• Title/Summary/Keyword: 유전적 소인

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복제 소 태반과 IVF 소 태반의 protein pattern 분석

  • 김홍래;강재구;윤종택;성한우;조민래;박창식;진동일
    • Proceedings of the Korean Society of Developmental Biology Conference
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    • 2003.10a
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    • pp.90-90
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    • 2003
  • 체세포 핵이식에 의한 복제기술은 매우 낮은 성공률 나타내고 있어 실용화에 지장을 초래하고 있다. 이것은 후생적인 유전현상인 reprogramming이 불완전하게 이루어지기 때문인 것으로 추측되어지고 있다(Reik et al., Theriogenology 2003, 59: 21-32; Han et al, Theriogenology 2003, 59: 33-44). 체세포 핵이식 후에 태아사망의 원인이 태반의 비정상적인 기능과 관계가 있는 것으로 추정되는데 복제시 태아사망의 원인을 찾기 위해 본 연구를 시행하였다. 한우에서 체세포 복제 후 임신 말기에 태아가 사망한 태반조직 3개와 IVF 수정란 이식 후 동일한 시기에 제왕절개술을 실시한 태반조직 2개를 실험에 이용하였다. 태반 protein을 Two-Dimensional electrophoresis와 Mass spectrometer를 이용하여 분석 비교하였다. IPG-system을 이용하여 pH 4~7, pH 6~9에서 1차 전기영동을 한 후, 8~l6%의 SDS-PAGE gel에 2차 전기영동을 실시하였고 G-250 Coomassie로 염색하였다. gel 이미지는 Malanie III program을 이용하여 분석하였다. 전체 gel에서 약 1800개의 구분 가능한 protein spot이 나타났다. pH 4~7 범위에서 양적으로 차이나는 것 15개 중 복제한우 태반에서 증가되는 protein spot 5개와 감소하는 protein spot 10개를 골라 protein identification을 실시하였다. MALDI-TOF-MS를 이용하여 동정한 결과 phosphatidylinositol transfer protein-$\alpha$와 interleukin-18 등의 protein이 복제태반에서 발현이 증가되었고, 복제한우에서 발현이 감소되는 것으로는 vimentin, Rho-GDI-$\beta$, TRAST $\beta$-chain, ovarian sterol carrier protein 2, triosephosphate isomerase, tropemyosin beta chain, Aldose reductase 등으로 나타났다. 이러한 protein들은 inositol 지질 신호전달과 면역시스템, 세포분열, 산소 운반, steroidogenic 세포에서의 콜레스테롤 이동, 촉매 작용, 대사 작용 등에 중요한 역할을 하는 것으로 알려져 체세포 복제에 의한 태아사망 원인은 태반에서 이러한 protein들의 비정상적인 발현에 기인된 것으로 추정된다.

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SECKEL SYNDROME : CASE REPORTS (SECKEL 증후군 환자의 증례보고)

  • Kim, Chu-Sung;Kim, Jae-Gon;Baik, Byeong-Ju;Yang, Yeon-Mi;Jeong, Jin-Woo
    • Journal of the korean academy of Pediatric Dentistry
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    • v.37 no.1
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    • pp.124-129
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    • 2010
  • Seckel syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation and post-natally by dwarfism, severe microcephaly, bird-headed profile with receding chin, prominent nose, joint defects, clubfoot, sparse hair, malformation of genitourinary tract and rectum, mental retardation and hematological disorders. There is also a reduction in the number of blood cells. Dental anomalies of Seckel syndrome are crowded teeth with malocclusion, enamel hypoplasia, absence of some teeth and taurodontism. This report described the oral and maxillofacial manifestations of children associated with Seckel syndrome. Children with Seckel syndrome have several dental and skeletal irregularities. The purpose of this study was to report the dental and medical characteristics of the patient and review the literatures of Seckel syndrome.

Dental Management in a Child Patient with Glucose-6-phosphate Dehydrogenase Deficiency : A Case Report (포도당-6-인산탈수소효소 결핍증 환아의 치과적 관리)

  • Jeon, Jiyoon;Yang, Sunmi;Choi, Namki;Kim, Seonmi
    • Journal of the korean academy of Pediatric Dentistry
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    • v.48 no.3
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    • pp.359-366
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    • 2021
  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder and is the most common enzyme deficiency worldwide. Although this disease is rare in Korea, its prevalence may increase due to an increase of multicultural families. Patients with this deficiency are prone to hemolytic anemia provoked by specific drugs commonly used or prescribed in pediatric dentistry. It is necessary for pediatric dentists to have accurate knowledge of a patient's medical history and to consult with a pediatric hematologist to avoid oxidative stress that can lead to hemolysis. The most effective treatment is prevention of exposure to factors that may trigger anemia. Appropriate education regarding risk factors is essential for patients diagnosed with this disease. This case report aimed to discuss the drugs and dental management methods that should be cautious in children with G6PD deficiency.

Medium-chain Acyl-CoA Dehydrogenase Deficiency in an Asymptomatic Neonate (무증상 신생아에서 진단된 중쇄 acyl-CoA 탈수소효소 결핍증 1례)

  • Kyung, Yechan;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Cho, Sung Yoon;Jin, Dong-Kyu;Lee, Jeongho;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.1
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    • pp.35-39
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    • 2015
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common mitochondrial fatty acid oxidation disorder which is inherited as an autosomal recessive pattern. MCAD deficiency is caused by mutations in the ACADM gene; medium-chain acyl-CoA dehydrogenase gene (ACADM; OMIM 607008) on chromosome 1p31 which encodes MCAD, the mitochondrial enzyme which catalyzes the first reaction in beta-oxidation of fatty acids with medium-chain length. Here, we describe one Korean pediatric case of MCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of hexanoyl (C6), octanoyl (C8), decenoyl (C10:1) carnitine, and C8/C2 ratio was elevated. Homogenous c.1189T>A (p.Tyr397Asn) mutation of ACADM gene was identified by direct sequencing. He has been asymptomatic and has shown normal growth and development by 25 months of age without any intervention. There was no episode of metabolic acidosis during follow-up period.

Effects of Ballet Program Training of Royal Academy of Dance on Body Composition, Physical Fitness and Bone Mineral Density in College Women (로얄 아카데미 발레댄스 프로그램 수행이 여자 대학생의 신체조성, 체력 및 골밀도에 미치는 영향)

  • Kim, Jong-Won;Lee, Mi-Ran;Lee, Kyung-Hee;Kim, Hyung-Jun;Choi, Mun-Ki;Kim, Do-Yeon;Kim, Tae-Un
    • Journal of Life Science
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    • v.19 no.8
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    • pp.1093-1103
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    • 2009
  • The purpose of this study was to analyze the effects of ballet program training at the Royal Academy of dance (RAD) on body composition (BC), physical fitness (PF) and bone mineral density (BMD) in college women. The subjects for this study were 14 females aged 19 to 22, who were divided into the Experimental group (n=7, EG) and the Control group (n=7, CG). The RAD ballet program training was done by 7 subjects (EG), 60 minutes per day, three times a week for 12 weeks. The TBF and %fat significantly decreased and LBM increased in the Experimental group, but all the variables of Body composition in the Control group did not significantly changed. The AMS, Sit ups, STF, SLJ CFB and 1,200 m R & W in the EG significantly increased, but 1,200 m R & W in the CG decreased. The lumbar vertebra (LV), femoral neck (FN), greater trochanter (GT) and ward's triangle (WT) did not significantly change in the EG, but LV, GT and WT in the CG decreased. There was no significant difference in osteopenia for EG, but there were increases in GT and WT for the CG. There was significant correlation between BMDs and body weight, TBF, LBM, %fat, BMI, AMS. There was significant correlation between LV and FN and LV and whole body. In conclusion, regular and continuous RAD training was effective in improving the body composition, physical fitness and bone mineral density. Consequently, RAD training will be effective for preventing osteopenia and osteoporosis, and for improving the health-related fitness for college and middle-aged women.

Innate Immunity and Genetic Susceptibility to Severe Respiratory Syncytial Virus Infection : Lack of an Association with Mannose Binding Lectin Gene Polymorphism (심한 Respiratory Syncytial Virus 감염증과 선천성 면역에 관련된 유전적 소인에 관한 연구 : Mannose Binding Lectin 유전자 다형성)

  • Choi, Eun Hwa;Kim, Hee Sup;Yun, Bo Young;Choi, Seung Eun;Nah, Song Yi;Kim, Dong Ho;Park, Ki Won;Lee, Hoan Jong
    • Pediatric Infection and Vaccine
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    • v.13 no.1
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    • pp.63-70
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    • 2006
  • Purpose : We hypothesized that mannose binding lectin gene(MBL2), a key molecule of innate immunity, may contirbute to the development and the outcome of respiratory syncytial virus(RSV) disease in early childhood. This study was performed to investigate the genetic basis of polymorphisms and haplotypes of MBL2 for RSV disease severity in Korean children. Methods : Cases with severe RSV diseases are 99 children with severe RSV lower respiratory tract infections, who were admitted to the Seoul National University Children's Hospital through 1993~2000. The control subjects consisted of 224 anonymous healthy Korean blood donors. The frequency of promoter variant(-221, X/Y) and structural variant(codon 54) were compared between the case patient group and the control subject group. Results : The mean age of patients was 11.8 months; 49% were <6 months, 39% were 6-24 months and 12% were >24 months. In the cohort of cases of severe RSV diseases, the genotypic frequencies of structural variant in codon 54 were 61% for AA, 34% for AB, and 5% for BB. Those of the promoter X/Y variant were 85% for YY and 15% for XY. There were no significant differences in overall distribution of both structural and promoter variants between the cases and the control subjects. We did not observe statistical difference in the haplotypic frequencies of MBL2. Conclusion : Common variants of MBL2 gene most likely do not contribute to the risk for severe RSV diseases in Korean children. Further genetic association studies should be conducted in a larger propsectively recruited cohort of children with RSV infection.

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Hypoxia and NF-${\kappa}B$; The Relation to Chemoresistance (저산소증과 NF-${\kappa}B$의 항암제내성과의 연관성 고찰)

  • Yoon, Seong-Woo
    • Journal of Korean Traditional Oncology
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    • v.15 no.1
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    • pp.119-128
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    • 2010
  • 항암치료는 현재 암환자의 주요한 치료임에도 불구하고 항암제내성과 같은 문제점을 가지고 있다. 약물내성은 다양한 기전에 의해 발생하는데 수송단백질의 과발현, 비독성화발현, 손상유전자의 복구, 세포사멸신호의 변화, STAT-3와 NF-${\kappa}B$의 발현 등이 포함된다. 암세포는 저산소환경에서 발생하며 일반세포에 비해 무산소해당에 상대적 의존도가 높고 이는 암세포의 성장과 전이를 촉진하는 인자가 된다. 항암제가 효과를 내기 위해서는 산소가 필요한데 저산소환경은 이를 방해하며 또한 유전자의 불안정화로 인해 약물내성이 유도된다. NF-${\kappa}B$는 주요 전사인자 중 하나로서 각종 염증과 암에서 지속적으로 활성화되며 암세포의 변화, 증식, 침윤, 전이에 관여한다. 환경적 스트레스 등과 대부분의 항암약제들이 NF-${\kappa}B$를 활성화시키며 임상적으로도 암환자의 생존과 연관된 중요한 예후인자이다. NF-${\kappa}B$의 발현은 항암제로 인한 암세포의 자멸을 회피하게 만들고 수송단백질을 활성화시켜 항암제내성을 유도한다. 강황, 적포도, 고추, 건칠 등 다양한 천연물에서 NF-${\kappa}B$를 억제시키는 효능이 발견되었으며 이는 항암제내성을 억제시키고 항암제의 효과를 증대시킨다. 저산소환경의 개선과 NF-${\kappa}B$의 억제는 상호연관성을 가지고 있으며 항암제내성의 개선뿐만 아니라 암치료제 개발의 새로운 연구목표가 될 수 있다.

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Varietal Differences of Pod Shedding (땅콩 낙협 정도의 품종간차이)

  • 진일두;김규태
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.36 no.6
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    • pp.532-539
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    • 1991
  • This study was conducted to screen genetic stock for resistant to pod shedding. Materials used were 7 recommended varieties in Korea and 211 introduced varieties containing 94 Virginia type, 99 Spanish type and 18 Valencia type varieties. the days from seeding to first anthesis. number of mature pods per plant. 100 seeds weight and shedded pod ratio per total mature pod at harvesting were investigated. And the breaking tensile strength required to detach a pod from its gynophore was measured at a proper time for harvesting of each variety. In addition. factors related to pod shedding were discussed. The first anthesis of Spanish and Valencia types were earlier than that of Virginia type, but Korean recommended varieties which were recognized as Virginia type had relatively earlier anthesis. The varieties of Spanish type yielded more pods compared with those of Valencia and Virginia types. but Korean recom-mended varieties yielded slightly more pods than the others. Seeds weight of Korean recommended varieties was larger than not merely those of Spanish and Valencia types which were small seeds but also those of Virginia type which were large seeds. The breaking tensile strengths between pod and gynophore were various among the varieties belonging to same type. The strength was relatively strong in the Spanish type, but weak in both Virginia type and Korean recommended varieties. Therefore, pod shedding in the varieties of Spanish type was low and high in Virginia type and Korean recommended varieties. There were positive or negative correlations at the 0.1 % significan level among the days to first anthesis. number of pods per plant. seed weight, breaking tensile strength and shedding ratio. The pod shedding is considered a compound character that is affected by the factors such as breaking tensile strength between pod and gynophore, number of pods per plant and seed size.

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Association Study Between Dopamine Transporter Gene 40 bp VNTR and Antipsychotics-Induced Restless Legs Syndrome (도파민 수송체 유전자 다형성과 항정신병약물로 유발된 하지불안증후군의 연관성 연구)

  • Kang, Seung-Gul;Lee, Heon-Jeong;Choi, Jung-Eun;Kim, Leen;Jung, In-Kwa
    • Sleep Medicine and Psychophysiology
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    • v.15 no.1
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    • pp.39-43
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    • 2008
  • Objectives: The pathophysiology of restless legs syndrome (RLS) is not obvious, but many promising theories involve dopaminergic deficiency and genetic causes. The RLS is presumed to occur more frequently among schizophrenic patients who take antipsychotics, most of which blocks the dopamine receptors. This study aimed to investigate whether dopamine transporter gene (DAT1) 40 base pair (bp) variable number of tandem repeat (VNTR) polymorphism is associated with the antipsychotic-induced RLS in schizophrenia. Methods: We determined the diagnosis of RLS among the 190 Korean schizophrenic patients by the diagnostic criteria of the International Restless Legs Syndrome Study Group (IRLSSG). Genotyping was performed for the 40bp VNTR in DAT1 gene using polymerase chain reaction. Results: We separated the schizophrenic patients into 44 patients with RLS and 146 patients without RLS. The genotype and allele frequencies did not differ significantly between two groups. Conclusions: These results suggest that DAT1 gene 40bp VNTR is not associated with the antipsychotic-induced RLS in schizophrenia. To confirm these results, larger-scale association study is needed in the future.

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NKNLTS 비납계 압전체의 도핑원소에 따른 특성평가

  • Lee, Yun-Gi;Park, Eun-Hye;Ryu, Seong-Rim;Gwon, Sun-Yong
    • Proceedings of the Korean Institute of Electrical and Electronic Material Engineers Conference
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    • 2009.11a
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    • pp.83-83
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    • 2009
  • 우수한 압전성을 가지는 PZT는 인체에 유해한 다량의 PbO을 함유하여 심각한 환경문제를 야기함은 물론 제조 공정 중 PbO 휘발 억제 시설 구비에 따른 경제적 부담 등 문제점이 지적되었다. 따라서 환경오염 및 가격경쟁력을 갖추기 위해 현재 무연 조성 세라믹스에 대한 많은 연구가 진행되고 있다. 최근 비납계 압전 세라믹의 연구는 비스무스 레이어형과 페로브스카이트 형 비납계 세라믹스의 연구가 활발히 진행되고 있다. 특히 $(Na,K)NbO_3$ 계는 페로브스카이트 구조를 가지는 비납계 세라믹으로 현재 많은 연구가 진행되고 있다. 이 물질은 PZT계와 유사하게 상전이(morphotropic phase boundary:MPB)영역을 가지고 있 으며 이 영역에서 높은 압전 특성을 보여주고 있다. 최근 $Na_{0.5}K_{0.5}NbO_3$$LiTaO_3$를 치환하여 우수한 압전 특성을 지니는 조성이 개발되고 있지만, 보통 소성법으로 제조된 세라믹스는 PZT계 세라믹스와 비교하여 특성이 떨어진다. 본 연구에서는 압전성이 우수한 $(Na_{0.44}K_{0.52}Li_{0.44})(Nb_{0.90}Sb_{0.06}Ta_{0.04})O_3$ 조성에 도너 도핑과 억셉터 도핑을 한 다음 전기기계결합계수, 압전상수, 유전상수의 변화를 평가하고, hardener 와 softener 특성이 본조성에서 나타나는지를 관찰하였다. 실험방법은 보통 소성법을 사용하였으며, 분쇄와 혼합은 직경 3 mm zirconia ball을 사용하여 볼밀 하였다. $850^{\circ}C$ 에서 5h 하소 후 $1100{\sim}1200^{\circ}C$ 에서 소결하고, 두께 1 mm로 연마한 다음 silver paste를 $650^{\circ}C$ 에서 소부하여 전극을 형성하였다. 제작된 시편은 $90^{\circ}C$의 실리콘유에서 3~4 kV/mm의 전계를 가해 20분간 분극 처리를 수행하였다. 제작된 시편의 압전전하 상수 값은 d33-meter(APC-8000)를 이용하여 측정하였고, 유전율, 전기기계결합계수 및 기계적품질계수 등은 임피던스 분석기 (impedance/gain phase analyzer)를 이용하여 특성을 측정 하였다. 또한 전압-분극 특성의 평가에는 강유전특성 측정기(ferroelectric tester: Precision-LC, Radiant Technologies, USA)를 이용하였다.

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