• Title/Summary/Keyword: mutation rate

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Korean Nurses' Knowledge about Hereditary Colorectal Cancer (국내 간호사의 유전성 대장암 지식정도)

  • Choi, Kyung-Sook;Kim, Hack-Sun;Park, Jung-Ae;Lee, Joo-Hyun
    • Asian Oncology Nursing
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    • v.11 no.2
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    • pp.147-154
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    • 2011
  • Purpose: This study was performed to evaluate Korean nurses' knowledge about hereditary colorectal cancer (HCRC). Methods: A modified 15-item HCRC knowledge questionnaire was developed based on previous research. One hundred and forty-eight nurses have completed the questionnaire from February to April, 2011. Results: The average score of nurses' knowledge was $11.25{\pm}1.54$. Ninety-seven percent of nurses knew about colonoscopy check up schedule and family pedigree. However, only 20% of nurses knew about the rate of passing on mutation genes to offspring and risk of developing CRC among carriers. Only 13.5% of nurses had previous genetic education experiences. Working in oncology units, taking care of CRC patients, and participating in genetic education were not associated with nurses' HCRC knowledge. Conclusion: Various factors influence nurses' knowledge about HCRC. Repeated study with larger national sample of nurses is recommended to identify the factors affecting nurses' knowledge level in order to develop efficient genetic education programs for HCRC patients and their families by nurses.

Kabuki syndrome: clinical and molecular characteristics

  • Cheon, Chong-Kun;Ko, Jung Min
    • Clinical and Experimental Pediatrics
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    • v.58 no.9
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    • pp.317-324
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    • 2015
  • Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.

Genetic characterization and phylogenetic analysis of infectious bronchitis virus isolated in Jeonbuk (전북지역 전염성기관지염 바이러스의 유전적 특성)

  • Chu, Keum-Suk;Kim, Ji-Hyun;Lee, Jeong-Won;Choi, Kwang-Lim
    • Korean Journal of Veterinary Service
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    • v.38 no.1
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    • pp.51-56
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    • 2015
  • Infectious bronchitis virus (IBV) causes an acute and highly contagious viral disease of chicken that is great economic losses to the poultry industry worldwide. Among the IBV structural proteins, the high rate spike glycoprotein S1 gene mutation and antigenic variant strains have been reported in many countries. During the years 2012~2014, 10 IBV strains were isolated from infected chicken farms distributed in provinces of Jeonbuk. Analysis of the S1 gene sequences amplified from 10 isolated strains with QX strains showed nucleotide homologies ranging from 96.5 to 95.4%. Phylogenetic analysis revealed that all strains were clustered into QX-like groups. This study suggests that QX-like IBVs are circulating in commercial chicken farms in Jeonbuk. Therefore, the continuing survellance is significantly important for prevention and control of BIV infection.

A family with dynamin 2-related centronuclear myopathy without ocular involvement

  • Park, Jin-Sung;Kim, Dae-Seong;Shin, Jin-Hong
    • Journal of Genetic Medicine
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    • v.13 no.1
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    • pp.51-54
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    • 2016
  • Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally located nuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically shows distal dominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies show a high prevalence rate of early-onset ptosis and ophthalmoplegia and correlated with the severity of the disease. However, Asian reports show a low prevalence and late-onset ocular symptoms in DNM2-related CNM patients. p.R465W is one of the most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and his daughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocular symptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2-related CNM in Korea.

Occurrence of Off-type Plants in japonica/indica Hybrid Rice Cultivars

  • Lee, Jeom-Ho;Jeon, Yong-Hee;Hwang, Hung-Goo
    • Plant Resources
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    • v.7 no.2
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    • pp.141-146
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    • 2004
  • Frequent occurrence of off-type plants in a given cultivar has been a serious problem in both breeder's and farmer's fields. An experiment was designed to examine the differences in rate of occurrence of off-type plants among Tongil-type cultivars (high yielding cultivars derived from indica/japonica hybridization) from which the possible cause of higher occurrence of off-type plant in a specific cultivar was deduced. Among five Tongil-type cultivars examined for morphological variant in the field, only one cultivar, Dasanbyeo, had off-type plants. When analyzed with SSR markers, off-type plants showed different band patterns from original cultivar, having several extra bands in addition to cultivar-specific band, suggesting that off-type plants were originated from Dasanbyeo, rather than originated from mixing or mishandling of seed materials with other cultivars. The possible cause of off-type occurrence seems to be natural pollination with other cuItivars adjacent to the original cultivar during seed multiplication. This was supported from the observation that self-crossed progeny of the off type plants showed a wide range of variation of agronomic traits which could not be observed when there was a smaller introduction of genes to the fixed germplasm as happened in the case of cultivar mutation. Another evidence supported this idea that Dasanbyeo showed much of difference in floral organ and behavior to other cultivar to be subjected to higher out-crossing than other cultivars examined.

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Bacterial Resistance to LB20304, a New Fluoroquinolone Antibiotic

  • Kim, Mu-Yong;Paek, Kyoung-Sook;Kim, In-Chull;Kwak, Jin-Hwan
    • Archives of Pharmacal Research
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    • v.19 no.5
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    • pp.400-405
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    • 1996
  • In vitro studies were conducted to dertermine the frequency rate of spontaneous resistance to LB20304 and to dertermine whether cross-resistance to other antimicrobial agents develops. In eight strains of bacteria, the frequency of mutation to LB20304 at the concentrations of four and eight times the minimal inhibitory concentration(MIC) ranaged from less than 4.0 ${\times}$ $10^{-10}$ to 2.2 $\{times}$ $10^{-10}$ . These results were similar to those founf for other new fluoroquinolones. THe development of stepwise resistance was determined by repeated subculture in broth in the presence of increasing concentration of the compounds. Exposure of bacteria to increasing concentrations of LB20304 resulted in the selection of organisms with higher MICs. There were 4- to 128-fold increases in the MIC of LB20304 for bacterial strains of Staphylococcus aureus, Streptococcus pneumoniae, Escherichia coli and Pseudomonas aeruginosa. However, those strains selected after repeated exposure were well within the susceptibility range for LB20304 except for Pseudomonas aeruginosa. The resistant isolates selected with LB20304 showed cross-resistance when tested against ciprofloxacin and vice versa.

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Antifungal Susceptibility Tests and the cyp51 Mutant Strains among Clinical Aspergillus fumigatus Isolates from Korean Multicenters

  • Won, Eun Jeong;Joo, Min Young;Lee, Dain;Kim, Mi-Na;Park, Yeon-Joon;Kim, Soo Hyun;Shin, Myung Geun;Shin, Jong Hee
    • Mycobiology
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    • v.48 no.2
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    • pp.148-152
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    • 2020
  • We investigated the antifungal susceptibilities and the cyp51 mutant strains among Aspergillus fumigatus clinical isolates obtained from 10 university hospitals in Korea. Of the 84 isolates examined, two itraconazole-resistant isolates were found with no amino acid substitution in the cyp51A/cyp51B genes. However, 19 (23.2%) azole-susceptible isolates harbored amino acid substitutions: Nine isolates harbored one to five mutations in cyp51A with high polymorphism, and 11 isolates exhibited the same Q42L mutation in cyp51B. Overall, a low azole resistance rate and high frequency of cyp51A/cyp51B amino acid substitutions were observed in the azole-susceptible A. fumigatus isolates in Korea.

The Optimization Of SS-Type Deflection Yoke By Using Genetic Algorithm (유전 알고리즘을 이용한 SS형 편향코일의 형상 최적화)

  • Joo, K.J.;Yoon, I.G.;Kang, B.H.;Joe, M.C.;Hahn, S.Y.;Lee, H.B.
    • Proceedings of the KIEE Conference
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    • 1993.07b
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    • pp.971-973
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    • 1993
  • Deflection Yoke(the following, DY) is the important electric device of CRT which deflects R, G, B beans influencing magnetic field produced by yoke coils. Recently, DY is designed to the saddle/saddle type of coils, being proposed for high-definite and high-efficient CRT. This paper presents the optimization of pin-sectioned saddle coil's shape for minimizing gap between desired and practical deflections of electron beams by using Genetic Algorithm. Evolution Startegy is utilized in this paper, since evolution strategy is a kind of genetic algorithms finding the optimized values by choicing the better generation with comparing the parents and their children. Here, the children are generated by only mutations from the normal random variables. Evolution strategy has shown better powerful converge rate than the other genetic algorithms becuase of using only the mutation-operator.

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Biosafety and Toxicological Evaluation of Tissue-Cultured Echinacea purpurea Adventitious Roots

  • Murthy, Hosakatte Niranjana;Park, So-Young;Lee, Eun Jeong;Paek, Kee Yoeup
    • Horticultural Science & Technology
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    • v.33 no.1
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    • pp.124-132
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    • 2015
  • Echinacea purpurea (L.) Moench (purple cone flower) is an important medicinal plant; it can enhance immunity, relieve pain, and reduce inflammation, and also has hormonal, antiviral, and antioxidant effects. Adventitious root biomass of Echinacea purpurea was produced in commercial-scale bioreactors for use as a dietary supplement in the food industry and in traditional medicine. Biosafety and toxicological evaluations of tissue-cultured Echinacea purpurea adventitious roots (TCEPARs) were performed. Reverse mutation and chromosomal aberration tests showed no significant mutagenicity. Furthermore, repeated four-week oral dose tests performed in Sprague-Dawley rats did not show any notable changes in the general behavior of the rats, in the gross appearance of their internal organs, or in their mortality rate. There were no differences between the control group and the treatment group in parameters such as absolute body weight, hematology, blood chemistry, and absolute and relative organ weights. These findings indicate that TCEPARs are safe and nontoxic when consumed at an average dietary level and can be used as raw material for traditional medicine and the food industry.

Immunohistochemical study of p53 and mdm-2 in Squamous Cell Carcinoma and Leukoplakia of Head and Neck. (두경부 편평상피세포암과 백반증에서 p53과 mdm-2의 면역조직화학적 연구)

  • 김용주;정환우;황찬승;양훈식
    • Korean Journal of Bronchoesophagology
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    • v.4 no.1
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    • pp.73-78
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    • 1998
  • The mutation of p53 is the most common genetic alteration found in human cancers and has oncogenic properties. mdm-2 is a recently discoverd that controls the p53 activity by binding of its protein, so negative feedback loop has been suggested in which p53 induces mdm-2 expression. The purpose of this study was to analyze the expression of p53 in leukoplakias, mdm-2 in squamous cell carcinomas, and relationship between p53 and mdm-2 expression in leukoplakias and squamous cell carcinomas. The results were as follows : 1) The p53 was expressed 33.4% in leukoplakias 2) The mdm-2 was expressed 8.3% in leukoplakias and 22.7% in squamous cell carcinomas. 3) The expression rate of p53 was higher in specimens negative for mdm-2 than in specimens positive for mdm-2, but there was not significant relationship between p53 and mdm-2 expression. In conclusion p53 was thought to participate in early phase of oncogenesis, and mdm-2 was thought to have a role as a oncogene in squamous cell carcinoma of head and neck. Though there was not significant relationship between p53 and mdm-2 expression, mdm-2 was thought to inhibit p53 activity.

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