnosed with CdLS using target gene analysis, whole-exome sequencing, and/or chromosomal microarray analysis. The clinical score (CS) was calculated to assess disease severity. Results: The median age at diagnosis was 1.7 (range, 0.0-11.8) years, and median follow-up duration was 3.8 (range, 0.4-11.7) years. Eight (53.3%) patients showed classic phenotypes of CdLS, two (13.3%) showed non-classic phenotypes, and five (33.3%) had other phenotypes sharing limited signs of CdLS. Fifteen causative variants were identified: NIPBL in five (33.3%, including 3 males), SMC1A in three (20.0%), SMC3 in three (20.0%), and HDAC8 in four (26.7%) patients. The CS was significantly higher in the NIPBL group than in the non-NIPBL group (14.2±1.3 vs. 8.7±2.9, P<0.001). Conclusion: We identified the clinical and genetic heterogeneity of CdLS in Korean patients. Patients with variants of NIPBL had a more distinctive phenotype than those carrying variants of other cohesin complex genes (SMC1A, SMC3, and HDAC8). However, further studies are warranted to understand the pathogenesis of CdLS as a cohesinopathy and its genotype-phenotype correlations.

Molecular identification of fruit bats, natural host of Nipah virus in Bangladesh, based on DNA barcode

  • Md. Maharub Hossain Fahim;Walid Hassan;Afia Afsin;Md. Mahfuzur Rahman;Md. Tanvir Rahman;Sang Jin Lim;Yeonsu Oh;Yung Chul Park;Hossain Md. Faruquee;Md. Mafizur Rahman
    • Journal of Ecology and Environment
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    • 제48권2호
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    • pp.163-172
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    • 2024
  • Background: Fruit bats are natural carriers of Nipah virus (NiV). The primary objective of this study is to identify potential reservoir species in a selected geographic regions. It is necessary to determine an accurate species identification of the associated reservoir bat species distributed in a specific region. Results: In this study, we collected 20 different bat specimens from the NiV-prone area of the Kushtia district. Among these, 14 were tissue samples (BT-1-14) and six were fecal samples (BF-1-6). We used the mitochondrial gene cytochrome b, one of the most abundant and frequently used genetic markers, for polymerase chain reaction amplification and sequencing. Out of the 20 samples, 12 tissue samples and 2 fecal samples were successfully amplified and sequenced. However, two tissue samples and four fecal samples yielded chimeric sequences, rendering them unsuitable for annotation. The sequences of the successfully amplified samples were compared to those deposited in the National Center for Biotechnology Information database using basic local alignment search tool to identify the bat specimen collected. The study identified six different bat species using both morphological and genetic data, which may carriers of the NiV. Conclusions: Our results suggest that additional research should be conducted to gather more information on fruit bats from different localities across the country. The study contributes to the establishment of appropriate measures for NiV carrying disease control and management.

Tracing the origin of fish without hatchery information: genetic management of stock enhancement for mangrove red snapper (Lutjanus argentimaculatus) in Taiwan

  • Hsu, Te-Hua;Huang, Chang-Wen;Lin, Cheng-Hui;Lee, Hung-Tai;Pan, Chieh-Yu
    • Fisheries and Aquatic Sciences
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    • 제23권5호
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    • pp.13.1-13.7
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    • 2020
  • Stock enhancement is considered to be a valuable approach for restoring fishery resources. Because no specific official institution in Taiwan is responsible for the production of fry, the released fry are purchased directly from the private sector. However, fishermen from the private industry have not established a genetic background, so the genetic composition for each batch of released fry is unclear. Mangrove red snapper (Lutjanus argentimaculatus), a prominent species released in Taiwan, was collected after its official release. One hundred and two field samples were compared with four batches of hatchery fry (n = 685) by using a microsatellite-based multiplex PCR assay. Four of the field samples (3.9%; 4/102) were revealed to be from a fish farm and most likely from a single batch. This study revealed that wild mangrove red snappers are genetically different from those originating from farms, and their origins can be traced through molecular markers, even without information on breeding stocks.

Genetic Factors, Viral Infection, Other Factors and Liver Cancer: An Update on Current Progress

  • Su, Cheng-Hao;Lin, Yong;Cai, Lin
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권9호
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    • pp.4953-4960
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    • 2013
  • Primary liver cancer is one of the most common cancers at the global level, accounting for half of all cancers in some undeveloped countries. This disease tends to occur in livers damaged through alcohol abuse, or chronic infection with hepatitis B and C, on a background of cirrhosis. Various cancer-causing substances are associated with primary liver cancer, including certain pesticides and such chemicals as vinyl chloride and arsenic. The strong association between HBV infection and liver cancer is well documented in epidemiological studies. It is generally acknowledged that the virus is involved through long term chronic infection, frequently associated with cirrhosis, suggesting a nonspecific mechanism triggered by the immune response. Chronic inflammation of liver, continuous cell death, abnormal cell growth, would increase the occurrence rate of genetic alterations and risk of disease. However, the statistics indicated that only about one fifth of HBV carries would develop HCC in lifetime, suggesting that individual variation in genome would also influence the susceptibility of HCC. The goal of this review is to highlight present level of knowledge on the role of viral infection and genetic variation in the development of liver cancer.

유전 알고리즘을 이용한 전기 임피던스 단층촬영법의 영상복원 (Image Reconstruction Using Genetic Algorithm in Electrical Impedance Tomograghy)

  • 김호찬;문동춘;김민찬;김신;이윤준
    • 제어로봇시스템학회논문지
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    • 제9권1호
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    • pp.50-56
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    • 2003
  • In electrical impedance tomography(EIT), various image reconstruction algorithms have been used in order to compute the internal resistivity distribution of the unknown object with its electric potential data at the boundary. Mathematically the EIT image reconstruction algorithm is a nonlinear ill-posed inverse problem. This paper presents a new combined method based on genetic algorithm(GA) and modified Newton-Raphson(mNR) algorithm via two-step approach for the solution of the static EIT inverse problem. In the first step, each mesh is classified into three mesh groups: target, background, and temporary groups. The mNR algorithm can be used to determine the region of group. In the second step, the values of these resistivities are determined using genetic algorithm. Computer simulations with the 32 channels synthetic data show that the spatial resolution of reconstructed images by the proposed scheme is improved compared to that of the mNR algorithm at the expense of increased computational burden.

유전자 알고리즘을 이용한 반자동 영상분할 시스템 개발 (Semi-automation Image segmentation system development of using genetic algorithm)

  • 임혁순;박상성;장동식
    • 한국컴퓨터정보학회논문지
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    • 제11권4호
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    • pp.283-289
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    • 2006
  • 현재 영상분할은 사용자가 원하는 영상을 분할하고, 분할된 객체에 다른 영상을 합성하는 기술에 대해 많은 연구가 진행되어왔다. 본 논문에서는 점진적 영역병합과 유전자 알고리즘을 이용하여 새로운 반자동 영상 분할방법을 제안하였다. 제안된 알고리즘은 사용자가 원하는 객체를 선정한 후, 유전자 알고리즘을 이용해 객체의 경계를 검색한다. 검색된 경계를 기반으로 분수령 알고리즘을 이용하여 사용자가 원하는 객체의 영역을 분할하였다. 분할된 객체에서 불명확한 영역들을 점진적 영역 병합으로 배경과 객체를 분리하였다. 그리고, 알고리즘 개발을 효과적으로 수행하기 위해 GUI기반의 인터페이스를 만들어 사용자가 원하는 값을 적용할 수 있게 하였다. 실험에서는 제한된 방법의 우수성 입증을 위하여 다양한 영상을 분석하였다.

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Next-generation sequencing for the genetic characterization of Maedi/Visna virus isolated from the northwest of China

  • Zhao, Ling;Zhang, Liang;Shi, Xiaona;Duan, Xujie;Li, Huiping;Liu, Shuying
    • Journal of Veterinary Science
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    • 제22권6호
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    • pp.66.1-66.9
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    • 2021
  • Background: Maedi/Visna virus (MVV) is a contagious viral pathogen that causes considerable economic losses to the sheep industry worldwide. Objectives: In China, MVV has been detected in several regions, but its molecular characteristics and genetic variations were not thoroughly investigated. Methods: Therefore, in this study, we conducted next-generation sequencing on an MVV strain obtained from northwest China to reveal its genetic evolution via phylogenetic analysis. Results: A MVV strain obtained from Inner Mongolia (NM) of China was identified. Sequence analysis indicated that its whole-genome length is 9193 bp. Homology comparison of nucleotides between the NM strain and reference strains showed that the sequence homology of gag and env were 77.1%-86.8% and 67.7%-75.5%, respectively. Phylogenetic analysis revealed that the NM strain was closely related to the reference strains isolated from America, which belong to the A2 type. Notably, there were 5 amino acid insertions in variable region 4 and a highly variable motif at the C-terminal of the surface glycoprotein (SU5). Conclusions: The present study is the first to show the whole-genome sequence of an MVV obtained from China. The detailed analyses provide essential information for understanding the genetic characteristics of MVV, and the results enrich the MVV library.

SSR 마커를 이용한 산양삼의 유전적 다양성 분석 (Genetic Diversity Analysis of Wood-cultivated Ginseng using Simple Sequence Repeat Markers)

  • 길진수;엄유리;변재경;정종욱;이이;정찬문
    • 한국약용작물학회지
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    • 제25권6호
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    • pp.389-396
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    • 2017
  • Background: Panax ginseng C. A. Meyer is wood-cultivated ginseng (WCG) in Korea which depends on an artificial forest growth method. To produce this type of ginseng, various P. ginseng cultivars can be used. To obtain a WCG similar to wild ginseng (WG), this method is usually performed in a mountain using seeds or seedlings of cultivated ginseng (CG) and WG. Recently, the WCG industry is suffering a problem in that Panax notoginseng (Burk.) F. H. Chen or Panax quinquefolium L. are being sold as WCG Korean market; These morphological similarities have created confusion among customers. Methods and Results: WCG samples were collected from five areas in Korea. After polymerase chain reaction (PCR) amplification using the primer pair labeled with fluorescence dye (FAM, NED, PET, or VIC), fragment analysis were performed. PCR products were separated by capillary electrophoresis with an ABI 3730 DNA analyzer. From the results, WCG cultivated in Korea showed very diverse genetic background. Conclusions: In this study, we tried to develop a method to discriminate between WCG, P. notoginseng or P. quinquefolium using simple sequence repeat (SSR) markers. Furthermore, we analyzed the genetic diversity of WCG collected from five cultivation areas in Korea.

Dexamethasone-induced muscle atrophy and bone loss in six genetically diverse collaborative cross founder strains demonstrates phenotypic variability by Rg3 treatment

  • Bao Ngoc Nguyen;Soyeon Hong;Sowoon Choi;Choong-Gu Lee;GyHye Yoo;Myungsuk Kim
    • Journal of Ginseng Research
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    • 제48권3호
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    • pp.310-322
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    • 2024
  • Background: Osteosarcopenia is a common condition characterized by the loss of both bone and muscle mass, which can lead to an increased risk of fractures and disability in older adults. The study aimed to elucidate the response of various mouse strains to treatment with Rg3, one of the leading ginsenosides, on musculoskeletal traits and immune function, and their correlation. Methods: Six Collaborative Cross (CC) founder strains induced muscle atrophy and bone loss with dexamethasone (15 mg/kg) treatment for 1 month, and half of the mice for each strain were orally administered Rg3 (20 mg/kg). Different responses were observed depending on genetic background and Rg3 treatment. Results: Rg3 significantly increased grip strength, running performance, and expression of muscle and bone health-related genes in a two-way analysis of variance considering the genetic backgrounds and Rg3 treatment. Significant improvements in grip strength, running performance, bone area, and muscle mass, and the increased gene expression were observed in specific strains of PWK/PhJ. For traits related to muscle, bone, and immune functions, significant correlations between traits were confirmed following Rg3 administration compared with control mice. The phenotyping analysis was compiled into a public web resource called Rg3-OsteoSarco. Conclusion: This highlights the complex interplay between genetic determinants, pathogenesis of muscle atrophy and bone loss, and phytochemical bioactivity and the need to move away from single inbred mouse models to improve their translatability to genetically diverse humans. Rg3-OsteoSarco highlights the use of CC founder strains as a valuable tool in the field of personalized nutrition.