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반성 열성 범저감마글로불린혈증 1가계 3환자의 Bruton's Tyrosine Kinase 유전자 변이 및 임상 양상
조은경,송창화,박정규,백영종,유혜영,이재호,황태주,국훈,Jo, Eun-Kyeong,Song, Chang-Hwa,Park, Jeong-Kyu,Baek, Young-Jong,Rhu, Hye-Young,Lee, Jae-Ho,Hwang, Tai-Ju,Kook, Hoon 대한소아청소년과학회 2002 Clinical and Experimental Pediatrics (CEP) Vol.45 No.2
목 적 : 본 연구에서는 임상적으로 XLA로 진단받고 현재 치료 중인 한가족 3명 환아의 가계를 대상으로 말초혈액 단핵구의 Btk 단백질 발현과 Btk 유전자 변이를 분석하고자 하였다. 방 법 : 환아 말초혈액 단핵구의 Btk 발현도를 항 Btk 항체를 이용한 유세포계측을 통해 분석하고 PCR-SSCP 및 직접 염기서열 분석에 의해 Btk 유전자 변이를 분석하였다. 결 과 : 유세포 계측 및 PCR-SSCP에 의하여 가계내의 환자 3명 및 보인자 4명을 확인하였으며 환아들의 단핵구의 Btk 발현도를 조사한 결과 2.7% 미만으로 건강인에 비해 매우 유의한 감소를 나타내었다. 유전자 변이 분석 결과 Btk 유전자 exon 3에서 점돌연변이($T{\rightarrow}C$)가 발견되어 61번째 아미노산의 치환이 일어난 과오돌연변이를 확인할 수 있었다. 동일한 유전형을 지닌 3명의 환아들은 임상적으로 매우 다양한 표현형을 나타내었다. 특히 환아들의 혈청 IgG level이 낮을수록 임상 양상은 심한 소견을 보였다. 결 론 : 본 연구 결과를 종합해 볼 때 임상적으로 XLA로 진단된 환아와 가족에 대한 항 Btk 항체를 이용한 유세포계측 및 PCR-SSCP 방법은 XLA 환아 및 보인자의 진단에 매우 유용하며 신속하게 적용될 수 있는 기법으로 생각된다. 또한 분자유전학 기법을 이용하여 환아의 유전자 변이를 검색한 결과 Btk의 PH 도메인 내 한개의 과오돌연변이를 검색하여 XLA를 최종 확진할 수 있었다. Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied the cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells from two siblings and one cousin with XLA, as well as additional family members. Methods : Btk protein expression was analyzed by flow cytometry. Isolation of the coding sequence of the Btk gene was performed by amplification using the reverse transcription-polymerase chain reaction(RT-PCR) technique. Sequence alterations were screened by the single-stranded conformation polymorphism(SSCP) method and characterized by standard sequencing protocols. Results : Cytoplasmic expression of Btk protein in monocytes was not detected in three patients with XLA. In addition, Btk protein analysis clearly showed cellular mosaicism in monocytes from four obligate carriers, findings further supported by SSCP. A single base pair mutation(T to C) in Btk-exon three, which encodes the PH domain, was identified in four XLA patients. A diagnostic sequencing analysis was established to detect heterozygotic pattern in 4 carrier females. Furthermore, we found significant clinical heterogeneity in individuals with the same gene mutation. Conclusion : The implicating genetic alteration provided valuable clues to the pathogenesis of XLA in Korea and the flow cytometric analysis was suggested as a useful tool for rapid detection of XLA patients and carriers. The present study has identified a genetic mutation in the Btk coding region and demonstrated heterogeneity in clinical manifestations among patients with the same mutation. A flow cytometric analysis was found to be informative in establishing a deficiency of Btk protein in both patients and carriers and is recommended as a frontline procedure in the molecular diagnosis and work-up of XLA.
CO₂레이저를 이용한 산업용 임의형상제작 시스템의 온도 성능 및 소결실험
김동수(Dong-Soo Kim),안영진(Young-Jin An),백영종(Young Jong Baek) 대한기계학회 2005 대한기계학회 춘추학술대회 Vol.2005 No.5
Solid Freeform Fabrication (SFF) using CO₂ laser is one of the Rapid Pototyping It is used to fabricate in a short time any 3 dimensional shapes by layer-by-layer sintering of polymer, ceramic or metal powder. To develop this SFF system, it needs effective laser scanning path, temperature and z-axis control for lamination. This study has applied 3-axis Dynamic Focusing Scanner for scanning large area instead of the existing fθ lens using commercial Selective Laser Sintering (SLS). Also the structure analysis and the development of control algorithm for sintering process have performed. In this study, the temperature evaluation for sintering process has performed and the sintering test of polyamid is now in process.
치자(梔子)의 규격 기준 모니터링 및 HPLC 표준크로마토그램 연구
김경희 ( Kyoung Hee Kim ),김선미 ( Sun Mi Kim ),신승훈 ( Seung Hoon Shin ),이영종 ( Young Jong Lee ),백완숙 ( Wan Sook Baek ) 대한본초학회 2017 大韓本草學會誌 Vol.32 No.2
Objectives : Gardeniae Fructus is a ripe fruit of Gardenia jasminoides Ellis, which has been used as traditional medicines for anti-inflammatory, diuretic, antipyretic, and antibacterial activity. The aim of this study was to compare of Gardeniae Fructus in South Korea collected during three years according to the standards in monographs of the Korean Pharmacopoeia Eleventh edition (KP11). Methods : 30 items of Gardeniae Fructus from two cultivation regions were classified into dried(n=15) & steamed (n=15) and tested according to the standards in monographs of the KP11. Gardeniae Fructus was carried out identification(comparison of colors, thin layer chromatography), heavy metals, residual pesticides, total ash, and assay registered at KP11. Add to we tested loss on dry, contents of ethanol-soluble extracts, and HPLC profiling. Results : In TLC chromatogram of identification test, the spot of gardenoside and geniposide were observed at Rf value of about 0.3 and 0.5. Heavy metals and residual pesticides met the requirements of the standards for all samples. The results of total ash of each samples are measured maximum 4.87 %. According to HPLC for assay, the samples contain 4.80∼6.10 % of geniposide and 0.45∼1.83 % of gardenoside. Conclusion : We have verified the current specification standard of Gardeniae Fructus and standard that is not set. By the results, it is proposed a new draft of loss on drying and confirmed the content of gardenoside revised. HPLC standard chromatogram of Gardeniae Fructus is proposed. We hope that it will help the standardization of Gardeniae Fructus.
산사(山?)의 규격 기준 모니터링 및 HPLC 표준크로마토그램 연구
김경희 ( Kyoung Hee Kim ),김선미 ( Sun Mi Kim ),이영종 ( Young Jong Lee ),백완숙 ( Wan Sook Baek ) 대한본초학회 2017 大韓本草學會誌 Vol.32 No.1
Objectives : Crataegi Fructus has been used as traditional medicines for more digestion action, amenorrhea due to blood stasis, and hyperlipemia. The aim of this study was to compare of Crataegi Fructus in South Korea collected during three years according to the standards in monographs of the Korean Pharmacopoeia Eleventh edition (KP 11). Methods : Crataegi Fructus was carried out identification test (Qualitative reaction, Thin layer chromatography), heavy metal test, and total ash registered at KP. Add to we tested loss on dry, contents of ethanol-soluble extracts, and HPLC profiling. Results : Identification test (TLC) was on comparing with ursolic acid standard solution in Rf value, all samples showed red purple spot (Rf value 0.9). Ursolic acid spot in Rf value 0.35 showed by changing mobile phase condition. Heavy metals showed contents for Pb, Cd, As, and Hg range of 0.0 ∼ 0.5 ppm, 0.0 ∼ 0.2 ppm, 0.0 ∼ 0.3 ppm, and 0.0 ∼ 0.1 ppm. Loss on drying was ranged from 5.5 to 11.9 %, total ash was between the range 2.7 ∼ 4.0 %. Contents of ethanol-soluble extracts was ranged from 17.8 to 44.9 %. The content of chlorogenic acid was ranged from 0.0 to 0.1 % based on the chlorogenic acid standard curve. Conclusion : We have verified the current specification standard of Crataegi Fructus and standard that is not set. We hope that it will help the standardization of Crataegi Fructus.
이두용(Doo Yong Lee),곽성조(Sung Jo Kwak),황면중(Myun Joong Hwang),박남수(Nam Soo Park),백영종(Young Jong Baek) 대한기계학회 2006 대한기계학회 춘추학술대회 Vol.2006 No.6
This paper presents the optimal process control of newly developed SFFS (Solid Freeform Fabrication System). The process control of SFFS consists of nitrogen supplement, temperature setting, powder laminating, and laser sintering. The temperature setting has three steps of preheating, sustaining, and cooling as the process progresses. Powder laminating and laser sintering are carried out sequentially when the temperature reaches the desired point. The process is controlled by a PC-based controller which also supports a user-friendly interface and easy access for the parameters setting.
IT 부품용 마그네슘 합금의 고속 탭핑가공에 관한 연구
이상민(Sang-Min Lee),박휘근(Hwi-Keun Park),이원석(Won-Seok Lee),김택수(Taeck-Su Kim),채승수(Seung-Soo Chae),이충석(Choong-Seok Lee),백영종(Young-Jong Baek),조현택(Hyun-Taek Jo),이영식(Young-Sik Lee),이종찬(Jong-Chan Lee) 한국기계가공학회 2012 한국기계가공학회지 Vol.11 No.3
This paper reports some experimental results in high speed rigid tapping of magnesium alloy(AZ91D). M3 spiral tap and high speed spindle tapping center of gantry type were used in experiments and thrust forces were measured. The experimental results indicate that the thrust forces are proportional to the spindle speed and depth of cut. The thrust forces increase as the depth of cut increases. M3 Tapping was achieved at the spindle speed of 10,000rpm, depth of cut of 1.5D and total stroke of 32mm.