• Title/Summary/Keyword: Substitutions

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Effect of RFLP Marker of the Mitochondrial DNA D-Loop Region on Milk Production in Korean Cattle (한우 Mitochondrial DNA D-Loop 영역의 RFLP Marker가 산유량에 미치는 영향)

  • Chung Eui-Ryong;Chung Ku-Young
    • Food Science of Animal Resources
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    • v.25 no.2
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    • pp.218-225
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    • 2005
  • This study was performed to determine sequence variation and RFLP of the mt DNA D-loop region using Southern blot hybridization analysis and to develop mt DNA marker affecting milk production traits in Hanwoo cows. The PCR was used to amplify an 1142 bp fragment within the D-loop region of mt DNA using specific primers. Mt DNA were digested with seven restriction enzymes and hybridized using DIG-labeled D-loop probe. The mt DNA RFLP polymorphisms were observed in the four enzymes, BamHI, RsaI, XbaI and HpaII. Nucleotide substitutions were detected at positions 441 (G/C), 469 (T/C), 503 (C/T), 569 (G/A), 614 (C/A) and 644 (C/T) of the mt DNA D-loop region between two selected lines. Significant relationship between the XbaI RFLP type and breeding value was found(p<0.05). Cows with A type had higher estimated breeding values than those with B type (P<0.05) between high and low milk production lines. Therefore, the RFLP marker of mt DNA could be used as a selection assisted tool for individuals with high milk producing ability in Hanwoo.

Clinical Manifestations and Treatment in Korean Patients with X-Linked Agammaglobulinemia (성염색체 열성 범저감마글로불린혈증 환자의 임상 소견 및 치료)

  • Cho, Hannah;Kim, Joong Gon
    • Pediatric Infection and Vaccine
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    • v.24 no.3
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    • pp.152-159
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    • 2017
  • Purpose: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the Bruton's tyrosine kinase (Btk) gene. The aim of this study was to investigate the clinical manifestations, molecular features, and treatment status of XLA in Korean patients at Seoul National University Children's Hospital. Methods: Fourteen Korean boys with XLA showing serum agammaglobulinemia, non-detectable to less than 2% of peripheral B-cells, and mutation of the Btk gene were enrolled. We observed the clinical features, laboratory findings, status of treatment, and complications in these XLA patients. Results: All XLA patients had a history of recurrent bacterial infections before diagnosis, and 20% of them had a neutropenia. Of the XLA patients 35.7% had a family history of XLA and 75% of their mothers were carriers. Btk gene analysis showed variable gene mutations in Xq22 including 9 amino acid substitutions, 3 frameshifts, 1 premature stop codon, and 1 splice defect. After intravenous immunoglobulin replacement therapy, infection episodes decreased, but complications such as bronchiectasis and chronic sinusitis remained. Conclusions: In patients less than 4 years of age with recurrent infection, analysis of serum gamma globulin levels and the Btk gene are recommended for the early diagnosis of XLA and for the appropriate prevention of recurrent infection.

Occurrence and Geochemistry of Argyrodite, a Germanium-Bearing Mineral(Ag8GeS6), from the Weolyu Ag-Au Hydrothermal Vein Deposits (월류(月留) 은(銀)-금(金) 열수광상(熱水鑛床)에서 산출된 함(含) Ge 광물(鑛物)인 Argyrodite의 산상(産狀)과 지구화학(地球化學))

  • So, Chil-Sup;Yun, Seong-Taek;Choi, Seon-Gyu
    • Economic and Environmental Geology
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    • v.26 no.2
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    • pp.117-127
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    • 1993
  • Ag-Au vein ores from the Weolyu mine, Youngdong district, contain significant germanium (up to 145g/t, average 34.9g/t), in the form of argyrodite ($Ag_8GeS_6$). Mineral chemistries of argyrodite and its associated minerals were determined by electron probe microanalysis. Twenty eight elements in thirteen ore samples were analyzed using an ICP mass spectrometer. Argyrodite occurs in the paragenetically later mineral assemblage consisting of carbonates+quartz+native silver+argentite+Ag-sulfosalts, indicating that the germanium mineralization represents the culmination of a complex mineral sequence which includes early gold and late silver deposition. The mean formula of the argyrodite is $Ag_{7.90}\;(Ge_{0.76}Sn_{0.04})S_6$, with minor amounts of Cu, Fe, Sb, As, Sn, and Zn. The Weolyu argyrodite shows systematic substitutions of Ag by Cu, and of Ge by Sb. Chemical analyses of vein ores indicate that metals were precipitated in the order of $Fe{\rightarrow}Pb$, $Zn{\rightarrow}Cu{\rightarrow}Ag$, Sb, As, Ge. Germanium has a strong geochemical affmity with As and Sb, and Cu, Pb, Zn, Mo, and Sr show weak positive correlations with Ge. Germanium deposition at Weolyu was mainly a result of cooling of hydrothermal fluids (down to $175^{\circ}C{\sim}210^{\circ}C$, due to increasing involvement of cooler meteoric waters in the epithermal system.

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Diagnostic Mutational Analysis of MECP2 in Korean patients with Rett syndrome

  • Kim, In-Joo;Kim, Yeon-Joo;Son, Byeong-Hee;Nam, Sang-Ook;Kang, Hoon-Chul;Kim, Heung-Dong;Choi, Ook-Hwan;Yoo, Mi-Ae;Kim, Cheol-Min
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.5 no.1
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    • pp.48-56
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    • 2005
  • Purpose: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000~15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl-CpG-binding protein). In this study, we carried out diagnostic mutational analysis of MECP2 gene in RTT patients. Methods: We analyzed four exons and putative promoter of MECP2 gene from the peripheral blood of 43 Korean patients with RTT by PCR-RFLP and direct sequencing. Results: Mutations were detected in MECP2 gene about 60.5% of patients. The mutations consisted of 14 different types including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, P385fsX409) were newly identified and these were determined as disease-causing mutations by PCR-RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified with high frequency. An intronic SNP (IVS3+23C>G) was newly identified in only three of the patients. It may be a disease-related and Korea-specific SNP with RTT. The L100V and A201V have been reported to be unclassified variant and SNP. However, these mutations were not found in more than 100 normal Korean control samples. These base substitutions seem to be the disease-causing mutations in Korean RTT contrary to previous studies. Conclusion: Disease-causing mutations and polymorphisms would be very important for diagnosing of RTT in Korean. The experimental procedure used in this study might be considered for molecular biologic diagnosis used in clinical field.

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Pharmacological Characterization of Synthetic Tetrahydroisoquinoline Alkaloids, YS 51 and YS 55, on the Cardiovascular System

  • Chang, Ki-Churl;Kang, Young-Jin;Lee, Young-Soo;Chong, Won-Seog;Choi-Yun, Hey-Sook;Lee, Duck-Hyong;Ryu, Jae-Chun
    • The Korean Journal of Physiology and Pharmacology
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    • v.2 no.4
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    • pp.461-469
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    • 1998
  • Tetrahydroisoquinoline (THI) alkaloids can be considered as cyclized derivatives of simple phenylethy-lamines, and many of them, especially with 6,7-disubstitution, demonstrate relatively high affinity for catecholamines. Two -OH groups at 6 and 7 positions are supposed to be essential to exert ?${\beta}-receptor$ activities. However, it is not clear whether -OH at 6,7 substitution of THIs also shows ?${\alpha}-adrenoceptor$ activities. In the present study, we investigated whether -OH or $-OCH_3$ substitutions of 6,7 position of THIs differently affect the ?1-adrenoceptor affinity. We synthesized two 1-naphthylmethyl THI alkaloids, $1-{\beta}-naphthylmethyl-6,7-dihydroxy-1,2,3,4-tetrahydroisoquinoline$ HBr (YS 51) and $1-{\beta}-naphthylmethyl-6, 7-dimethoxy-1,2,3,4-tetrahydroisoquinoline$ HCl (YS 55), and their pharmacological actions on ?${\alpha}_1-adrenoceptor$ were compared. YS 51 and YS 55, concentration-dependently relaxed endothelium-denuded rat thoracic aorta precontracted with phenylephrine (PE, 0.1 ${\mu}M$) in which $pEC_{50}$ were $5.89{\pm}0.21$ and $5.93{\pm}0.19$, respectively. Propranolol (30 nM) did not affect the relaxation-response curves to YS 51 and YS 55. Concentration-response curves to PE were shifted to right by the pretreatment with YS 51 or YS 55. The $pA_2$ values of YS 51 and YS 55 showed $6.05{\pm}0.24$ and $5.88{\pm}0.16$, respectively. Both probes relaxed KCl (65.4 mM)-contracted aorta and inhibited $CaCl_2-induced$ contraction of PE-stimulated endothelium- denuded rat thoracic aorta in $Ca^{2+}-free$ solutions. In isolated guinea pig papillary muscle, 1 and 10 ${\mu}M$ YS 51 increased contractile force about 4- and 8- fold over the control, respectively, along with the concentration-dependent increment of cytosolic $Ca^{2+}$ ions. While, 10 ${\mu}M$ YS 55 reduced the contractile force about 50 % over the control and lowered the cytosolic $Ca^{2+}$ level, in rat brain homogenates, YS 51 and YS 55 displaced $[^3H]prazosin$ binding competitively with Ki 0.15 and 0.12 ${\mu}M$, respectively. However, both probes were ineffective on $[^3H]nitrendipine$ binding. Therefore, it is concluded that two synthetic naphthylmethyl-THI alkaloids have considerable affinity to ?1-adrenenoceptors in rat aorta and brain.

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Quality Characteristics of Rye Mixed Bread Prepared with Substitutions of Naturally Fermented Raisin Extract and Sourdough (건포도 천연 발효액과 Sourdough를 이용한 호밀 혼합빵의 품질 특성)

  • Kim, Mun-Yong;Chun, Soon-Sil
    • Journal of the East Asian Society of Dietary Life
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    • v.18 no.1
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    • pp.87-94
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    • 2008
  • In this study, a nanatural fermentation starter formulation was developed for manufacturing bread products by substituting baker's yeast with naturally fermented raisin extract and sourdough. Four experimental groups containing 2.5, 5.0, 7.5, 10% naturally fermented raisin extract per 2,000 g of flour were compared based on quality characteristics, including the fermentation power on dough expansion, specific volume, baking loss, water activity, color, textural characteristics, and internal surface appearance. The activities of the naturally fermented raisin extract were examined in terms of pH changes, total titratable acidity, brix, and viable yeast counts. The raisin extract, which was cultured for 7 days at 30$^{\circ}C$, smelled of alcohol and produced $CO_2$. Yeast were also found in the extract after separation. As the incubation time of the raisin extract and sourdough increased, pH decreased, while total titratable acidity increased. The brix of the raisin extract increased until the $2^{nd}$ day of fermentation, and viable yeast counts increased until the $5^{th}$ day however, these gradually decreased by the $7^{th}$ day. The fermenting power on dough expansion increased in the bread with increasing incubation time. The bread samples containing 7.5% and 10% raisin extract had significantly higher specific volumes than the other samples. Baking loss was minimal with the 2.5% extract substitution. In analyzing the crumb, water activity, redness, and yellowness were highest in the 10.0% raisin extract bread samples, and lightness was maximal in the 5.0% group. In terms of textural characteristics, hardness was lowest with the 2.5% extract substitution. Gumminess, springiness, and chewiness were not significantly different among the bread samples. Cohesiveness was highest at the 7.5% extract substitution level, and resilience was lowest at the 10% level. In conclusion, based on the results, a natural fermentation starter formulated with 2.5% naturally fermented raisin extract (1 part raisins and 1.5 parts water) and 70% sourdough (1 part rye flour and 1 part water) has high potential as a baker's yeast substitute for making naturally fermented bread.

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Microwave Assisted Synthesis of New N1-Substituted 5-Cyano-pyrimidine Derivatives as Potent Antimicrobial Agents (마이크로파를 이용한 강한 항균제인 새로운 N1-치환된 5-Cyano-pyrimidine 유도체의 합성)

  • Pore, Yogesh;Patil, Gaurav;Tamboli, Ijaj;Chavan, Vaibhav;Kamble, Kirti;Nikam, Shital;Kuchekar, Bhanudas
    • Journal of the Korean Chemical Society
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    • v.52 no.1
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    • pp.30-35
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    • 2008
  • purpose of the study was to synthesize new series of 5-cyano substituted pyrimidine analogues with different substitutions at N1 and 6 positions and to evaluate them for antibacterial and antifungal activities. The desired compounds were synthesized by tertiary condensation of ethylcyanoacetate, substituted thioureas and suitable aldehyde in presence of potassium carbonate using MORE technique. The antibacterial and antifungal activities were evaluated by cup plate method in the concentration of 25 mg. The zone of inhibition was measured in mm. All the compounds have shown significant antibacterial and antifungal activities. The maximum activity was shown by P1 and P5 against S.aureus and E.coli respectively, while P6 has shown significant activity against all types of microorganisms. The compound P8 has been found to be significantly effective against C. albicans. Norfloxacin and griseofulvin were used as standards to compare the activites of synthesized compounds. It is concluded that analogues containing p-hydroxy, p-methoxy substituted phenyl moiety at 6 position have been found to be more potent against gram-positive microorganisms, while analogues lacking these substituents on phenyl moiety possessed gram-negative activity. The compounds having p-dimethylamino substituent on phenyl moiety at 6 positions have shown moderate activity. Further, only fluorine containing analogue at N1 position was found to possess appreciable antifungal activity. This suggests that electron donating substituent on aryl moiety as well as electron withdrawing substituent at N1 plays important role in determining potency of the compounds.

Generation of a High-Growth Influenza Vaccine Strain in MDCK Cells for Vaccine Preparedness

  • Kim, Eun-Ha;Kwon, Hyeok-Il;Park, Su-Jin;Kim, Young-Il;Si, Young-Jae;Lee, In-Won;Kim, Se mi;Kim, Soo-In;Ahn, Dong-Ho;Choi, Young-Ki
    • Journal of Microbiology and Biotechnology
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    • v.28 no.6
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    • pp.997-1006
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    • 2018
  • As shown during the 2009 pandemic H1N1 (A(H1N1)pdm09) outbreak, egg-based influenza vaccine production technology is insufficient to meet global demands during an influenza pandemic. Therefore, there is a need to adapt cell culture-derived vaccine technology using suspended cell lines for more rapid and larger-scale vaccine production. In this study, we attempted to generate a high-growth influenza vaccine strain in MDCK cells using an A/Puerto/8/1934 (H1N1) vaccine seed strain. Following 48 serial passages with four rounds of virus plaque purification in MDCK cells, we were able to select several MDCK-adapted plaques that could grow over $10^8PFU/ml$. Genetic characterization revealed that these viruses mainly had amino acid substitutions in internal genes and exhibited higher polymerase activities. By using a series of Rg viruses, we demonstrated the essential residues of each gene and identified a set of high-growth strains in MDCK cells ($PB1_{D153N}$, $M1_{A137T}$, and $NS1_{N176S}$). In addition, we confirmed that in the context of the high-growth A/PR/8/34 backbone, A/California/7/2009 (H1N1), A/Perth/16/2009 (H3N2), and A/environment/Korea/deltaW150/2006 (H5N1) also showed significantly enhanced growth properties (more than $10^7PFU/ml$) in both attached- and suspended-MDCK cells compared with each representative virus and the original PR8 vaccine strain. Taken together, this study demonstrates the feasibility of a cell culture-derived approach to produce seed viruses for influenza vaccines that are cheap and can be grown promptly and vigorously as a substitute for egg-based vaccines. Thus, our results suggest that MDCK cell-based vaccine production is a feasible option for producing large-scale vaccines in case of pandemic outbreaks.

The $Fc{\gamma}$ receptor III genotype as a risk factor for aggressive periodontitis in Korean patients (한국인 급진성 치주염 환자의 위험요소로서 $Fc{\gamma}$ III 수용기의 유전형)

  • Kim, Myung-Hyun;Shin, Seung-Yun;Kim, Tae-Il;Seol, Yang-Jo;Lee, Yong-Moo;Rhyu, In-Chul;Chung, Chong-Pyoung;Han, Soo-Boo;Ku, Young
    • Journal of Periodontal and Implant Science
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    • v.36 no.1
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    • pp.113-123
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    • 2006
  • 연구배경 IgG에 대한 $Fc{\gamma}$ 수용기는 치주병인균에 대한 숙주 반응에 있어서 중요한 역할을 하는데, 이 중 $Fc{\gamma}RIIIa$는 NK 세포, 대식세포, 단핵구, ${\gamma}{\delta}T$세포에서 발현되며, EC2 도메인에서 158 아미노산 부위의 valine (V)-phenylalanine (F)의 유전자다형성을 보인다. $Fc{\gamma}RIIIb$는 특이적으로 중성구에 발현되는데, extracellular (ECl) Ig-like 도메인 내 4개의 아미노산 치환(substitutions)에 의한 NA1-NA2 유전자다형성을 보인다. 이 연구의 목적은 한국인에서 급진성 치주염 환자와 $Fc{\gamma}III$ 수용기의 유전자다형성과의 관련성을 알아보는 것이다. 연구방법 및 재료 치주적으로 건강한 90명 (대조군, 남자 64명, 여자 26명)과 서울대학교 치과병원 지주과에 내원하여 급진성 치주염으로 진단된 환자 43명 (aggressive periodontitis patients: AgP, 남자 30명, 여자 13명)을 대상으로 하였다. 모든 실험 대상자는 임상 실험에 대해 동의 하였고, 초진 시 전자 탐침(Florida Probe(R) Co. Gainesville, FL)을 이용하여 탐침 시 치주낭 깊이 (PPD), 임상부착수준 (CAL), 치태지수(PI), 탐침 후 출혈지수 (BOP)를 측정하였다. 또한 이들의 정맥혈에서 추출한 DNA를 PCR법, 전기영동법 등을 이용하여 $Fc{\gamma}RIIIa$, $Fc{\gamma}RIIIb$의 대립 유전자의 존재여부를 확인하였다. 이를 바탕으로 $Fc{\gamma}RIII$ 복합 유전형을 확인하여 각 군 간을 비교하였다. 연구 결과 1. $Fc{\gamma}RIIIa$에 대한 유전자다형성 연구 결과 대조군과 급진성 치주염 환자 군(AgP)사이에서는 대립 유전자 분포가 서로 유의성 있는 차이를 나타내었고 (P<0.05), $Fc{\gamma}RIIIb$에서는 유의성 있는 차이를 발견할 수 없었다. (P>0.05) 2. $Fc{\gamma}RIIIa$ 158F 대립형질이 급진성 치주염 환자에서 유의성 있게 많이 발견되어졌다. (P<0.05) 결론 이 연구를 통하여 $Fc{\gamma}RIIIa$ 유전자의 분석이 한국인의 급진성 치주염에 대한 감수성의 위험요소의 표지자로 활용할 수 있을 것으로 사료되며, 향 후 더 많은 환자를 대상으로 히는 추가 연구가 필요하다고 생각된다.

Development of Sulgidduk with Queso Blanco Cheese (카이소 블랑코 치즈를 첨가한 설기떡의 개발)

  • Lee, Young-Ju;Yang, Hyun-Jung;Chun, Soon-Sil
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.40 no.4
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    • pp.575-580
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    • 2011
  • Sulgidduk samples were prepared with substitutions of 5, 10, 15, and 20% Queso blanco cheese powder (QBCP) to rice flour basic formulation, along with a control, were then compared in terms of quality characteristics including moisture content, external surface appearance, color, textural characteristics, and sensory analysis, in order to determine the optimal ratio of formulation. Moisture contents were not significantly different among the Sulgidduk samples. For external surface appearance, as QBCP content increased, darkness and yellowness increased. With regard to color, lightness decreased with increasing QBCP content, while redness and yellowness increased. In terms of textural characteristics, hardness, gumminess, and springiness increased as QBCP content increased. The control group had significantly higher fracturability than the QBCP samples. Adhesiveness was highest at the 5% QBCP substitution level, while lowest at the 20% level. Cohesiveness was minimal the 10% QBCP sample, not significantly different among the QBCP samples. Chewiness and resilience were not significantly different among the QBCP samples. In sensory evaluation, color, flavor, and overall acceptability decreased, while softness not significantly different among the QBCP samples. Cheese flavor, saltness, milk fat taste, moistness and off-flavor increased with increasing QBCP content.