• Title/Summary/Keyword: Genetic assessment

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ASSOCIATION BETWEEN TOURETTE DISORDER AND CATECHOL-O-METHYL TRANSFERASE(COMT) GENE IN KOREAN SUBJECTS (한국인에 있어서의 뚜렛 장애와 COMT유전자간의 상관 관계에 대한 연구)

  • Kim, Boong-Nyun;Lim, Jae-In;Cho, Soo-Churl
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.15 no.2
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    • pp.178-184
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    • 2004
  • Objectives : This study was conducted to investigate the association of the COMT polymorphism with the TD in Korean sample of families with TD probands. The relationship between risk alleles and specific clinical features (tic severity, comorbidity, drug response) was also explored. Method : Patients were recruited from the Tic Disorder clinic at the Child & Adolescent Psychiatric Division of Seoul National University Hospital and assessed through 2 stage evaluation. Firstly, all the patients and parents received semistructured interview using Korean version of K-SADS-PL. Secondly all the patients received clinical interview and tic severity assessment with Korean version of YGTSS. The subjects in control group were recruited from the health promotion center in out hospital and were evaluated by SCL-90 and SCID-IV. Through these process, total of 42 children and adolescents with TD, their 84 parents and 86 control subjects were finally recruited. Genotyping for The Val158Met polymorphism of the COMT gene was done by standardized method. After collection of genetic data of all the patients, parents and control subjects, case-control comparison and tranmission dysequilibrium test was executed by SPSS version 11. Result : From the case-control comparison, the frequency of L-allele and LL genotype was significantly higher in TD group. However, no differences were found from the TDT. No significant differences were found in in family history of tic, ADHD, OCD, drug response and comorbid conditions among the three different genotypes in patients with TD. Conclusion : Though this study results should be interpreted cautiously due to small sample size and negative finding in TDT test, this study is the first report that there is positive association between the functional polymorphism of COMT gene the TD.

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The Clinical Features of Chronic Neonatal Hepatitis: Non-familial, Non-metabolic and Non-A, B, C Viral Hepatitis (만성 신생아 간염의 임상적 고찰: 비-가족형, 비-대사성, 비-A, B, C형 바이러스성 신생아 간염)

  • Park, Ji Ae;Lee, Chang Hun;Park, Jae Hong
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.9 no.2
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    • pp.242-248
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    • 2006
  • Purpose: Neonatal hepatitis is the major cause of neonatal cholestasis and may be divided into infectious, metabolic, genetic, and idiopathic neonatal hepatitis. Non-familial, non-metabolic, and non-A, B, C viral neonatal hepatitis is known to have made satisfactory progress, but little is known about its chronic clinical features. Methods: Clinical and histological assessments were carried out in 34 cases with chronic neonatal hepatitis [elevated serum alanine aminotrasferase (ALT) level for more than 6 months] except for A, B, C viral hepatitis, metabolic, or genetic neonatal hepatitis, who were admitted to the Department of Pediatrics, Pusan National University Hospital, from January 1998 to January 2004. Results: Males were more common (70%). Jaundice (100%) and hepatomegaly (44%) were frequent manifestations. Peak serum ALT levels were most commonly below 300 IU/L in 41.2% of patients and peak serum direct bilirubin levels were most commonly between 1.0~5.0 mg/dL in 50% of patients. Ten cases (34%) of 29 patients had positive serum cytomegalovirus (CMV) IgM or urine CMV polymerase chain reaction. Serum ALT level was normalized within 1 year in 11 (37.9%) of 29 cases, and within 2 years in 9 (69.2%) of 13 cases. Serum ALT level was elevated persistently over 2 years in four (30.7%) of 13 cases. Histologic findings such as portal or periportal activity, lobular necrosis, portal or periportal fibrosis were more severe in patients with persistent ALT elevation over 2 years than in those showing normalization of ALT within 2 years (p>0.05). Conclusion: When the elevation of ALT level sustains over 1 year in non-familiar, non-metabolic, non-A, B, C viral neonatal hepatitis, an assessment of the severity of liver injury and a careful monitoring about chronic liver disease may be required.

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Screening of High-Palatability Rice Resources and Assessment of Eating Quality Traits of Korean Landraces and Weedy Rice Germplasms (우리나라 재래벼와 잡초벼의 식미 특성 평가 및 고식미 우수자원 탐색)

  • Kim, Choon-Song;Park, Hyun-Su;Baek, Man-Kee;Jeong, Jong-Min;Kim, Suk-Man;Park, Seul-Gi;Suh, Jung-Pil;Lee, Keon-Mi;Lee, Chang-Min;Cho, Young-Chan
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.64 no.4
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    • pp.299-310
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    • 2019
  • The eating quality of rice is one of the main concerns of rice breeding programs in many countries, especially in japonica rice cultivation areas. To select new resources with high eating quality from Korean native japonica rice, we evaluated a total of 76 varieties, including 47 native rice resources (26 landraces + 21 weedy rice) of Korea. In this study, all eating quality traits varied widely among the native resources, and some of the native resources revealed a high evaluation score in the palatability, expected eating quality, and physicochemical traits among the tested whole-plant materials. From the results, we selected two landraces (Sangdo and Waebyeo) and three weedy rice varieties (Hoengseongaengmi3, Namjejuaengmi6, and Wandoaengmi6) as promising resources for improvement of rice eating quality. Specifically, Wandoaengmi6 presented potential as a key breeding material for improving the eating quality of Korean rice cultivars, having the best evaluation results in palatability score (PS 0.83) from the sensory test and glossiness value (GV 81.8) from the Toyo taste meter of cooked rice. Given the urgent need to overcome the constraint of the narrow genetic background of Korean japonica rice, the results could be a practical solution for exploring new opportunities for improving rice eating quality through the expansion of genetic resources.

Considerations of Countermeasure Tasks in the Fields of Forest and Forestry in Korea through Case Study on "The Nagoya Protocol (Access to Genetic Resources and Benefit Sharing)" ("유전자원의 접근과 이익공유(ABS)" 사례연구를 통한 국내 산림·임업분야 대응과제 고찰)

  • Lee, Gwan Gyu;Kim, Jun Soon;Jung, Haw young
    • Journal of Korean Society of Forest Science
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    • v.100 no.3
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    • pp.522-534
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    • 2011
  • The aim of this study is to draw forth the tasks for establishing the right of native biology in Korea through the case study on 'Access on genetic resources and Benefit Sharing'. For this purpose, this study decided on its research subject by selecting Hoodia, on which ABS treaty was made the most recently, through the examination of the representative ABS precedents on plant species. This study analyzed the process background of ABS on Hoodia, and compared & analyzed the ABS procedures of 'Bonn Guidelines' adopted by the 6th Conference of the Parties of the Convention on Biological Diversity in 2002 and Hoodia case. Together with the ABS major issues in common drawn as a result of this analysis, and "Nagoya Protocol" adopted by the 10th Conference of the Parties of the Convention on Biological Diversity, this study intended to shed a light on the impending tasks which Korea faces at present and its role relationship. The research results are as follows: 1. It is required that species habitats should be divided based on biological classification and its subsequent community should be established with the development of infrastructure such as a community's independent production, management and monitoring of bio-species. 2. There needs to be a designation of ABS National Focal Point for sharing of ABS-related general information, boosting of implementation of the relevant convention. 3. There needs to be the establishment of ABS convention system consequent on legislative, administrative, political procedures, and designation of the Competent National Authorities for the provision of the format of Prior Informed Consent (PIC) and Mutually Agreed Terms (MAT) and their contents assessment and confirmation. 4. There should be the establishment of integrated management system of ABS-related research and development of forest biological resources and its relevant research projects. 5. There should be information development through the distribution of responsibility and role between the ministries and offices concerned according to bio-resources, and there needs to be efforts in aiming for opening a working group of academic-industrial institutions for developing a mutually interchangeable system. 6. It's required that the efficient access between industrial circles and the people should be promoted by setting up ABS support center of biological resources in ministry and office's charge. 7. There should be a selection of a national supervisory organization for securement of the right of a local community and monitoring of ABS convention implementation, and a countermeasure system for preventing outflow of forest bioresources. Conclusively, it's judged that it will be possible to inquire into the countermeasures for the establishment of the native forest biology dominion through such research results.

Current Status and Perspective and Future Task in Korea of Crop Genetic Transformation (작물형질전환의 현황과 한국내의 발전전망 및 과제)

  • Harn, Chee-Hark
    • Journal of Plant Biotechnology
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    • v.33 no.3
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    • pp.171-184
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    • 2006
  • According to ISAAA report, the global area of genetically modified (GM) crops increased more than 50 fold during the ten-year period from 1996 to 2005 with a sustained double-digit growth rate of 10%. This biotechnology adoption is one of the highest rates of technology adoption in agriculture history and this phenomenon indicates that the industrial value of the GM crops is highly perspective. In addition, the year 2010, 60% of cereal seeds in the global market would be GM or biotechnology related seeds so that the GM crop regards as the second green revolution that could provide a huge impact to food and agriculture. Nevertheless, there has not been any GM variety ever successfully commercialized in Korea and even none of the GM crops has ever been approved for safety testing by risk assessment. This seems that Korean agriculture industry might be indeed lost in the war of future seed market. However, lots of evidence show that Korean scientists have established advanced technologies and protocols to develop GM crops for last 20 years. Actually there have been many cases of successful transformation of crops that were previously known very difficult in transforming. Therefore, Korean agbiotechnology arena firmly holds an infrastructure for developing GM crops with a superior technology. Then what were the problems? Why has even a single GM crop not been commercialized in Korea? The tardiness shown by business in adopting the GM crop is caused by many factors: academical weakness, poor research funding, short knowledge of risk assessment, public concern, no successful experience, lack of professional leaders on GM variety development, lack of systems toward industrialization and inappropriate target transgenes from the beginning. In order to catch up in the race for the new green industry, each one of us in private sectors alongside academia and national research institutes needs to focus altogether on what can be done best in terms of choosing crops, investing fund and establishing a road map for commercialization of GM crops.

A Case-control Study for Assessment of Risk Factors of Breast Cancer by the p53 Mutation (p53 유전자 돌연변이에 따른 유방암의 위험 요인 구명을 위한 환자-대조군 연구)

  • Kim, Heon;Ahn, Se-Hyun;Lee, Moo-Song
    • Journal of Preventive Medicine and Public Health
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    • v.31 no.1 s.60
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    • pp.15-26
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    • 1998
  • p53 is the most frequently mutated gene in female breast cancer tissues and the prognosis of breast cancer could be changed by mutation of the gene. This study was performed to examine risk factors for breast cancer subtypes classified by p53 mutation and to investigate the roles of p53 gene mutation in carcinogenesis of breast cancer. The study subjects were 81 breast cancer patients and 121 controls who were matched to cases 1:1 or 1:2 age, residence, education level and menopausal status. All the subjects were interviewed by a well-trained nurse with standardized questionnaire on reproductive factors, and wire asked to fill the self-administrative food frequency questionnaire. p53 gene mutation in the cancer tissue was screened using polymerase chain reaction (PCR)-single strand conformational polymorphism (SSCP) method. Mutation type was identified by direct sequencing of the exon of which mobility shift was observed in SSCP analysis. Mutations were detected in p53 gene of 25 breast cancer tissues. By direct sequencing, base substitutions were found in 20 cancer tissues (10 transition and 10 transversion), and frame shift mutations in 5 (4 insertions and 1 deletion). For the whole cases and controls, risk of breast cancer incidence decreased when the parity increased, and increased when intake amount of total calory, fat, or protein increased. Eat and protein were statistically significant risk factors for breast cancer with p53 mutation. For breast cancer without p53 mutation, protein intake was the only significant dietary factor. These results suggest that causes of p53 positive breast lancer would be different from those of p53 negative cancer, and that dietary factors or related hormonal factors induce mutation of p53, which may be the first step of breast cancer development or a promoter following some unidentified genetic mutations.

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Assessment of Chromosomal Analyses of 1,180 Cases Suspected of Chromosomal Aberrations (염색체이상을 의심한 1,180례의 염색체 분석 결과 검토)

  • Jeong, Hyeon Kyoung;Ahn, Eun Young;Rim, Sung Soo;Kim, Eun Young;Kim, Kyoung Sim;Kim, Yong Wook;Kim, Ki Bok
    • Clinical and Experimental Pediatrics
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    • v.45 no.3
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    • pp.311-319
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    • 2002
  • Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation were included. Results : The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations( 78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. Conclusion : It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

Structural Analysis of Class I Integron Gene Cassette and Assessment of Genetic Relationships by PFGE of Salmonella enterica Serovar Typhimurium Isolated in Gyeongbuk Area (경북지역에서 분리된 Salmonella enterica Serovar Typhimurium의 Class I Integron Gene Cassette 특성과 PEGE 유형분석)

  • Sohn, Chang-Kyu;Lee, Jung-A;Lee, Do-Young;Hun, Wan;Jung, Jung-Kyo
    • Korean Journal of Microbiology
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    • v.42 no.1
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    • pp.12-18
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    • 2006
  • Thirty five Salmonella enterica serovar Typhimurium strains were isolated from diarrheic patients and pigs in Gyeongbuk area from 2003 to 2004. All 35 strains (17 strains from diarrheic patients and 18 from pigs) were resistant to more than one drug and most of strains isolated from pigs were resistant to ampicillin, ohloram-phenicol, streptomycin, sulfamethoxazole-trimethoprime, tetracyclin and nalidixic acid. Each isolate was also screened or the presence of class I, II and III integron gene cassettes. Among 35 strains,3 out of 17 strains isolated from diarrheic patients, carried dhfrX-orfF-aadA2 integron gene cassette and among 18 strains isolated from diseased pigs, 11 strains carried dhfrX-orfF-aadA2 integron gene cassette and 1 strain carried aadA2 integron only. But any class II and class II integron gene cassette were not detected in 35 strains. Thirty five strains were divided by five pulsotypes. Thirty one strains out of thirty five were pulsotype A. Among the remaining 4 strains, one each strain belonged to pulsotype B, C, D and pulsotype E. This data of pulsotypes showed that the widespread of pulsotype A, Salmonella enterica serovar Typhimurium in human and pigs in Gyeongbuk area may have been caused by the dissemination of a few epidemic strains in this area. Thirteen strains contain dhfrX-orfF-aadA2 integron gene cassette showed pulsotype A and one strain contains dhfrX-orfF-aadA2 integron gene cassette showed pulsotype B. One strain contains aadA2 integron showed pulsotype E. But fifteen strains do not contain any integron showed pulsotype A.

Beneficial Effects of Acanthopanax senticosus Extract in Type II Diabetes Animal Model via Down-Regulation of Advanced Glycated Hemoglobin and Glycosylation End Products (제2형 당뇨 동물모델에서 가시오가피 추출물의 당화혈색소 및 최종당화산물 억제를 통한 혈당조절 효과)

  • Kwon, Han Ol;Lee, Minhee;Kim, Yong Jae;Kim, Eun;Kim, Ok-Kyung
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.45 no.7
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    • pp.929-937
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    • 2016
  • The purpose of this study was to investigate the effect of Acanthopanax senticosus extract (ASE) (ethanol : DW=1:1, v/v) on inhibition of type 2 diabetes using an OLETF rat model via regulation of HbA1c and AGEs levels. Supplementation with ASE 0.1% and 0.5% effectively lowered levels of glucose, insulin, oral glucose tolerance test, and Homa-insulin resistance, suggesting reduced insulin resistance. Blood levels of HbA1c and AGEs were significantly reduced in a dose-dependent manner. As oxidative stress plays a key role in accelerating production of HbA1c and AGEs, which worsen symptoms of type 2 diabetes, levels of malonaldehyde and pro-inflammatory cytokines were measured. Lipid peroxidation in both blood and liver tissues was significantly reduced, and induction of pro-inflammatory cytokines interleukin-${\beta}$ and tumor necrosis factor-${\alpha}$, which elevate production of HbA1c and AGEs, was inhibited (P<0.05). To evaluate the possible cellular events after AGEs receptor activation, genetic expression of protein kinase C (PKC)-${\delta}$ and transforming growth factor (TGF)-${\beta}$ was measured by real-time polymerase chain reaction. Supplementation with both ASE 0.1% and 0.5% significantly inhibited mRNA expression of PKC-${\delta}$ and TGF-${\beta}$, indicating that ASE may have beneficial effects on preventing insulin-resistant cells or tissues from progressing to diabetic complications. Taken together, ASE has potential to improve type 2 diabetes by inhibiting insulin resistance and protein glycosylation, including production of HbA1c and AGEs. Anti-oxidative activities of ASE are a main requisite for reducing production of HbA1c and AGEs and are also related to regulation of the PKC signaling pathway, resulting in suppression of TGF-${\beta}$, which increases synthesis of collagen, prostaglandin, and disease-related proteins.

The Antioxidant Effect of Vitamin C and Deferoxamine on Paraquat-induced Cytotoxicity in Cultured Lymphocytes (배양림프구에서 Paraquat의 세포독성에 대한 Vitamin C와 Deferoxamine의 항산화 효과)

  • Eo Eun-Kyung;Kim Kyung-Hee
    • Journal of The Korean Society of Clinical Toxicology
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    • v.4 no.1
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    • pp.7-16
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    • 2006
  • Purpose: As basic information of antioxidant treatments for the patient with paraquat intoxication, in human peripheral lymphocytes, the cytotoxicity of paraquat was measured, and to evaluate the antioxidant effect of vitamin C and deferoxamine against this cytotoxicity, malondialdehyde (MDA), superoxide dismutase (SOD) activity and total antioxidant status (TAS) were measured. Methods: From 10 healthy adults, after obtaining a consent, 20ml peripheral blood was collected. Experimental groups were divided to (1) control group, the group treated with an identical amount of saline, (2) P group: the group treated with paraquat only, (3) PV group: the group treated with paraquat followed by vitamin C 30 minutes later, (4) PD group: the group treated with paraquat followed by deferoxamine 30 minutes later, (5) PVD group: the group treated with paraquat followed by vitamin C 30 minutes later and subsequently deferoxamine one hour later, and (6) PDV group: the group treated with paraquat followed by deferoxamine 30 minutes later and subsequently vitamin C 1 hour later, and thus to total 6 groups. In each group, 10 samples of peripheral blood was assigned and $100{\mu}M\;paraquat,\;100{\mu}M$ vitamin C, and $100{\mu}M$ deferoxamine were used as reagent. Lymphocytes were isolated, cultured, and cytotoxicity was measured by the Microculture Tetrazolium method (MTT assay), MDA and SOD activity, and TAS concentration were measured. Results: In regard to the cytotoxicity measured in each group, their cytotoxicity was decreased in the group treated with antioxidants, in comparison with the group treated with paraquat only. In the cases that the order of the treatment of these two antioxidants was altered, viability in the PDV group $(1.077{\pm}0.121)$ was increased more that the PVD group $(0.888{\pm}0.152)$ statistically significantly (p=0.018). Concerning the amount of MDA, in comparison with the P group $(6.78{\pm}0.93{\mu}mol/L)$, after the treatment of each antioxidant, the concentration of MDA was decreased statistically significantly (p<0.05). In the group treated with two antioxidants together, in comparison with the group treated only with one antioxidant, the amount of MDA was increased statistically significantly $(PV:\;3.96{\pm}0.98{\mu}mol/L,\;PD:\;4.92{\pm}1.50{\mu}mol/L,\;PVD:\;3.22{\pm}0.83{\mu}mol/L,\;and\;PDV:\;3.42{\pm}0.95{\mu}mol/L,\;p=0.007)$. The concentration of SOD measured in the blood in each group after the administration of paraquat, in comparison with the control group, a pattern of the elevation of SOD activity and subsequent decrease was detected, however, it was not statistically significant. In the comparison of the groups treated with antioxidants, in comparison with the P group $(1419.9{\pm}265.9{\mu}mol/L)$, SOD activity was decreased statistically significantly in only the PDV group $(1176.4{\pm}238.9{\mu}mol/L)$ (p=0.017). In regard to TAS measured in each group, in comparison with the P group $(0.87{\pm}0.05{\mu}mol/L)$, in all groups treated with the antioxidants, the PV group was $1.00{\pm}0.03{\mu}mol/L$ (p=0.005), the PD group was $9.01{\pm}0.24{\mu}mol/L$ was $4.64{\pm}3.98{\mu}mol/L$ (P=0.005), and the PDV group was $9.41{\pm}0.27{\mu}mol/La$ (p=0.005), and thus total antioxidant activity was increased statistically significantly In a multiple comparison test, the PDV group showed the highest total antioxidant activity (p<0.0001). Conclusion: The result of the assessment of the antioxidant effect of vitamin C and deferoxamine on paraquat-induced cytotoxicity showed that in regard to cytotoxicity, SOD activity and TAS measurement, the best result was observed in the PDV group. Therefore, it was found that vitamin C and deferoxamine were effective antioxidants for the paraquat-induced cytotoxicity, and it suggests that the administration of deferoxamine followed by vitamin C may improve their antioxidant effect more.

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