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Characterization of Mutations in Bruton's Tyrosine Kinase(Btk) Gene from Unrelated 3 X-linked Agammaglobulinemia(XLA) Families in Korea (국내 X-관련성 범저감마글로불린혈증 세가족에 대한 Bruton's Tyrosine Kinase 단백질 발현 및 유전자 변이 분석)

  • Song, Chang-Hwa;Jo, Eun-Kyeong;Park, Jeong-Kyu;Kim, Jung-Soo;Hong, Soo-Jong;Lee, Jae-Ho
    • Clinical and Experimental Pediatrics
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    • v.45 no.3
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    • pp.302-310
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    • 2002
  • 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 cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells(PBMC) from three XLA families in Korea. Methods : Heparinized venous blood samples were collected from four XLA patients and additional family members in three unrelated XLA families. Mononuclear cells were separated from their blood and the intracellular Btk protein was characterized by a flow cytometry. The mutation analysis was performed using direct sequencing. Results : Cytoplasmic expression of Btk protein in monocytes was not detected in the patients with XLA. We observed a novel deletion and two point mutations within introns(intron 1 and intron 18) resulting in alternative splicings. In XLA family 2, a 980 bp deletion(from intron 9+191 T to intron 10-215 C) including exon 10 was found in patient P2. He was the only sporadic case in this study, because his mother and brother showed a normal Btk expression by flow cytometry. Conclusion : These identified genetic alterations support the molecular heterogeneity of Btk gene in XLA disease. Additionally, by means of flow cytometric analysis, we diagnosed three hypogammaglobulinemia patients as XLA. Advancements in diagnostic methods has facilitated a prompt and definite diagnosis of this disease.

Optimization of DNA sequencing with plasmid DNA templates using the DNA sequencer (Plasmid DNA template를 이용한 DNA 염기서열 분석기기의 최적 조건 확립)

  • Lee, Jae-Bong;Kim, Jae-Hwan;Seo, Bo-Young;Lee, Kyeong-Tae;Park, Eung-Woo;Yoo, Chae-Kyoung;Lim, Hyun-Tae;Jeon, Jin-Tae
    • Journal of agriculture & life science
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    • v.43 no.2
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    • pp.31-38
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    • 2009
  • The DNA sequencer is known to be more sensitive for the quality of template DNA, method of purification followed by sequencing reaction, and gel concentration. Therefore, we investigated optimal conditions for template preparation, purification, sequencing reaction, gel concentration, and injection medium. For plasmid prepara- tion, using chloroform instead of phenol improved the average read length from 532 bp to 684 bp. The addition of 2.5% DMSO sequencing PCR reaction resulted in 200 bp longer sequences. Purification using 50 mM EDTA and 0.6 M Sodium acetate(pH 8.0) presented 20 bp longer sequences than that using 50 mM EDTA(pH 8.0) and 0.6 M sodium acetate(pH 5.2). The injection for sequencing analysis using ABI formamide presented 90 bp longer sequences than that of using formamide deionized by resin. Moreover, there were 150 bp more readable sequences in 3.6% PAGE gel than in 4%. Consequently, it was concluded that an average of 700 bp per reaction with 85% accuracy can be obtained by the following optimal conditions: template preparation using chloroform, 2.5% DMSO, 50 mM EDTA and 0.6 M sodium acetate(pH 8.0), ABI formamide and 3.6% gel concentration.

Characterization of a Korean Domestic Cyanobacterium Limnothrix sp. KNUA012 for Biofuel Feedstock (토착 남세균 림노트릭스 속 KNUA012 균주의 바이오연료 원료로서의 특성 연구)

  • Hong, Ji Won;Jo, Seung-Woo;Kim, Oh Hong;Jeong, Mi Rang;Kim, Hyeon;Park, Kyung Mok;Lee, Kyoung In;Yoon, Ho-Sung
    • Journal of Life Science
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    • v.26 no.4
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    • pp.460-467
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    • 2016
  • A filamentous cyanobacterium, Limnothrix sp. KNUA012, was axenically isolated from a freshwater bloom sample in Lake Hapcheon, Hapcheon-gun, Gyeongsangnam-do, Korea. Its morphological and molecular characteristics led to identification of the isolate as a member of the genus Limnothrix. Maximal growth was attained when the culture was incubated at 25℃. Analysis of its lipid composition revealed that strain KNUA012 could autotrophically synthesize alkanes, such as pentadecane (C15H32) and heptadecane (C17H36), which can be directly used as fuel without requiring a transesterification step. Two genes involved in alkane biosynthesis-an acyl-acyl carrier protein reductase and an aldehyde decarbonylase-were present in this cyanobacterium. Some common algal biodiesel constituents-myristoleic acid (C14:1), palmitic acid (C16:0), and palmitoleic acid (C16:1)-were produced by strain KNUA012 as its major fatty acids. A proximate analysis showed that the volatile matter content was 86.0% and an ultimate analysis indicated that the higher heating value was 19.8 MJ kg−1. The isolate also autotrophically produced 21.4 mg g−1 phycocyanin-a high-value antioxidant compound. Therefore, Limnothrix sp. KNUA012 appears to show promise for application in cost-effective production of microalga-based biofuels and biomass feedstock over crop plants.

Review of the developmental trend of implant surface modification using organic biomaterials (생체활성 유기물로 표면이 개질된 임플란트 개발 추이 분석 연구)

  • Hwang, Sung-Taek;Han, In-Ho;Huh, Jung-Bo;Kang, Jeong-Kyung;Ryu, Jae-Jun
    • The Journal of Korean Academy of Prosthodontics
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    • v.49 no.3
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    • pp.254-262
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    • 2011
  • Purpose: This study aims to evaluate and prospect for current research trend and developmental perspectives via analyzing recent biomaterial coated-implants study. Materials and methods: To investigate each subject respectively, several biomaterials that are using for implant surface coating were set as 'keywords'. By these keywords, major research groups in each subject were chosen, and research trend of them was analyzed. Trend of In vivo studies that examined selected biomaterials were analyzed to evaluate commercial potential. Results: The collagen research accounted for 40% of total implant study, which was the highest, and fibronectin, BMPs (bone morphogenetic proteins) and RGD (Arg-Gly-Asp) peptides followed, which were ranked in descending order. Furthermore, figures of all four research subjects were also increased with time, especially a sharp increase in RGD research. According to the results of major research group, collagen that was combined with other organic and inorganic biomaterials was mostly examined, rather than using collagen only. Major research groups investigating BMPs mostly focused on rhBMP-2. In animal studies, collagen was used as resorbable membrane in guided bone regeneration (GBR) or drug carrier, while BMPs were used with bone graft materials or coating material for titanium implant surface. Conclusion: There is not consistency of results even in identical subjects research field. Many studies are ongoing to optimize combination between mechanical surface treatment and biomaterials such as extracellular matrix component and growth factors.

Evaluation of Psychosocial Impact and Quality of Life in BRCA Mutation Family (BRCA 돌연변이 가계의 심리상태 및 삶의 질 평가)

  • Han, Sang-Ah;Kim, Sai-Rhee;Kang, Eun-Young;Kim, Jeong-Hyun;Ha, Tae-Hyeon;Yang, Eun-Joo;Lim, Jae-Young;Han, Won-Shik;Noh, Dong-Young;Kim, Sung-Won
    • Journal of Genetic Medicine
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    • v.7 no.1
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    • pp.67-77
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    • 2010
  • Purpose: The aims of this study are to evaluate psychological impact and quality of life according to the cancer diagnosis and mutation status in Korean families with BRCA mutations. Materials and Methods: Seventeen affected carriers (AC), 16 unaffected carriers (UC) and 13 healthy non carriers (NC) from 13 BRCA mutation families were included in the study. Outcomes were compared with regard to depression (Beck Depression Inventory), anxiety (State-Trait Anxiety Inventory, STAI), optimism (Reevaluation of the Life Orientation test, LOT-R), knowledge of hereditary ovarian cancer, and quality of life (QoL) (SF-36v2 Health Survey, physical component score [PCS], mental component score [MCS]) among three groups. Result: Level of depression, optimism, and PCS were similar in AC, UC, and NC. Anxiety score was elevated in all three groups. MCS was significantly low in AC than in UC and NC (P=0.009, P=0.017). Knowledge of hereditary breast and ovarian cancer was high in AC than NC (P=0.001). MCS was significantly related to whether patient was affected by cancer (P=0.043) and has occupation (P=0.008) or not in multivariable analysis. Conclusion: From this cross sectional study, psychological adverse effect was not related to the carrier status of BRCA mutation. Elevated anxiety in BRCA family members was observed but, independent to affection and the type of genetic mutation. AC showed low mental QoL. Further effort to understand psychological impact and QoL of genetic testing in BRCA family members is required for follow-up in clinical aspects.

Persistence and Distribution of Trunk-Injected Abamectin in Pinus thunbergii and Pinus koraiensis Tissues (수간주입한 아바멕틴의 곰솔과 잣나무 내 분포와 지속성)

  • Lee, Sang-Myeong;Kim, Dong-Soo;Kim, Chul-Su;Cho, Kyu-Seong;Choo, Ho-Yul;Lee, Dong-Woon
    • The Korean Journal of Pesticide Science
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    • v.13 no.3
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    • pp.190-196
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    • 2009
  • The residues of abamectin 1.8% EC, resisted for control of pine wood nematode, Bursaphelenchus xylophilus in pine tree were surveyed in tissue of Pinus thunbergii and P. koraiensis after injection of a liquid formulation. Limits of detection of abamectin in tissue of P. thunbergii were $0.05\;mg\;kg^{-1}$ and mean recoveries at $0.5\;mg\;kg^{-1}$ trunk injection were 90.9% and 93.1% respectively in stem and trunk of P. thunbergii. Abamectin 1.8% EC, trunk injected in 15 m height P. thunbergii were detected in all stem (edible part of carrier insect of pine wood nematode, Monochamus alternatus) from 0.29 to $0.73\;mg\;kg^{-1}$ after 150 days injection. Amount of residue of abamectin 1.8% EC in 12.6 cm mean breast height diameter (DBH) P. thunbergii were variable depending on individual trees in natural forest. Amount of residues in lower and middle part of trunk were reduced with the passage of the injection time. In upper part of trunk were detected $1.84\;mg\;kg^{-1}$ on 30 days after injection however $0.65\;mg\;kg^{-1}$ on 15 days after injection and under detection limit on 100 and 180 days after injection in P. thunbergii. Bottom and middle parts of crown were detected $0.183\;mg\;kg^{-1}$ and $0.173\;mg\;kg^{-1}$ respectively on 180 days after injection in P. thunbergii. Mean residues of abamectin in crown and trunk were $0.80\;mg\;kg^{-1}$ and $0.30\;mg\;kg^{-1}$ on 170 days after trunk injection in 20 cm DBH and 9 m height P. koraiensis. Mean residues of abamectin in crown and trunk were $0.67\;mg\;kg^{-1}$ and $0.36\;mg\;kg^{-1}$ on 170 days after trunk injection in 15 cm DBH and 6 m height P. koraiensis.

Alcoholic Fermentation of Traditional Kanjang by Semi-pilot Scale Bioreactor Systems (Semi-pilot plant 규모 bioreactor를 이용한 재래식 간장의 알코올발효)

  • Kwon, Kwang-Il;Lee, Jong-Gu;Choi, Jong-Dong;Chung, Hyun-Chae;Ryu, Mun-Kyun;Im, Moo-Hyeog;Kim, Ki-Ju;Choi, Yong-Hoon;Kim, Young-Ji;Choi, Cheong;Choi, Kwang-Soo
    • Korean Journal of Food Science and Technology
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    • v.35 no.1
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    • pp.103-110
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    • 2003
  • Stable production of fermented kanjang containing 1.8% (v/v) ethanol was obtained within four days using traditional kanjang containing 4% added glucose in packed-bed bioreactor systems filled with immobilized Zygosaccharomyces rouxii and Candida versatilis on porous alumina ceramic bead carrier at $28{\pm}0.5^{\circ}C$ and aeration rate of 0.05 vvm. Specific rates of alcohol production for Z. rouxii and C. versatilis were 0.0033 and 0.0031/day, respectively, and those of glucose consumption were both -0.0087/day in the batch type of alcoholic fermentation. In semi-continuous alcoholic fermentation at a dilution rate of 0.25/day, specific rates of alcohol production for Z. rouxii and C. versatilis were 0.0045 and 0.0029/day, and those of glucose consumption were -0.01 and -0.008/day, respectively, using identical bioreactor system. Similar specific rates of alcohol production were observed both in the batch or semi-continuous process and in the continuous one at the dilution rate of 0.25/day. Sensory characteristics of all alcoholic-fermented kanjang by Z. rouxii, C. versatilis, and a mixture of both yeasts (2:1, w/w) were shown to be significantly superior to those of home-made kanjang as revealed through organoleptic evaluation tests (p<0.05).

A Clinical Study of HBV Markers in Various Liver Diseases Carriers and Controls (간기능 검사상 이상을 보인 환자에서의 HBV 표식자 발현 양상)

  • Choi, Jung-Kyu;Lee, Yong-Won;Choi, Jin-Myung;Chung, Moon-Kwan;Lee, Heon-Ju;Kim, Chong-Suhl
    • Journal of Yeungnam Medical Science
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    • v.2 no.1
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    • pp.211-220
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    • 1985
  • Serum HBsAg, AntiHBs, HBeAg, AntiHBe and AntiHBc were detected by radioimmunoassay in 39 patients with acute viral hepatitis, 79 patients with chronic hepatitis, 30 patients with liver cirrhosis, 16 patients with primary hepatocellular carcinoma, 14 patients of HBsAg carriers and 129 cases of controls:78 cases of normal level of SGOT, SGPT, and 51 cases of elevated level of SGOT, SGPT. Following results were obtained: 1. HBsAg was detected in 66.7% of acute viral hepatitis, 63.3% of chronic hepatitis, 36.7% of liver cirrhosis, 81.3% of primary hepatocellular carcinoma and 27.1% of controls. 2. AntiHBs was positive in 0% of acute viral hepatitis, 21.5% of chronic hepatitis, 36.7% of liver cirrhosis, 31.3% of primary hepatocellular carcinoma, 0% of carrier and 44.2% of controls. 3. HBeAg was detected in 45.6% of chronic hepatitis, 23.3% of liver cirrhosis and 31.3% of primary hepatocellular carcinoma. 4. Among chronic liver diseases, antiHBe was positive in 56.3% of primary hepatocellular carcinoma, 23.3% of liver cirrhosis and 20.3% of chronic hepatitis. 5. AntiHBc was detected in most of all examines and the significance of presence of AntiHBc does not seem to represent liver disease itself but the evidence of infection of HBV. 6. Among 14 HBV carriers, 6 cases presented with abnormal SGOT, SGPT. 7. All HBV markers were negative in 5.1% of acute viral hepatitis, 5.1% of chronic hepatitis and 14.7% of controls: 17.6% of subjects with abnormal SGOT, SGPT and 12.8% of subjects with normal SGOT, SGPT. 8. Beside of HBV, other causes, such as non A, non B virus, Delta-agent, other viruses or related factors should be excluded among the patients with evidence of HBV infection associated with elevation of SGOT & SGPT.

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Characterization of InAs Quantum Dots in InGaAsP Quantum Well Grown by MOCVD for 1.55 ${\mu}m$

  • Choe, Jang-Hui;Han, Won-Seok;Song, Jeong-Ho;Lee, Dong-Han
    • Proceedings of the Korean Vacuum Society Conference
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    • 2011.08a
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    • pp.134-135
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    • 2011
  • 양자점은 전자와 양공을 3차원으로 속박 시키므로 기존의 bulk나 양자우물보다 양자점을 이용한 레이저 다이오드의 경우 낮은 문턱 전류, 높은 미분이득 및 온도 안전성의 장점이 있을 거라 기대되고 있다. 그러나, 양자점은 낮은 areal coverage 때문에 높은 속박효율을 얻지 못하고 있다. 이러한 양자점의 문제점을 해결하기 위해 양자점을 양자우물 안에 성장시켜 운반자들의 포획을 향상시키는 방법들이 연구되고 있다. 양자우물 안에 양자점을 넣으면 양자우물이 운반자들의 포획을 증가 시키고, 열적 방출도 억제하여 온도 안정성이 향상 되는 것으로 알려져 있다. 광통신 대역의 1.3 ${\mu}m$ 경우, GaAs계를 이용하여 InAs 양자점을 strained InGaAs 박막을 우물층으로 한 dot-in-a-well 구조의 연구는 몇몇 보고된 바 있다. 그러나 InP계를 사용하는 1.55 ${\mu}m$ 대역에서 dot-in-a-well구조의 연구는 아직 미미하다. 본 연구에서는 유기 금속 화학 증착법(metal organic chemical vapor deposition)을 이용하여 InP 기판 위에 InAs 양자점을 자발성장법으로 성장하였으며 dot-in-a-well 구조에서 우물층으로 1.35 ${\mu}m$ 파장의 $In_{0.69}Ga_{0.31}As_{0.67}P_{0.33}$ (1.35Q)를, 장벽층으로는 1.1 ${\mu}m$ 파장의 $In_{0.85}Ga_{0.15}As_{0.32}P_{0.68}$(1.1Q)를 사용하였다. 양자우물층과 장벽층은 모두 InP 기판과 격자가 일치하는 조건으로 성장하였다. III족 원료로는 trimethylindium (TMI)와 trimethylgalium (TMGa)을 사용하였으며 V족 원료 가스로는 $PH_3$ 100%, $AsH_3$ 100%를, carrier gas로는 $H_2$를 사용하였다. InP buffer층의 성장 온도는 640$^{\circ}C$이며 양자점 성장 온도는 520$^{\circ}C$이다. 양자점 형성은 원자력간 현미경(Atomic force microscopy)를 이용하여 확인하였으며, 박막의 결정성은 쌍결정 회절분석(Double crystal x-ray deffractometry)를 이용하여 확인하였다. 확인된 성장 조건을 이용하여 양자점 시료를 성장하였으며 광여기분광법(Photoluminescence)을 이용하여 광특성을 분석하였다. Fig. 1은 dot in a barrier 와 dot-in-a-well 시료의 성장구조이다. Fig. 1(a)는 일반적인 dot-in-a-barrier 구조로 InP buffer층을 성장하고 1.1Q를 100 nm 성장한 후 양자점을 성장하였다. 그 후 1.1Q 100 nm와 InP 100 nm로 capping하였다. Fig. 1(b)는 dot-in-a-well 구조로 InP buffer층을 성장하고 1.1Q를 100 nm 성장 후 1.35Q 우물층을 4 nm 성장하였다. 그 위에 InAs 양자점을 성장하였다. 그 후에 1.35Q 우물층을 4 nm 성장하고 1.1Q 100 nm와 InP 100 nm로 capping하였다. Fig. 2는 dot-in-a-barrier 시료와 dot-in-a-well 시료의 상온 PL data이다. Dot-in-a-barrier 시료의 PL 파장은 1544 nm이며 반치폭은 79.70 meV이다. Dot-in-a-well 시료의 파장은 1546 nm이며 반치폭은 70.80 meV이다. 두 시료의 PL 파장 변화는 없으며, 반치폭은 dot-in-a-well 시료가 8.9 meV 감소하였다. Dot-in-a-well 시료의 PL peak 강도는 57% 증가하였으며 적분강도(integration intensity)는 45%가 증가하였다. PL 데이터에서 높은 에너지의 반치폭 변화는 없으며 낮은 에너지의 반치폭은 8 meV 감소하였다. 적분강도 증가에서 dot-in-a-well 구조가 dot-in-a-barrier 구조보다 전자-양공의 재결합이 증가한다는 것을 알 수 있으며, 반치폭 변화로부터 특히 높은 에너지를 갖는 작은 양자점에서의 재결합이 증가 된 것을 알 수 있다. 이는 양자우물이 장벽보다 전자-양공의 구속력을 증가시키기 때문에 양자점에 전자와 양공의 공급을 증가시키기 때문이다. 따라서 낮은 에너지를 가지는 양자점을 모두 채우고 높은 에너지를 가지는 양자점까지 채우게 되므로, 높은 에너지를 가지는 양자점에서의 전자-양공 재결합이 증가되었기 때문이다. 뿐만 아니라 파장 변화 없이 PL peak 강도와 적분강도가 증가하고 낮은 에너지 쪽의 반치폭이 감소한 것으로부터 에너지가 낮은 양자점보다는 에너지가 높은 양자점에서의 전자-양공 재결합율이 급증하였음을 알 수 있다. 우리는 이와 같은 연구에서 InP계를 이용해 1.55 ${\mu}m$에서도 dot in a well구조를 성장 하여 더 좋은 특성을 낼 수 있으며 앞으로 많은 연구가 필요할 것이라 생각한다.

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Effect of Solid Matrix Priming on Peppers(Capsicum annuum L.) Germinability III. Germination Temperature and Duration of Dehydration (Solid Matrix Priming 처리가 고추종자의 발아에 미치는 영향 III. 발아온도와 건조기간)

  • Kim, Do-Hahn
    • Journal of agriculture & life science
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    • v.43 no.5
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    • pp.17-25
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    • 2009
  • The purpose of this study was to find out the optimum germination temperature and dehydration period at SMP processing, and applies 3 kind of seed treatment and compares yield with stand establishment of seeds of 12 pepper cultivars. It was showed that all 12 cultivars of nontreated seed does not entirely germinated in $15^{\circ}C$. It was that SMP seed germination rate 77(Yeomyeong)~100% (Deawang) high, and seeds 12 cultivars was tendency high by more than 93% at all temperatures excepting Bugang($35^{\circ}C$, 85%) and Yeomyeong($15^{\circ}C$, 77%). Dehydration condition of result were Gumsure, Dongbang Jonggagip, Hyangchon, Yeomyeong, Kwangbok, Wang by which 3 hours in $45^{\circ}C$ were proper, which 6 hours in $35^{\circ}C$ were proper Manitta, Joyang, and judged that 12 hours in $25^{\circ}C$ were proper in Bugang, Dabotap, Deawang. It was reported that water percentage of moisture content change of pepper seed by dehydration was difference a little in species, but was judged by 3-6 hours in $45^{\circ}C$. There was compared to SMP, Osmopriming, pH control by stand establishment were shown pH control of Hyangchon, Dabotap species was nontreated, osmopriming treatment. Also, Kwangbok species was tendency that stand establishment was low, and Deawang was good than other species. Yield of nontreated of yield day was tendency, and miss planted rate also appeared high for 90 day. There was difference in species, and processing of pH control and osmopriming was not shown stand establishment that is stabilized in all species. SMP processing condition could bring security of stable stand establishment in all species, and was considered that research that was under various environment condition should be proceeded conclusively.