• Title/Summary/Keyword: 염색체 이상

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The effects of chromium exposure on sister chromatid exchange and concentration of 8-hydroxydeoxyguanosine (크롬 폭로가 자매염색분체교환 빈도 및 8-hydroxydeoxyguanosine 농도에 미치는 영향)

  • Han, Sang-Hwan;Cho, Soo-Hun;Kim, Heon;Ha, Mi-Na;Joo, Young-Soo;Park, Soo-Min;Kwon, Ho-Jang;Kim, Yong-Dae;Chung, Myung-Hee
    • Journal of Preventive Medicine and Public Health
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    • v.28 no.2 s.50
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    • pp.511-525
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    • 1995
  • To elucidate some DNA adducts as a biological marker for workers of chromate pigment, the effects of chromium exposure on the formation of 8-hydroxydeoxyguanosine(8-OH-dG) and sister chromatid exchanges(SCEs) frequency in 38 workers of a pigment plant in Bucheon which utilized lead chromates, were examined. The chromium contents of venous blood and urine were measured as working environmental exposure level. The concentrations of 8-OH-dG in DNA isolated from lymphocytes were determined with high performance liquid chromatography and electrochemical detector and denoted as a molar ratio of 8-OH-dG to deoxyguanosine(dG). The SCEs frequency were analyzed in DNA isolated from lymphocytes. A significant correlation was found between creatinine adjusted urine chromium concentration and the molar ratio of 8-OH-dG to dG(r=0.47, p<0.01). After adjusting the current smoking habit, the correlation coefficient was increased(r=0.62, p<0.05). However, there was no significant correlation between the SCE frequency and chromium exposure. This significant results between molar ratio of 8-OH-dG to dG and chromium exposure are in good agreement with in vitro studies that support the importance of DNA adduct formation for the carcinogenic effect of chromium.

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Experimental Study for the Teratogenic Effect of Gamma-ray on the Heart of Chick Embryo (계태에서 감마선 조사에 의한 심장기형 발생에 관한 실험적 연구)

  • Jo, Yong Whan;Kim, Nam Su;Moon, Sung Yup;Yum, Myeng Gul;Kim, Sung Hoon;Chun, Ha Chung;Kim, Yong Joo;Lee, Hahng
    • Clinical and Experimental Pediatrics
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    • v.46 no.6
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    • pp.554-560
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    • 2003
  • Purpose : To investigate the teratogenic effect of gamma-ray on the heart of chick embryo. Methods : 50 rad, 100 rad, 150 rad, 200 rad, 250 rad, and 300 rad of gamma-ray were used to irradiate three days old chick embryos. The control group was not irradiated. After three weeks, the embryos were sacrificed and examined for cardiovascular malformation. Results : The survival rate of the gamma-ray irradiated group was significantly lower than that of the control group(33.3-63.3% vs 76.4%, P=0.001). The cardiac malformation rate of the experimental group was 11.0%. In the control group, no congenital cardiac malformations were observed. The experimental groups had a significantly higher malformation rate(P=0.001). The types of malformation were ventricular septal defect, tricuspid atresia, Ebstein anomaly and aortic arch anomaly. In the gamma-ray irradiated group, the cardiac malformations were : 14 small ventricular septal defects (VSDs), five large VSDs, two tricuspid atresias, and one Ebstein anomaly. The higher the dose of radiation applied, the higher the incidence of cardiac malformation was noted. Conclusion : Gamma-ray irradiation of 3 days old chick embryos increased the rate of death and the rate of cardiac malformation significantly.

The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease (가와사키병의 관상동맥 이상과 catechol-O-methyltransferase 유전자의 단일염기다형성)

  • Lee, Hyo Jin;Lee, Myung Sook;Kim, Ji Sook;Kim, Eun Ryoung;Kang, Sung Wook;Kim, Soo Kang;Chung, Joo Ho;Yoon, Kyung Lim;Han, Mi Young;Cha, Seong Ho
    • Clinical and Experimental Pediatrics
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    • v.52 no.1
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    • pp.87-92
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    • 2009
  • Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

Linkage Analysis of the Resistance Genes to Whitebacked Planthopper (Sogatella furcifera Horvath) in Rice (수도의 흰등멸구(Sogatella furcifera Horvath)에 대한 저항성 유전자 연관분석)

  • ;Mun-Hue Heu
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.29 no.2
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    • pp.136-151
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    • 1984
  • The purpose of this study is to find out the linkage relationship of the resistance genes Wbph1 and Wbph2 which are known to be present in the rice cultivar N22 and ARC 10239 respectively, with the genetic markers which are identified as the specific linkage tester. Crosses were made between the resistant parents and the genetic marker stocks and their F$_2$ populations were grown out in the field. The genetic segregations of the marker character were studied and the seeds were harvested individual plant base. These F$_3$ seeds were grown into plant-line base in the greenhouse and their responses to the whitebacked planthopper were tested. Then the linkage relationship between the F$_2$ plant marker character and the F$_3$ resistance responses to the whitebacked planthopper were examined. In the F$_2$ generation of the crosses between the resistant parent N22 and the genetic marker stocks, the genetic markers, such as lg, d-t, g, la, bl and gl, showed the segregation of 3 dominance to 1 recessiveness, and the Bh marker segregated into 9:7 ratio. Another 4 marker genes, such as Cl, gh, Lh and bc, did not show the good fittness to the expected value. In the F$_2$ generation of the crosses between the resistant parent ARC 10239 and the genetic marker stocks, the genetic markers, such as Cl, lg, Pn, g, la, bl and gl, showed the segregation of 3 dominance to 1 recessiveness, and the Bh gene segregation fitted well to the 9:7. The rest 4 genetic markers, such as gh, Lh, nl and be, did not show the good fitness to the expected ratio. The resistance genes Wbphl of N22 and the Wbph2 of ARC 10239 appeared to be single dominant gene each. The Wbphl gene was linked with the marker gene, liguleless (lg) of linkage group II with the recombination value of 36.8%, and with the black hull (Bh) with the value of 35.9%. The Wbph2 gene appeared to be independent of all the markers tested here, such as Cl, lg, Pn, g, Lh, la, nl, bl, bc, gl, Bh, of linkage gtoup I, II, III, IV, VI, VII, VIII, IX, X, XI, and XII respectively. That the Wbph2 linkage relations were not investigated was regarded as the causes that the tested marker genes on the chromosome were located with the resistance gene at the distant loci, and of the phenctypic properties of the marker characters. The Wbph2 linkage relations should be reexamined in the cross combinations of linkage group Ⅶ, Ⅷ, Ⅹ and XII including linkage group V which was not tested in this experiment.

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Impact and Prevalence of Renin-angiotensin System Gene Polymorphism of Renal Anomalies in Turner Syndrome (터너 증후군에서 신기형의 발생에 미치는 레닌-안지오텐신계 유전자 다형성의 영향)

  • Park Ji-Kyoung;Chung Young-Hee;Lee Jeong-Nyeo;Chung Woo-Yeong
    • Childhood Kidney Diseases
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    • v.7 no.1
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    • pp.52-59
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    • 2003
  • Purpose : The renin-angiotensin system(RAS) plays an important role in renal growth and development. We have studied the prevalence of renal anomalies and documented the association between karyotype and renal anomalies using IVP and ultrasonography. Furthermore, to investigate the impact of RAS gene polymorphism on renal anomaly in Turner syndrome, we examined the ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C. Methods : Cytogenetic analysis was performed in 33 Turner syndrome patients on peripheral blood lymphocytes. Ultrasonography(US) of the kidneys and collecting system and intravenous pyelography(IVP) were perfomed in all patients. Nuclear scintigraphy{Tc 99m dimercaptosuccinic acid(DMSA) scan} was also performed for the definite renal diagnosis if indicated. And, ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C were examined by PCR amplification of genomic DNA samples. Results : The prevalence of renal anolmalies in Turner syndrome was 36.4%(12/33). The Karyotype 45, X was observed in 18 of the 33 girls(54.5%), of whom 8(44.4%) had renal anomalies. Mosaic karyotypes were observed in 11(33.3%) and four(12.2%) had a non-mosaic structural aberration of the X chromosome. In this group 4(25.7%) had renal anomalies. More renal anomalies were associated with the 45, X karyotype than those with mosaic/structural abnormalities of X chromosome, but the difference was not statistically significant(P>0.05). And, there was no significant differences in the RAS gene polymorphism and allele frequencies between renal anomaly group and normal group in Turner syndrome. Conclusion : The prevalence of renal anolmalies in Turner syndrome was 36.4%. There is no significant differences in the RAS gene polymorphism and allele frequencies between the renal anomaly group and the normal group in Turner syndrome.

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Physical Dosimetry in Radioactive Iodine Treatment in the Patients with Thyroid Cancer (갑상선암 환자에 대한 방사성옥소 치료시 물리적 선량 측정)

  • Kim, Myung-Seon;Jeong, Nae-In;Lee, Jai-Yong;Kim, Chong-Soon;Kim, Chong-Ho;Lee, Myung-Chul;Koh, Channg-Soon;Kim, Hee-Geun;Kang, Duck-Won;Song, Myung-Jae
    • The Korean Journal of Nuclear Medicine
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    • v.28 no.1
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    • pp.124-132
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    • 1994
  • Radioactive iodine has been widely used in patients with thyroid cancer combined with surgical treatment. However, due to individual variations in absorption and excretion and uptake by tumor tissue of radioactive iodine, there are differences in therapeutic effect and adverse effects even if the same doses are administrated. So this study compared the therapeutic effect and radiation hazard by measuring internal radiation dose. Of total 27 patients with well differentiated thyroid cancer who had been thyroidectomized, we administered radioactive iodine 100 mCi, 150 mCi, 200 mCi. According to BEL DOSIMETRY PROTO-COL, beta and gamma ray dose were estimated from a pelt of the logarithm of the percent of dose per liter of whole blood versus day, and percent dose retained versus day using somilogarithmic paper, respectively. 1) Physical dose to whole blood averaged $56.54{\pm}13.02$ rad in 100 mCi administered group, $76.83{\pm}19.97$ rad in 150 mCi administered group, $95.08{\pm}25.51$ rad in 200 mCi administered group and there has been a significant correlation among the groups. 2) Mean percent dose retained 48 hours later was 26.34%. 3) There was no significant correlation of physical dose between absence and presence of metastasis. 4) 17 of 19 patients who has been followed up with TSH and serum throglobulin, Thallium scan were successfully ablated by radioactive iodine. 5) Leukocyte, lymphocyte, neutrophil, platelet counts all deelined in 4.6 weeks and most of all were restored 3 months later. 6) There was no significant correlation between physical dosimetry and biologic dosimetry. Generally administered doses of radioactive iodine (100-200 mCi) to patients with thyroid cancer postoperatively had developed transient bone marrow suppression and minimal chromosomal aberration, but they were within safety dose to blood (200 rad). And there has been no significant differences in residual dose 48 hours later between Korean and western people.

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p53 and c-erbB2 as the Immunohistochemical Markers in Patients with Squamous Cell Carcinoma of the Lung (편평상피 폐암 및 주위 정상조직에서 p53 및 c-erbB2 발현의 의의)

  • Song, Chang-Seuk;Ok, Chul-Ho;Jung, Yong-Seuk;Jang, Tae-Won;Jung, Maan-Hong;Lee, Jae-Seong;Jung, Hae-Jeen;Hur, Bahng;Hur, Man-Ha
    • Tuberculosis and Respiratory Diseases
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    • v.46 no.4
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    • pp.523-532
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    • 1999
  • Background: With the development of the molecular biological methods, studies of the early diagnosis of lung cancer and the detection in the preneoplastic state by using genetic probes in the high risk groups are widely investigated. In lung cancer, squamous cell carcinoma is considered to progress from the normal bronchial mucosa to the preneoplastic state, and finally to the invasive carcinoma. In this study, we investigated the expression of p53 and c-erbB2 in the normal bronchi and the cancer tissues in patients with squamous cell lung cancer to evaluate the possibility of using these immunohistochemical markers as the diagnostic and prognostic parameters of patients with squamous cell lung cancer. Method: The normal and cancerous bronchial tissues of 25 patients with squamous cell carcinoma of the lung, surgically resected from May 1995 to November 1996, were immunohistochemically stained with the monoclonal antibodies to p53(DAKO-p53) and c-erbB2(phamingen 15821A) respectively. We compared the expression status of these markers between the normal bronchial mucosa and the tumor tissue, and also investigated the relationship between the expression status of these markers in tumor tissues and the pathological stage, and the survival time. Results: The pathological stage was as follows; stage I, II were found in 5 patients respectively, stage IIIA was in 8 patients, stage IIIB was in 4 patients, and stage IV was in 3 patients. The expression rate of p53 in the squamous cell lung cancer was 48%, and it was not expressed in the normal bronchial mucosa. The expression status was increased as the pathological stage advanced(p=0.0091 by test of trend). But there were no relationship between the expression of p53 and the median survival time. C-erbB2 did not yield a significantly meaningful result. Conclusion: p53 was not found in the normal bronchial mucosa, but it was expressed in 48% of the tumor tissue. And the expression rate increased as the pathological stage advanced. So it would be helpful to apply the immunochistochemical stain with p53 in the bronchial biopsy specimen in the early diagnosis trial or staging of squamous cell lung cancer.

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Outcome of Preimplantation Genetic Diagnosis for Chromosome Aneuploidy and Genetic Disease (유전질환 및 염색체 이상의 예방을 위한 착상전 유전진단의 결과)

  • Kim, Jin-Yeong;Lim, Chun-Kyu;Song, In-Ok;Yoo, Keun-Jai;Yang, Kwang-Moon;Han, Kuk-Sun;Hur, Kuol;Song, Ji-Hong;Jun, Jin-Hyun;Min, Dong-Mi;Park, So-Yeon;Jun, Jong-Young;Koong, Mi-Kyoung;Kang, Inn-Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.29 no.4
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    • pp.269-278
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    • 2002
  • Objective s: Chromosome aneuploidy is associated with recurrent abortion and congenital anomaly and genetic diseases occur repeatedly in the specific families. Preimplantation genetic diagnosis (PGD) can prevent aneuploidy or genetic disease by selecting normal embryos before implantation and is an alternative to prenatal diagnosis. The aim of this study is to assess the outcome of PGD cycles by using FISH or PCR, and to determine the clinical usefulness and values in patients with risk of chromosomal aneuploidy or genetic disease. Materials and Methods: From 1995 to Apr. 2001, a total of 108 PGD cycles in 65 patients with poor reproductive outcome were analyzed. The indications of PGD were translocation (n=49), inversion (n=2), aneuploidy screening (n=7), Duchenne muscular dystrophy (n=5) and spinal muscular atrophy (n=2). PGD was applied due to the history of recurrent abortion, previous birth of affected child or risk of aneuploidy related to sex chromosome aneuploidy or old age. Blastomere biopsy was performed in 6$\sim$10 cell stage embryo after IVF with ICSI. In the single blastomere, chromosome aneuploidy was diagnosed by using FISH and PCR was performed for the diagnosis of exon deletion in DMD or SMA. Results: The FISH or PCR amplification was successful in 94.3% of biopsied blastomeres. The rate of transferable balanced emb ryos was 24.0% in the chromosome translocation and inversion, 57.1% for the DMD and SMA, and 28.8% for the aneuploidy screening. Overall hCG positive rate per transfer was 17.8% (18/101) and clinical pregnancy rate was 13.9% (14/101) (11 term pregnancy, 3 abortion, and 4 biochemical pregnancy). The clinical pregnancy rate of translocation and inversion was 12.9% (11/85) and abortion rate was 27.3% (3/11). In the DMD and SMA, the clinical pregnancy rate was 33.3% (3/9) and all delivered at term. The PGD results were confirmed by amniocentesis and were correct. When the embryos developed to compaction or morula, the pregnancy rate was higher (32%) than that of the cases without compaction (7.2%, p<0.01). Conclusions: PGD by using FISH or PCR is useful to get n ormal pregnancy by reducing spontaneous abortion associated with chromosome aneuploidy in the patients with structural chromosome aberration or risk of aneuploidy and can prevent genetic disease prior to implantation.

Studies on the Nutri-Culture of Major Wild Vegetable Ligularia fischeri Turcz I. Growth and Yield of Ligularia fischeri Turcz. by Media, Amount of Media and Planting Density in Nutri-Culture (곰취의 양액재배 기술 개발 I. 배지종류 , 배지량 , 재식밀도에 따른 곰취의 생육 및 수량)

  • 홍정기
    • Korean Journal of Plant Resources
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    • v.10 no.4
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    • pp.401-410
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    • 1997
  • This experiment was conducted to investigate the opimum media, media amount and planting density of nutri-culture for the high quality and yield of wild vegetable, Liguliaria fischeri Turez. The fried rice hull was recognized best media among perlite, sand and fried rice hull for nutri-culture of Ligularia fischeri Turcz. The yield on fried rice hull media at early growing stage was lower, but higher than in other media at late growing stage. Therefore, total yield in fried rice hull media was 15-29% higher than that of the existing perlite media. Growth and yield of Ligularia fischeri Turcz. were not significantly different between medium amounts, therefore considering economical efficiency and stability, the optimum medium amount was 105 $\iota/m^3$, Yield by planting density increased in the high density and 50 plants/$m^2$ was considered as proper planting density in nutri-culture of Liguliaria fishcheri Turcz.

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Molecular-epidemiologic study on outbreak of colonization by extended spectrum β-lactamase producing Klebsiella pneumoniae in neonatal intensive care unit (신생아 중환자실에서 extended spectrum β-lactamase를 생성하는 Klebsiella pneumoniae 집단 보균 발생의 분자 역학적 조사 및 추적관찰)

  • Jun, Nu-Lee;Kim, Mi-Na;Jeong, Jae-Sim;Kim, Yang-Soo;Kim, Ellen Ai-Rhan;Kim, Ki-Soo;Pi, Soo-Young
    • Clinical and Experimental Pediatrics
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    • v.49 no.2
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    • pp.150-156
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    • 2006
  • Purpose : The aims of this study included assessment of molecular-epidemiologic features during an outbreak of colonization of extended spectrum ${\beta}$-lactamase producing Klebsiella pneumoniae(ESBL-KPN) and re-evaluation of their colonized status one year later. Methods : Rectal swab cultures for ESBL-KPN from all hospitalized infants and newly admitted infants were obtained during the outbreak of colonization from July to December, 2000. The pattern of XbaI-digested chromosomal DNA of isolates were analyzed by pulsed-field gel electrophoresis. Weekly rectal swab cultures were obtained during the outbreak until patients were either discharged or decolonized. Patients discharged after being colonized had follow up stool cultures a year later. Results : A total of 80 patients(28.5 percent) were colonized. Of those, 53 whose pulsed-field gel electrophoresis(PFGE) was possible only once, were ESBL-KPN grouped into six cluster clones and 10 single clones : 28 patients(52.8 percent) were colonized with type A, the most common clone, followed by type B in 11 patients(20.8 percent). Of those 12 patients in whom serial PFGE was done more than twice, type A was predominant. Narrowed-down in strains occurred from types A, B, C, D and three single clones at initiation of the study into types A and type B after three months of strict infection control. Among 75 patients(93.7 percent) who were sent home after being colonized, 30 patients were re-called for stool cultures a year later : All of them were decolonized. Conclusion : This study demonstrates the importance of infection control as the diversity of ESBL-KPN strains could be narrowed into fewer strains. Colonization of ESBL-KPN could be reversed upon return to the community.