• Title/Summary/Keyword: Genetic influence

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Comparison of PCR-RFLP and Real-Time PCR for Allelotyping of Single Nucleotide Polymorphisms of RRM1, a Lung Cancer Suppressor Gene (폐암 억제유전자 RRM1의 단일염기다형성 검사를 위한 PCR-RFLP법과 Real-Time PCR법의 유용성 비교)

  • Jeong, Ju-Yeon;Kim, Mi-Ran;Son, Jun-Gwang;Jung, Jong-Pil;Oh, In-Jae;Kim, Kyu-Sik;Kim, Young-Chul
    • Tuberculosis and Respiratory Diseases
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    • v.62 no.5
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    • pp.406-416
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    • 2007
  • Background: Single nucleotide polymorphisms (SNPs), which consist of a substitution of a single nucleotide pair, are the most abundant form of genetic variations occurring with a frequency of approximately 1 per 1000 base pairs. SNPs by themselves do not cause disease but can predispose humans to disease, modify the extent or severity of the disease or influence the drug response and treatment efficacy. Single nucleotide polymorphisms (SNPs), particularly those within the regulatory regions of the genes often influence the expression levels and can modify the disease. Studies examining the associations between SNP and the disease outcome have provided valuable insight into the disease etiology and potential therapeutic intervention. Traditionally, the genotyping of SNPs has been carried out using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP), which is a low throughput technique not amenable for use in large-scale SNP studies. Recently, TaqMan real-time PCR chemistry was adapted for use in allelic discrimination assays. This study validated the accuracy and utility of real-time PCR technology for SNPs genotyping Methods: The SNPs in promoter sequence (-37 and -524) of lung cancer suppressor gene, RRM1 (ribonucleotide reductase M1 subunit) with the genomic DNA samples of 89 subjects were genotyped using both real-time PCR and PCR-RFLP. Results: The discordance rates were 2.2% (2 mismatches) in -37 and 16.3% (15 mismatches) in -524. Auto-direct sequencing of all the mismatched samples(17 cases) were in accord with the genotypes read by real-time PCR. In addition, 138 genomic DNAs were genotyped using real-time PCR in a duplicate manner (two separated assays). Ninety-eight percent of the samples showed concordance between the two assays. Conclusion: Real-time PCR allelic discrimination assays are amenable to high-throughput genotyping and overcome many of the problematic features associated with PCR-RFLP.

The Influence of Pretreatment Period, 2-Hydroxynicotinic Acid and Anther Co-pretreatment on Embryo Induction in Isolated Microspore Culture of Capsicum annuum L. (고추의 나출 소포자 배양시 전처리 기간, 2-Hydroxynicotinic Acid 및 약-공동전처리가 소포자배 발생에 미치는 영향)

  • Park Eun-Joon;Kim Jin-Ae;Lee Jong-Suk;Jang In-Chang;Yoon Michung;Chung Sang-Ho;Kim Moonza
    • Journal of Plant Biotechnology
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    • v.32 no.1
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    • pp.37-44
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    • 2005
  • Microspores were isolated from pepper (Capsicum annuum L.) anthers by using a micro-blender and cultured in modified NLN medium at $25^{\circ}C$. The influence of pretreatment period at $32^{\circ}C$, adding the 2-hydroxynicotinic acid to a pretreatment medium, and co-pretreatment anthers with microscopes on the induction of embryo were examined. Globular and torpedo embryos were observed from 3 weeks after culture. Embryo development was not synchronized within culture. After 4 weeks in culture, in addition to globular and torpedo embryos, cotyledonary embryos were observed. Normal cotylodonary embryos developed into plantlets when transferred to a solid hormone free B5 medium containing $2\%$ sucrose. Embryo yields were significantly higher after 1- and 2-day pretreatment at $32^{\circ}C$. However the development of embryo ceased at the globular or heart stage. In contrast, embryo yields were lower after 3- to 6-day pretreatment at $32^{\circ}C$ and embryo developed at the cotyledonary stage. After adding the 2-hydroxynicotinic acid to anther pretreatment solution, embryo yields were slightly increased. However most embryos occurred were at the globular or heart stage. Co-pretreatment of microspores with anthers was deleterious for embryo induction and development. AS far as we know, this is the first report of success in obtaining high frequency of embryogenesis and plantlets formation from isolated microspores of pepper. Although the culture conditions have to be optimized further, this promising microspore culture system can be used for genetic transformation, selection for dominant and recessive traits as well as for the production of homozygous doubled haploid plants.

Expression of Hypoxia-inducible Factor-1 $\alpha$ in Esophageal Squamous Cell Carcinoma: Relationship to Prognosis and Tumor Biomarkers (식도 편평세포암에시 Hypoxia-inducible Factor-1 $\alpha$의 발현: 예후와 종양표지자와의 상관성)

  • 양일종;김종인;이해영;천봉권;조성래
    • Journal of Chest Surgery
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    • v.37 no.8
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    • pp.691-701
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    • 2004
  • Background: Tissue hypoxia is a characteristic of many human malignant neoplasms, and hypoxia inducible factor-1 (HIF-1) plays a pivotal role in essential adaptive response to hypoxia, and activates a signal pathway for the expression of the hypoxia-regulated genes, resulting in increased oxygen delivery or facilitating metabolic adaptation to hypoxia. Increased level of HIF-1 a has been reported in many human malignancies, but in esophageal squamous cell carcinoma, the influence of HIF-1 a on tumor biology, including neovascularization, is not still defined. Material and Method: The influence of HIF-1 a expression on angiogenic factors, correlation between the tumor proliferation and HIF-1 a expression, interaction of HIF-1 a expression and p53, and correlation between HIF-1 a expression and clinicopathological prognostic parameters were investigated, using immunohistochemical stains for HIF-1 a, VEGF, CD34, p53, and Ki-67 on 77 cases of resected esophageal squamous cell carcinoma. Result: HIF-1 a expression in cancer cells was found in 33 of 77 esophageal squamous cell carcinoma cases. The 33 cases (42.9%) showed positive stain for HIF-1 a. High HIF-1 a expression was significantly associated with several pathological parameters, such as histologic grade (p=0.032), pathological TMN stage (p=0.002), the depth of tumor invasion (p=0.022), regional lymph node metastasis (p=0.002), distant metastasis (p=0.049), and lymphatic invasion (p=0.004). High HIF-1 a expression had significant VEGF immunoreactivity (p=0.008) and Ki-67 labeling index (p<0.001), but was not correlated with microvascular density within tumors (p=0.088). The high HIF-1 a expression was correlated with aberrant p53 accumulation with a marginal significance (p=0.056). The overall 5-year survival rate was 34.9%. The survival rate of patients with a high HIF-1 a expression was worse than that of patients with low-expression tumors (log-rank test, p=0.0001). High HIF-1 a expression was independent unfavorable factors although statistical significance is marginal in multivariate analysis. Conclusion: It is suggested that (1) high HIF-1 a expression in esophageal squamous cell carcinoma is associated with tumor hypoxia, or with genetic alteration in early carcinogenesis and progressive stages, (2) high HIF-1 a expression may be associated with intratumoral neovascularization through HIF-VEGF pathway, and (3) high HIF-1 a expression is associated with poor prognosis in patients with esophageal squamous cell carcinoma and may playa role as biomarker for regional lymph node metastasis.

Self-optimizing feature selection algorithm for enhancing campaign effectiveness (캠페인 효과 제고를 위한 자기 최적화 변수 선택 알고리즘)

  • Seo, Jeoung-soo;Ahn, Hyunchul
    • Journal of Intelligence and Information Systems
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    • v.26 no.4
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    • pp.173-198
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    • 2020
  • For a long time, many studies have been conducted on predicting the success of campaigns for customers in academia, and prediction models applying various techniques are still being studied. Recently, as campaign channels have been expanded in various ways due to the rapid revitalization of online, various types of campaigns are being carried out by companies at a level that cannot be compared to the past. However, customers tend to perceive it as spam as the fatigue of campaigns due to duplicate exposure increases. Also, from a corporate standpoint, there is a problem that the effectiveness of the campaign itself is decreasing, such as increasing the cost of investing in the campaign, which leads to the low actual campaign success rate. Accordingly, various studies are ongoing to improve the effectiveness of the campaign in practice. This campaign system has the ultimate purpose to increase the success rate of various campaigns by collecting and analyzing various data related to customers and using them for campaigns. In particular, recent attempts to make various predictions related to the response of campaigns using machine learning have been made. It is very important to select appropriate features due to the various features of campaign data. If all of the input data are used in the process of classifying a large amount of data, it takes a lot of learning time as the classification class expands, so the minimum input data set must be extracted and used from the entire data. In addition, when a trained model is generated by using too many features, prediction accuracy may be degraded due to overfitting or correlation between features. Therefore, in order to improve accuracy, a feature selection technique that removes features close to noise should be applied, and feature selection is a necessary process in order to analyze a high-dimensional data set. Among the greedy algorithms, SFS (Sequential Forward Selection), SBS (Sequential Backward Selection), SFFS (Sequential Floating Forward Selection), etc. are widely used as traditional feature selection techniques. It is also true that if there are many risks and many features, there is a limitation in that the performance for classification prediction is poor and it takes a lot of learning time. Therefore, in this study, we propose an improved feature selection algorithm to enhance the effectiveness of the existing campaign. The purpose of this study is to improve the existing SFFS sequential method in the process of searching for feature subsets that are the basis for improving machine learning model performance using statistical characteristics of the data to be processed in the campaign system. Through this, features that have a lot of influence on performance are first derived, features that have a negative effect are removed, and then the sequential method is applied to increase the efficiency for search performance and to apply an improved algorithm to enable generalized prediction. Through this, it was confirmed that the proposed model showed better search and prediction performance than the traditional greed algorithm. Compared with the original data set, greed algorithm, genetic algorithm (GA), and recursive feature elimination (RFE), the campaign success prediction was higher. In addition, when performing campaign success prediction, the improved feature selection algorithm was found to be helpful in analyzing and interpreting the prediction results by providing the importance of the derived features. This is important features such as age, customer rating, and sales, which were previously known statistically. Unlike the previous campaign planners, features such as the combined product name, average 3-month data consumption rate, and the last 3-month wireless data usage were unexpectedly selected as important features for the campaign response, which they rarely used to select campaign targets. It was confirmed that base attributes can also be very important features depending on the type of campaign. Through this, it is possible to analyze and understand the important characteristics of each campaign type.

Association of apolipoprotein E polymorphisms with serum lipid profiles in obese adolescent (비만아에서 고지혈증과 Apolipoprotein E 다형성의 관계)

  • Yoon, Jung Min;Lim, Jae Woo;Cheon, Eun Jung;Ko, Kyoung Og
    • Clinical and Experimental Pediatrics
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    • v.51 no.1
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    • pp.42-46
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    • 2008
  • Purpose : Apolipoprotein E (Apo E) plays a major role in lipoprotein metabolism and lipid transport. Many investigators have described that Apo E polymorphisms is one of the most important genetic determinants for cardiovascular disease. The purpose of this study was to evaluate the association between Apo E polymorphisms and serum lipid profiles in obese adolescent. Methods : We measured the serum concentrations of glucose, apolipoprotein (Apo) A1, Apo B, total cholesterol (TC), triglyceride (TG), HDL and LDL-cholesterol after overnight fasting in obese adolescent. Apo E polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results : 86 obese adolescents participated in this study. The body mass index (BMI) of participants were excess of 95 percentile by age and sex. Male to female ratio was 1.7 and mean age of study group was $16.2{\pm}1.8\;years$. Mean BMI was $27.4{\pm}2.5kg/m^2$. The frequency of ${\varepsilon}2$, ${\varepsilon}3$ and ${\varepsilon}4$ allele were 8.1%, 87.2% and 4.7% respectively. Study populations were classified into the following three genotypes 1) Apo E2 group (n=13, 15.1%) carrying either the ${\varepsilon}2/{\varepsilon}2$ or ${\varepsilon}2/{\varepsilon}3$ 2) Apo E3 group (n=65, 75.6%) carrying the most frequent ${\varepsilon}3/{\varepsilon}3$ 3) Apo E4 group (n=8, 9.3%) carrying either the ${\varepsilon}3/{\varepsilon}4$ or ${\varepsilon}4/{\varepsilon}4$. No differences were found among Apo E genotypes concerning age, sex, weight, height and BMI. Apo B and LDL-cholesterol concentrations were significantly higher in the Apo E4 group (P<0.05). No association were found between Apo E genotypes and glucose, Apo A1, TC, TG and HDL. Conclusions : We confirmed that serum concentrations Apo B and LDL-cholesterol were influenced by Apo E genotypes. Apo E polymorphisms seems to influence some alteration of lipid metabolism associated with obesity in adolescent.

Sister Chromatid Exchanges in Lymphocytes of Some Workers Exposed to Hexavalent Chromium (일부 6가 크롬 폭로 작업자의 임파구 자매염색분체교환)

  • Shin, Dong-Hoon;Yoon, Nung-Ki;Suh, Suk-Kwon;Yeh, Min-Hae
    • Journal of Preventive Medicine and Public Health
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    • v.23 no.3 s.31
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    • pp.358-368
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    • 1990
  • To investigate the possibility of utilizing of sister chromatid exchange(SCE) analysis in lymphocytes as an indicator which could evaluate the effects of mutagenicity after in vivo exposure to hexavalent chromium, this study was conducted using some of chromium plating workers occupationally exposed to hexavalent chromium, chromium trioxide ($CrO_3$) in Taegu city. The study population was 12 Cr platers with perforation of nasal septum, 12 Cr platers without perforation of nasal septum and 20 controls. The SCE in peripheral blood lymphocytes of the subjects was analyzed and blood chromium concentration was estimated using the atomic absorption spectrophotometer (IL551) equipped with furnace atomizer (IL755). The mean SCE frequencies for Cr platers with and without perforation of nasal septum were statistically higher than those for control. The difference in SCE frequencies by age, smoking habits were not statistically significant both in Cr platers and controls. There was no difference in SCE frequencies by career of Cr platers workers. In Cr platers, the correlation between the mean SCE frequencies and chromium concentration in blood was not statistically significant. Using the transformation $y=(sum\;SCE)^{\frac{1}{2}}+(sum\;SCE+1)^{\frac{1}{2}}$, when the data was studied by multiple regression, it appeared that the influence of the occupation was the most important. Age, smoking, occupation and CrB(blood chromium concentration) together explain only 32.3% of interpersonal variation on SCE. The results in this study suggest tt a genetic risk due to occupationally exposure to hexavalent chromium is clearly inferable and thus, SCE analysis in human lymphocytes may be used indicator of biological toxic effects of chromium. Further, populatio analysis stuies are required before SCE frequency can be used as a mutagenic indicator in human population.

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Retrospect and Prospect of Medical Law 20th Anniversary (Medical Criminal Law) (의료법학 20주년 회고와 전망(의료형법 분야))

  • Ha, Tae Hoon
    • The Korean Society of Law and Medicine
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    • v.20 no.3
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    • pp.47-79
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    • 2019
  • The Korean Society of Law and Medicine has faithfully played the role of professional academic organizations last 20 years in terms of academic activities, accumulated achievements, diversity, professionalism, and influence on academic circles. The Korean Society of Law and Medicine and the Journal of Medical Law serve as a platform for academic information and exchange of opinions on medical law. Medical law began in the midst of increasing conflicts and disputes caused by medical malpractice and the enactment and legal coercion of medical care as pressure on medical workers. It tried to find a way to coexist with each other through the encounter and convergence of medicine and law. Medical criminal law extends from traditional crimes in the realm of life and body protection to bioethics violations caused by the development of biomedical technology, corruption and economic crime in the medical field. Medical law has evolved into a comprehensive legal area dealing with legal issues raised in medical treatment, healthcare, bioethics, and life sciences technology. On the legal side, medical law is not independent legal areas. It is overlapping with traditional law areas such as civil law, administrative law, criminal law, social law, civil and criminal procedure law. However, it is now established as a convergence study in medicine, bioethics, life science, as well as in various fields of law. It has become an area where collaboration is needed with the field of law, medicine, ethics, sociology and economics. Medical criminal law has undergone a dynamic development over the last two decades. The development of medicine and medical technology provides new and innovative methods of diagnosis and treatment. The achievements and risks of revolutionary developments in biotechnology, genetic engineering and medicine coexist. While there is a dazzling achievement that mankind has hoped for: combating disease and improving health, it also creates unwanted side effects and risks to humans. There is a need to reconsider ethical and legal principles. The discovery and development of patient identity and autonomy has changed the medical doctor-patient relationship. Furthermore, it was complicated by the triangle relationship of patients, medical doctors and insurance. Legal matters are also complicated. This is why the necessity of legislation is emerging. Criminal punishment provisions are also required. The Medical Law and Biomedical Law are systematically and coherently deformed as mosaic-based legislation that takes place whenever there are social issues, citizens' needs, and medical organizations' interests, rather than sufficient enactment and revision procedures. It needs a complete overhaul, and this is possible through interdisciplinary collaboration which is the strength of The Korean Society of Law and Medicine.

Apolipoprotein E2 & E4 Alleles Influence on the Distribution of the Human Plasma Lipid Profiles in Mormolipidemic Korean Women (아포리포 단백질 E 유전자의 E2와 E4 변이형이 정상 한국여성의 혈중 지질 수준 분포에 미치는 영향)

  • 이명숙
    • Journal of Nutrition and Health
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    • v.29 no.6
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    • pp.642-650
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    • 1996
  • Apo E polymorphism (e2, e3, e4) was among the first reported genetic polymorphism that explained part of the normal variation in plasma cholesterol concentrations. Both alleles E2 and E4 are significantly more frequent in patients with mixed forms of hyperlipidemia and contribute on the observed differences in CHD risk among different populations. Effects of apo E polymorphism on the distribution of plasma lipid profiles were studied in 105 normolipidemic healthy women. The relative frequencies of common alleles for gene locus of apo E in this study were that E3 allele was 0.848, E4 allels was 0.087, and E2 allele was 0.067. SBP and DBP were slightly more elevated in E2 allele than those in E3 and E4. The pulsation was also significantly (p<0.016) increased by E2 allele with excess body fat % in E2 allele. There were no differences in total-, total HDL-, VLDL+LDL-, VLDL- and LDL cholesterol among the apo E alleles. However, apo E2 allele subject had lower level of total HDL and HDL2 cholesterol (P<0.047) and significantly higher lev디 of HDL3 cholesterol (P<0.05) than those in apo E3 and E4 allele subject. The conclusion is that first, it seems that apo E4-mediated alteration through LDL B/E receptors or E receptors in cholesterol metabolism results in lower plasma TG or remanate particles and in higher levels of VLDL+LDL or LDL. Second, apo E2 allele shows reciprocal effects of E4 on the plasma lipid metabolism, respecitvely. Third, apo E2 allele was more atherogenic than apo E4 because the higher levels of HDL3/HDL2 ratio and atherogenic index[(TC-HDL)/HDL]were criticized.

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A Study on Serum Dopamine-${\beta}$-Hydroxylase Activity and Thermostability in a Randomly Selected Population of Adults (정상인 혈청 Dopamine-${\beta}$-Hydroxylase 활성도 및 Thermostability에 관한 검토)

  • Song Dong-Keun;Suh Yoo-Hun;Woo Jong-Inn;Shin Sang-Goo;Park Chan-Woong
    • The Korean Journal of Pharmacology
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    • v.22 no.1 s.38
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    • pp.60-70
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    • 1986
  • Distributions of serum dopamine-${\beta}$-hydroxylase(DBH) activity and thermostability in a randomly selected population of Korean adults were studied to investigate the genetic factor which could exert an influence on the serum DBH activity and thermostability. The results were followings: 1. The mean serum DBH activity in a randomly selected population of adults was $18.3{\pm}4.5$ umol/min/l($mean{\pm}SD;n=327$) which showed no age or sex variation. 2. The frequency distribution showed no isolated subgroup with very low serum DBH activity. 3. When the ratio of enzyme activity after heating $55^{\circ}C$ for 20 minutes to that before heating (heated-to-control or H/C ratio). was used as a measure of thermostability, the mean serum DBH H/C ratio in a randomly selecfld population, of adults was $0.90{\pm}0.17(mean{\pm}SD; n=327)$ which showed no age or sex variation. 4. Serum DBH H/C ratio showed unimodal, homogeneous distribution. 5. There was significant negative correlation between serum DBH activity and H/C ratio(r=-0.39. p<0.01). 6. Subjects with H/C ratio less than 0.1 had significantly higher basal enzyme activity $(22.2{\pm}4.5)$ $(mean{\pm}SD;n=33)$ umo1/min/1 than those with H/C ratio more than 1.09 $(15.5{\pm}3.3)$ $(mean{\pm}SD;n=32)$ umo1/min/1. This study shows that the distribution patterns of serum DBH activity and thermostability of Korean population are considerably different from those of Caucasian and it might be a line of evidence for the different inheritance pattern of plasma DBH enzyme between these racial groups.

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Risk Factors of Childhood Obesity II (소아 비만의 위험요소에 관한 연구 II)

  • Lim, Weon-Jeong
    • Korean Journal of Psychosomatic Medicine
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    • v.7 no.2
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    • pp.213-225
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    • 1999
  • Objectives : The purpose of this study was to investigate how the play habits, temperament, and environmental factors might affect childhood obesity. Methods : Two hundred sixty children, aged 4 through 6 years living in Seoul & Cheonan were surveyed by a questionnaire about the children's play habit and the parent's related factors such as weight, height, education, income. In addition the Korean version of the Parent Temperament Questionnaire for Children and the Korean version of the Family Environment Scale were also administered to parents of those children. The height and weight of those children were measured and the percentage of body fat was measured by Bioelectrical Impedance Fatness Analyzer. Result : 1) Among 260 children, 25 children were considered to be obese on the basis of both obesity index and percentage of body fat. 2) Parents of obese children showed a significantly higher educational level(p<0.05) and mothers of obese children had significantly more jobs(p<0.05) and showed higher body mass index(p<0.05) than those of nonobese children. 3) By observing play habits of children, obese children spent significantly longer time in watching TV and video(p<0.05), while nonobese children showed a trend to play outside(p<0.1). 4) On the Korean version of the Parent Temperament Questionnaire for Children, obese children showed significantly less activity than nonobese ones(p <0.05). 5) Family of obese children had significantly higher point on subscale of Achievement orientation, Intellectual-cultural orientation and Moral-religious emphasis of the Korean version of the Family Environment Scale(p<0.05). 6) Percentage of body fat of obese children was correlated with children's watching TV time, activity level, scores of Achievement orientation, Intellectual-cultural orientation of the Korean version of the Family Environment Scale and the both parent's education levels(p<0.05). Conclusion : Obese children showed hypoactivity and more watching TV time. And obese children's both parent had higher educational level and their mother had higher Body Mass Index and more jobs. Family of obese children had higher point on items of Achievement orientation, Intellectual-cultural orientation and Moral-religious emphasis. Family environmental factors influence on children's obesity through interaction of genetic and behavioral-psychological factors concomittently.

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