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TWIST1 유전자의 돌연변이가 확인된 Saethre-Chotzen 증후군 2례
고정민(Jung Min Ko),양정아(Jung-Ah Yang),정선용(Seon-Yong Jeong),윤수한(Soo Han Yoon) 대한의학유전학회 2011 대한의학유전학회지 Vol.8 No.2
Saethre-Chotzen 증후군은 상염색체 우성의 유전 방식을 보이는 두개골유합증후군(craniosynostosis)의 하나로, 원인 유전자는 TWIST1로 알려져 있다. Saethre-Chotzen 증후군의 임상 증상은 두개골유합증 중에서도 특히 관상 봉합(coronal suture)이 편측 혹은 양측으로 조기에 폐쇄되는 것이 특징적이며, 이외에도 안검하수, 낮게 위치한 귀, 청력 소실, 손발가락의 기형 등 다양한 이상이 동반될 수 있다. 저자들은 양측성 관상봉합 두개골유합증과 특징적인 얼굴 모습, 다양한 동반 기형을 보인 두 명의 환자에서 TWIST1 유전자의 원인 돌연변이를 각각 확인하고 Saethre-Chotzen 증후군을 확진하였기에, 국내에서 처음으로 보고하는 바이다. 특히, TWIST1유전자 분석은 관상봉합 유합증을 보이는 환자에서 질환을 확진하고, 및 환자와 가족에 대한 적절한 유전 상담을 제공하는데 유용한 검사로 생각된다. Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.
이광춘,정선국,정선용,조영태,박정훈,Li, Guang-Chun,Jung, Sun-Kook,Chung, Seon-Yong,Jo, Young-Tae,Park, Jeong-Hun 한국지하수토양환경학회 2011 지하수토양환경 Vol.16 No.3
The experimental studies for remediation of diesel contaminated soils were performed using subcritical water in laboratory scale. Contaminated soils from industrial area and artificially contaminated soils were utilized for soil remediation. Experimental system was composed for subcritical water to flow upward through the soil packed column for extracting contaminants. 10 g of contaminated soil was packed into the column and water flow rate was 2 mL/min. To evaluate the effects of temperature, pressure and treatment time on the removal efficiency, temperature was changed from 100$^{\circ}C$ to 350$^{\circ}C$, pressure from 50 bar to 220 bar and treatment time at the predetermined temperature from 0 min to 120 min. The purification efficiency increased as temperature increased. However, the effect of pressure and treatment time was low. Temperature 250$^{\circ}C$, pressure 50 bar and treatment time 30 min were selected for optimal operating condition for this study.
나숙현,배상옥,정수정,정선용,Na, Suk-Hyun,Bae, Sang-Ok,Jung, Soo-Jung,Chung, Seon-Yong 한국생물공학회 2010 KSBB Journal Vol.25 No.6
A new hydrogen-oxidizing bacterium, Aeromonas sp. strain JS-1, that can fix $CO_2$ via the reductive pentose phosphate cycle (Calvin-Benson cycle) under chemoautotrophic conditions but not photoautotrophic conditions was isolated from fresh water. Strain JS-1 showed considerable $CO_2$ fixation ability during continuous cultivation even at high $CO_2$ concentration. Strain JS-1 used $H_2$ and $CO_2$ fixation as energy and carbon sources, respectively. Carbon dioxide fixation is carried out through the Calvin-Benson cycle, in which ribulose-1,5-bisphosphate carboxylase/oxygenase (RubisCO) is the key enzyme. Hydrogen-oxidizing chemoautotrophic Aeromonas sp. strain JS-1 exhibited remarkedly strong RubisCO [EC 4.1.1.39] activity. RubisCO was purified as an $L_8S_8$-type hexadecamer with molecular mass of 560 kDa by gel filtration. The enzyme consisted of two different subunits eight large (56 kDa) and eight small (15 kDa), as demonstrated by SDS-PAGE. The specific activity of the purified enzyme was about 3.31 unit/mg and stable up to $45^{\circ}C$. The $K_m$ values for RuBP, $CO_2$, and $Mg^{2+}$ were estimated to be 0.25 mM, 5.2 mM and 0.91 mM, respectively.
권범근(Bum Gun Kwon),나숙현(Suk Hyun Na),임혜정(Hye Jung Lim),임채승(Chae Sung Lim),정선용(Seon Yong Chung) 大韓環境工學會 2014 대한환경공학회지 Vol.36 No.5
이 연구는 발생원내에서 다양한 미생물을 이용하여 음식물쓰레기를 액상소멸하는 감량방법에 관한 것이다. 실험에 사용된 반응기는 미생물이 담지된 목질재료의 woodchip과 스폰지가 함께 사용되었고, 일정한 주기로 음식물쓰레기가 섞이게하는 교반장치로 구성되었다. 실험기간 100일 동안 음식물쓰레기의 무게변화는 누적된 총 음식물쓰레기량 대비하여 약 99% 까지 감소하였다. 잔류된 약 1%는 음식물쓰레기내에 내재된 생물유래의 난분해성 물질(cellulose, hemicellulose, lignin 등)이 축적된 결과로 생각된다. 실험기간 동안 발생된 폐수의 성상 변화로 pH는 실험 초기 약 3.3에서 24시간 후에 약 5.8로 점차 증가한 반면, 염분, COD, BOD, SS, T-N 및 T-P의 농도는 점차적으로 감소하는 것으로 나타났다. 음식물쓰레기의 소멸반응이 진행됨에 따라 7종의 다양한 미생물들을 동정하였으며, 소멸반응 초기의 미생물 개체수는 약 3.3 × 104 cell/mL이었고 15 일 후에는 약 5.1 × 106 cell/mL로 대체로 일정한 개체수를 유지하여 소멸반응이 안정화된 것으로 생각되었다. 이들 실험 결과는 음식물쓰레기의 감량화뿐만 아니라, 미생물에 의한 유기물 분해도 동시에 이루어지고 있는 것으로 판단된다. This study investigated the reduction of food waste through the slurry phase decomposition in a source of food waste by microorganisms. The reactor used in the experiment was composed of both woodchip with wood material and sponges with polyurethane material as media of attached microorganisms, and food waste was mixed with a constant cycle consisted of a stirring device. During the experimental period of 100 days, the change in weight over the cumulative total amount of food waste added was reduced by 99%. Approximately, 1% of the residual food waste could be inherently recalcitrant materials (cellulose, hemicellulose, lignin, etc.) and thus was thought to be the result of the accumulation. The initial pH in wastewater generated from food waste was low with 3.3 and after 24 hours treatment this pH was increased to 5.8. The concentrations of COD, BOD, SS, salinity, TN and TP were gradually decreased. Food waste decay was proceeded by the seven species microorganisms identified and confirmed in this study, making a slurry phase and thus reducing residual food wastes. In the initial phase, the microbial population was approximately 3.3 × 104 cell/mL, and after 15 days this population was a constant with 5.1 × 106 cell/mL which means a certain stabilization for the reduction of food wastes. From these results, it can be considered that organic matter decomposition as well as the weight loss of food wastes by microorganisms is done at the same time.
권범근(Bum Gun Kwon),임채승(Chae Sung Lim),임혜정(Hye Jung Lim),나숙현(Suk Hyun Na),권중근(Joongkeun Kwon),정선용(Seon Yong Chung) 大韓環境工學會 2015 대한환경공학회지 Vol.37 No.5
이 연구는 영산강 수계 중 수체를 대상으로 10종의 과불화 화합물 (perfluorinated compounds, PFCs)로 인한 오염실태를 파악하기 위한 모니터링을 수행 하였다. 시료채취는 영산강 전수계에 걸쳐 있는 총 18지점에서 이루어졌고, 5-6월인 봄철과 10월인 가을철 두 번에 걸쳐 시료가 채취되었다. 10종의 PFCs 오염물을 대상물질로 하여 분석한 결과, 물 시료 중 농도는 PFOS (perfluorooctanesulfonate)가 20.8-92.0 ng/L, PFOA (perfluorooctanoate)가 method detection limit (MDL)-28.40 ng/L로 검출되었으며 PFNA (Perfluorononanoate)가 MDL-42.20 ng/L, PFHxS (perfluorohexanesulfonate)가 MDL-11.47 ng/L로 나타났다. PFOS는 봄과 가을철 모두에서 검출빈도와 그 농도가 높았고, PFOA와 PFNA는 대체로 봄철이, PFHxS의 경우는 가을철에 검출빈도와 농도가 높은 것으로 조사되었다. 하지만 상기 4종을 제외한 다른 PFCs 화학종은 검출빈도가 낮고 매우 낮은 농도인 것으로 나타났다. 하·폐수처리장이 위치한 광주의 도심지역 수계지역의 수체 시료에서 검출된 PFCs의 농도는 타 영산강수계내 수체 시료에 비해 상대적으로 높은 것으로 나타났다. To determine the concentrations of selected 10 perfluorinated compounds (PFCs), a field study was conducted in the water body of Yeongsan River Water System. Raw water samples were collected in the spring and the fall, respectively, which included 18 sampling sites. Collected samples were equally mixed and then served as an analytical sample. The concentration of perfluorooctanesulfonate (PFOS) and perfluorooctanoate (PFOA) were in range of 20.80-92.0 ng/L and ND-28.40 ng/L respectively. Perfluorononanoate (PFNA) and perfluorohexanesulfonate (PFHxS) were ranged from ND to 42.20 ng/L and from ND to 11.47 ng/L. The detection frequencies of other PFCs selected in this study were very sparse at very low concentrations, except for PFOS, PFOA, PFNA and PFHxS. PFOS was higher detection frequency and concentration in both spring and fall, PFOA and PFNA were in spring, and PFHxS was in fall. As a result, the observed concentrations of PFCs in the downtown water area of Gwangju, located in the wastewater treatment plants, were relatively higher than other sampling points.
나숙현(Suk-Hyun Na),배상옥(Sang-Ok Bae),정수정(Soojung Jung),정선용(Seon-Yong Chung) 한국생물공학회 2010 KSBB Journal Vol.25 No.6
A new hydrogen-oxidizing bacterium, Aeromonas sp. strain JS-1, that can fix CO₂ via the reductive pentose phosphate cycle (Calvin-Benson cycle) under chemoautotrophic conditions but not photoautotrophic conditions was isolated from fresh water. Strain JS-1 showed considerable CO₂ fixation ability during continuous cultivation even at high CO₂ concentration. Strain JS-1 used H₂ and CO₂ fixation as energy and carbon sources, respectively. Carbon dioxide fixation is carried out through the Calvin-Benson cycle, in which ribulose-1,5-bisphosphate carboxylase/ oxygenase (RubisCO) is the key enzyme. Hydrogen-oxidizing chemoautotrophic Aeromonas sp. strain JS-1 exhibited remarkedly strong RubisCO [EC 4.1.1.39] activity. RubisCO was purified as an L8S8-type hexadecamer with molecular mass of 560 kDa by gel filtration. The enzyme consisted of two different subunits eight large (56 kDa) and eight small (15 kDa), as demonstrated by SDS-PAGE. The specific activity of the purified enzyme was about 3.31 unit/mg and stable up to 45℃. The Km values for RuBP, CO₂, and Mg2+ were estimated to be 0.25 mM, 5.2 mM and 0.91 mM, respectively.
건식혐기소화 가스중의 악취제거를 위한 황화합물 제거균주 분리 및 탈취효과 연구
김선경 ( Sun-kyoung Kim ),강창민 ( Chang-min Kang ),정선용 ( Seon-yong Chung ),오준성 ( Joon-seong Oh ),김성대 ( Sung-dae Kim ),윤현식 ( Hyun Sik Yoon ),이정욱 ( Jung-wook Lee ) 한국환경기술학회 2011 한국환경기술학회지 Vol.12 No.2
분리된 황 화합물 분해 균주는 16S rRNA Sequence Analysis 결과 Rhodanobacter sp.으로, 기존에 잘 알려져 있던 것과는 다른 종류의 균주였다. 균주 성장의 최적조건은 pH는 7-9, 황 기질(thiosulfate) 농도는 30mM, 최적 온도는 30℃, 최적 탄소원은 Yeast extract이고, 탄소원의 적정 농도는 2%였다. 분리된 균주의 혼합유기폐기물의 소화가스에 대한 직접적 탈취효과를 측정한 결과, 분리균주를 적용한 실험에서는 암모니아(NH<sub>3</sub>)와 황화합물(H<sub>2</sub>S, CH<sub>3</sub>SH) 모두 99%이상의 높은 제거율을 나타내었으나, 대조구인 균주 미적용 실험에서는 5% 이하의 낮은 수치를 나타내어, 분리균주의 효과가 매우 높았다. 향후 균주의 대량 배양과 탈취장치의 규모확대를 통한 차기 연구가 요구된다. The desulurizing microorganism seperated from soil was Rhodanobacter sp. by 16S rRNA sequence analysis. The optimum conditions of culture were 7~9 of pH, 30℃ of temp., yeast extract of best carbon source, 30mM of thiosulfate(S<sup>2-</sup>) concentration. In dry anaerobic digestion of mixed organic waste(foodwaste: livestock manure: activated sludge:woodchip=30:20:30:20), H<sub>2</sub>S, CH<sub>3</sub>SH and NH<sub>3</sub> of its produced gas components were deodorized above 99% by Rhodanobacter sp. for sulfer compounds and Chromatium sp. for nitrogen compounds, but deodorized below 5% in not inoculation.