• Title/Summary/Keyword: Carrier detection

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Characterization of Bruton's Tyrosine Kinase Genetic Mutations in One Korean X-linked Agammaglobulinemia Family (반성 열성 범저감마글로불린혈증 1가계 3환자의 Bruton's Tyrosine Kinase 유전자 변이 및 임상 양상)

  • Jo, Eun-Kyeong;Song, Chang-Hwa;Park, Jeong-Kyu;Baek, Young-Jong;Rhu, Hye-Young;Lee, Jae-Ho;Hwang, Tai-Ju;Kook, Hoon
    • Clinical and Experimental Pediatrics
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    • v.45 no.2
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    • pp.183-191
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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 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.

Quantitative Expression Analysis of Functional Genes in Four Dog Breeds (개의 네 품종에서 기능 유전자들에 대한 정량적 발현 분석)

  • Gim, Jeong-An;Kim, Sang-Hoon;Lee, Hee-Eun;Jeong, Hoim;Nam, Gyu-Hwi;Kim, Min Kyu;Huh, Jae-Won;Choi, Bong-Hwan;Kim, Heui-Soo
    • Journal of Life Science
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    • v.25 no.8
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    • pp.861-869
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    • 2015
  • One of the domesticated species; the dog has been selectively bred for various aims by human. The dog has many breeds, which are artificially selected for specific behaviors and morphologies. Dogs contribute their life to human as working dogs for guide, rescue, detection or etc. Working dogs requires good personality, such as gentleness, robustness and patience for performing their special duty. Many studies have concentrated on finding genetic marker for selecting the high-quality working dog. In this study, we confirmed quantitative expression patterns of eight genes (ABAT; 4-Aminobutyrate Aminotransferase, PLCB1; Phospholipase C, Beta 1, SLC10A4; Solute Carrier Family 10, Member 4, WNT1; Wingless-Type MMTV Integration Site Family, Member 1, BARX2; BarH-Like Homeobox 2, NEUROD6; Neuronal Differentiation 6, SEPT9; Septin 9 and TBR1; T-Box, Brain, 1) among brains tissues from four dog breeds (Beagle, Sapsaree, Shepherd and Jindo), because these genes were expressed and have functions in brain mostly. Specially, BARX2, SEPT9, SLC10A4, TBR1 and WNT1 genes were highly expressed in Beagle and Jindo, and Sapsaree and German Shepherd were vice versa. The biological significance of total genes was estimated by database for annotation, visualization and integrated discovery (DAVID) to determine a different gene ontology (GO) class. In these analyses, we suppose to these eight genes could provide influential information for brain development, and intelligence of organisms. Taken together, these results could provide clues to discover biomarker related to functional traits in brain, and beneficial for selecting superior working dogs.

PRC Maritime Operational Capability and the Task for the ROK Military (중국군의 해양작전능력과 한국군의 과제)

  • Kim, Min-Seok
    • Strategy21
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    • s.33
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    • pp.65-112
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    • 2014
  • Recent trends show that the PRC has stepped aside its "army-centered approach" and placed greater emphasis on its Navy and Air Force for a wider range of operations, thereby reducing its ground force and harnessing its economic power and military technology into naval development. A quantitative growth of the PLA Navy itself is no surprise as this is not a recent phenomenon. Now is the time to pay closer attention to the level of PRC naval force's performance and the extent of its warfighting capacity in the maritime domain. It is also worth asking what China can do with its widening naval power foundation. In short, it is time to delve into several possible scenarios I which the PRC poses a real threat. With this in mind, in Section Two the paper seeks to observe the construction progress of PRC's naval power and its future prospects up to the year 2020, and categorize time frame according to its major force improvement trends. By analyzing qualitative improvements made over time, such as the scale of investment and the number of ships compared to increase in displacement (tonnage), this paper attempts to identify salient features in the construction of naval power. Chapter Three sets out performance evaluation on each type of PRC naval ships as well as capabilities of the Navy, Air Force, the Second Artillery (i.e., strategic missile forces) and satellites that could support maritime warfare. Finall, the concluding chapter estimates the PRC's maritime warfighting capability as anticipated in respective conflict scenarios, and considers its impact on the Korean Peninsula and proposes the directions ROK should steer in response. First of all, since the 1980s the PRC navy has undergone transitions as the focus of its military strategic outlook shifted from ground warfare to maritime warfare, and within 30 years of its effort to construct naval power while greatly reducing the size of its ground forces, the PRC has succeeded in building its naval power next to the U.S.'s in the world in terms of number, with acquisition of an aircraft carrier, Chinese-version of the Aegis, submarines and so on. The PRC also enjoys great potentials to qualitatively develop its forces such as indigenous aircraft carriers, next-generation strategic submarines, next-generation destroyers and so forth, which is possible because the PRC has accumulated its independent production capabilities in the process of its 30-year-long efforts. Secondly, one could argue that ROK still has its chances of coping with the PRC in naval power since, despite its continuous efforts, many estimate that the PRC naval force is roughly ten or more years behind that of superpowers such as the U.S., on areas including radar detection capability, EW capability, C4I and data-link systems, doctrines on force employment as well as tactics, and such gap cannot be easily overcome. The most probable scenarios involving the PRC in sea areas surrounding the Korean Peninsula are: first, upon the outbreak of war in the peninsula, the PRC may pursue military intervention through sea, thereby undermining efforts of the ROK-U.S. combined operations; second, ROK-PRC or PRC-Japan conflicts over maritime jurisdiction or ownership over the Senkaku/Diaoyu islands could inflict damage to ROK territorial sovereignty or economic gains. The PRC would likely attempt to resolve the conflict employing blitzkrieg tactics before U.S. forces arrive on the scene, while at the same time delaying and denying access of the incoming U.S. forces. If this proves unattainable, the PRC could take a course of action adopting "long-term attrition warfare," thus weakening its enemy's sustainability. All in all, thiss paper makes three proposals on how the ROK should respond. First, modern warfare as well as the emergent future warfare demonstrates that the center stage of battle is no longer the domestic territory, but rather further away into the sea and space. In this respect, the ROKN should take advantage of the distinct feature of battle space on the peninsula, which is surrounded by the seas, and obtain capabilities to intercept more than 50 percent of the enemy's ballistic missiles, including those of North Korea. In tandem with this capacity, employment of a large scale of UAV/F Carrier for Kill Chain operations should enhance effectiveness. This is because conditions are more favorable to defend from sea, on matters concerning accuracy rates against enemy targets, minimized threat of friendly damage, and cost effectiveness. Second, to maintain readiness for a North Korean crisis where timely deployment of US forces is not possible, the ROKN ought to obtain capabilities to hold the enemy attack at bay while deterring PRC naval intervention. It is also argued that ROKN should strengthen its power so as to protect national interests in the seas surrounding the peninsula without support from the USN, should ROK-PRC or ROK-Japan conflict arise concerning maritime jurisprudence. Third, the ROK should fortify infrastructures for independent construction of naval power and expand its R&D efforts, and for this purpose, the ROK should make the most of the advantages stemming from the ROK-U.S. alliance inducing active support from the United States. The rationale behind this argument is that while it is strategically effective to rely on alliance or jump on the bandwagon, the ultimate goal is always to acquire an independent response capability as much as possible.

A whole genome sequence association study of muscle fiber traits in a White Duroc×Erhualian F2 resource population

  • Guo, Tianfu;Gao, Jun;Yang, Bin;Yan, Guorong;Xiao, Shijun;Zhang, Zhiyan;Huang, Lusheng
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.5
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    • pp.704-711
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    • 2020
  • Objective: Muscle fiber types, numbers and area are crucial aspects associated with meat production and quality. However, there are few studies of pig muscle fibre traits in terms of the detection power, false discovery rate and confidence interval precision of whole-genome quantitative trait loci (QTL). We had previously performed genome scanning for muscle fibre traits using 183 microsatellites and detected 8 significant QTLs in a White Duroc×Erhualian F2 population. The confidence intervals of these QTLs ranged between 11 and 127 centimorgan (cM), which contained hundreds of genes and hampered the identification of QTLs. A whole-genome sequence imputation of the population was used for fine mapping in this study. Methods: A whole-genome sequences association study was performed in the F2 population. Genotyping was performed for 1,020 individuals (19 F0, 68 F1, and 933 F2). The whole-genome variants were imputed and 21,624,800 single nucleotide polymorphisms (SNPs) were identified and examined for associations to 11 longissimus dorsi muscle fiber traits. Results: A total of 3,201 significant SNPs comprising 7 novel QTLs showing associations with the relative area of fiber type I (I_RA), the fiber number per square centimeter (FN) and the total fiber number (TFN). Moreover, one QTL on pig chromosome 14 was found to affect both FN and TFN. Furthermore, four plausible candidate genes associated with FN (kinase non-catalytic C-lobe domain containing [KNDC1]), TFN (KNDC1), and I_RA (solute carrier family 36 member 4, contactin associated protein like 5, and glutamate metabotropic receptor 8) were identified. Conclusion: An efficient and powerful imputation-based association approach was utilized to identify genes potentially associated with muscle fiber traits. These identified genes and SNPs could be explored to improve meat production and quality via marker-assisted selection in pigs.

Effect of PEG chain additive on 6,8-dichloro-2-phenylimidazo[1,2-a] pyridineacetamide (CB185) as a TSPO-binding ligand

  • Lee, Won Chang;Lee, Sang Hee;Denora, Nunzio;Laquintana, Valentino;Lee, Byung Chul;Kim, Sang Eun
    • Journal of Radiopharmaceuticals and Molecular Probes
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    • v.5 no.2
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    • pp.89-100
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    • 2019
  • In our previous studies, we developed a 18F-labeled TSPO-binding ligand, named [18F]CB251, which has been proved to be a promising TSPO-binding PET radiotracer for the detection and monitoring of TSPO expression in pathological diseases. (Ki = 0.27 nM for TSPO, 1.96% ID/g of tumor uptake at 1h post-injection) Based on these results, we utilized 6,8-dichloro-2-phenylimidazo[1,2-a]pyridineacetamide analogs, CB185 (1) as a targeting moiety for the selective delivery of probes and anticancer molecules to TSPO-overexpressed tissues. In this study, we designed CB185 derivatives contains different PEG chains (n = 1, 3 and 5) and fluorescence dye (Cy5) to identify the necessary space between a TSPO-binding ligand and an anticancer agent. Three CB185 derivatives (11a-c) which contains Cy5 and PEG chain, were synthesized and the effect of PEG additive on their TSPO-binding affinities were evaluated using in vitro assays. The binding affinity for compounds 11a-c was lower than that of PK11195 (Ki = 3.2 nM), but still characterized by nanomolar binding affinity for TSPO (Ki = 46.5 nM for 11a, 51.0 nM for 11b, and 388.5 nM for 11c). These results showed that the conjugates are characterized by a moderate binding affinity toward TSPO except for compound 11c, which PEG chain consist of five PEG monomers. Our finding might add useful information to decide the appropriate PET chain length for developing new TSPO-targeting drug carriers.

A Baseline Study on the Choice of Optimal Screening Test Items among Workers with Abnormal Liver Function Tests on Workers' Periodic Health Examination (근로자 건강진단시 간기능 이상자의 정밀검사항목 개선을 위한 조사연구)

  • Cheong, Hae-Kwan;Lim, Hyun-Sul;Kim, Gyu-Hoi
    • Journal of Preventive Medicine and Public Health
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    • v.27 no.4 s.48
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    • pp.747-761
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    • 1994
  • Workers' periodic health examination is the main tools used to manage the health problems of most workers in Korea. The most common health problem found in workers' periodic health examination is liver disorder. Liver disorder is also one of the most common health problems in general population and one of the leading causes of mortality in adult population. Regulation proposed by government (No. 207, Ministry of Labor, 1992) defines the criteria for selection of workers with the liver dysfunction for further evaluative examination and the examination items used for diagnosis of the workers with liver dysfunction. This study was designed to evaluate the proficiency of each examination items presently defined in Regulation and propose the optimal examination items for detection of the liver disorders found by workers' periodic health examination. Study subjects are 186 workers with abnormal liver function tests in screening examination of workers' periodic health examination. Questionnaire survey including past history of liver disorder, drinking history, height and weight was done. Physical examination by physician, routine test items defined by Regulation (SGOT, SGPT, $\gamma$-GTP, protein, albumin, total and direct bilirubin, alkaline phosphatase, $\alpha$-feto protein, HBsAg and anti-HBs), anti-HCV antibody test and liver ultrasonography were done. Results are as follows; 1. Result of evaluative examination utilizing only the items defined in Regulation was; There were 75 workers with suspected live. disorder(40.3%), 63 with no liver dysfunction (33.9%), 13 with suspected hepatitis B(7.0%), 10 workers with hepatitis B(5.4%), 10 workers with hepatitis B carrier state(5.4%), 10 with alcoholic liver disorders(5.4%), 5 with fatty liver(2.7%). When alternative diagnostic criteria applying additional examination items (drinking history, body mass index, anti-HCV antibody and ultrasonography) diagnosability of liver disorder was increased. When all four items were included, final results were; 23 workers (17.8%) with hepatitis B (10 carriers, 13 suspects and 10 hepatitis B), 10 (5.4%) with hepatitis C(4 carriers, 5 suspects and 1 hepatitis C), 13(7.0%) with alcoholic liver disorder, 45(24.2%) with fatty liver (40 suspects, 5 fatty liver), 410%) with suspected liver disorders and 44 (23.7%) with normal liver. 2. Of examination items defined by Regulation, only SGOT, SGPT, $\gamma$-GTP and HBsAg were significantly different in abnormal rate and mean value, and all other laboratory findings did not showed significant difference between two groups. Drinking history, body mass index and anti-HCV antibody test which are the items that authors included in this study, also showed significant difference between two groups. Utilization of body mass index (BMI) for abnormal liver function group in diagnosis of fatty liver had high specificity (97.6%) but sensitivity (22.3%) was low. Therefore we suggest that SGOT, SGPT, $\gamma$-GTP, HBsAg, alcohol drinking history, BMI and anti-HCV Ab were useful for diagnosis of liver disorders among worker's periodic health examination.

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Detection of Phase Error Due to the Doppler Effect in Low Earth Orbit Mobile Satellite Communication Network in the Presence of Interference and Rician Fading (간섭과 Rician 페이딩이 존재하는 저궤도 이동 위성 통신망에서 도플러 효과에 따르는 위상 에러의 검출)

  • 조훈주;김영철;강희조
    • The Journal of Korean Institute of Electromagnetic Engineering and Science
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    • v.7 no.1
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    • pp.71-82
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    • 1996
  • In this paper, the Doppler phase error due to the relative velocity between a satellite and the earth station in communications using a low earth orbit mobile satellite is detected. The performance of BPSK system in the presence of Rician fading with Doppler phase error and interference, noise is compared with that of the system disturbed by Doppler phase error and noise only. The expression of error rate performance of BPSK system is derived as the type of complementary error function. The numerical calculation of the induced equation are performed in terms of satellite-height, orbit-eccentricity, the velocity of the earth, Rician fading parameter, signal to interference rateio (SIR), the ratio of carrier frequency and base band bit rate. The main conclusion that can be drawn from this analysis is that Rician fading channel environment with Doppler phase error and interference effect yields severe performance degradation than Do- ppler phase error and noise effect in satellite communication channel. And using the numerical calculation, we give a quantitative insight how much the satellite communication channel parameters degrade the system performance. Furthermore it is shown that an appropriate transmission power control for the performance enhancement is beneficial to the new satellite communication system planning.

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Detection of Human Taurine Transporter and Production of Monoclonal Antibody

  • An, Hye-Suk;Han, Hee-Chang;Lee, Sun-Min;Park, Taesun;Park, Kun-Koo;Kim, Ha-Won
    • Proceedings of the Korean Society of Applied Pharmacology
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    • 2001.11a
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    • pp.102-102
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    • 2001
  • Taurine (2-ethaneaminosulfonic acid) is one of the major intracellular ${\beta}$ -amino acids in mammals and is required for a number of biological processes including membrane stabilization, osmoregulation, antioxidation, detoxification, modulation of calcium flux and neurornodulation. The taurine transporter (TAUT) which contains 12 hydrophobic membrane-spanning domains has been cloned from dog kidney, rat brain, mouse brain, human thyroid, placenta and retina. In this study, The TAUT cDNA from the human intestinal epithelial cell, HT-29 was cloned and sequenced. Reverse-transcription polymerase chain reaction (RT-PCR) was performed to amplify partial cDNA encoding human intestinal TAUT. The coding region of the PCR product was 732 bp long. The primers were designed to encode highly conserved amino acid sequences near the transmembrane domains III (IPYFIFLF) and Ⅵ (KYKYNSYR) both in human and mouse. The TAUT cDNA amplified was ligated into the pGEX 4T-1 expression vector. The resulting sequence of human intestinal TAUT cDNA (Accession number of NCBI Genebank is AF346763) was identical to the sequences of the TAUTs previously determined in the human placenta and retina except 3 base pairs from that of the reported human thyroid. TAUT specific antibodies were generated to use them as biological tools in the studies of the biological role of TAUT. Peptides of 149-162 amino acid residue (14 amino acids) of the TAUT were synthesized. The synthetic peptide used in this study was LFQSFQKELPWAHC. This region was chosen not only to avoid putative glycosylation sites but also to exclude regions of known homology with GABA transporters in the extracellular hydrophilic domains. The synthetic peptide, TAUT-1 was conjugated with carrier protein, kehole lympet hemocyanin (KLH) to use as an antigen. When used for immunization on a rabbit to produce polyclonal antiserum, the conjugates elicited high -titered specific anti-TAUT-1 antibodies, which reacted well with the ovalbumin (OVA) conjugated peptides in ELISA. The KLH-conjugated peptide was also used as immunizing antigen in BALB/c mice to produce TAUT specific monoclonal antibodies. From the culture supernatant of the hybridoma, the specificity of anti-TAUT-1 monoclonal antibodies was confirmed by ELISA. Further applications of more tools in TAUT expression analysis will be performed such as western blotting and flow cytometry.

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A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia

  • Ko, Jung-Min;Kwack, Kyu-Sung;Baek, Kum-Nyeo;Cho, Dae-Yeon;Kim, Hyon-Ju
    • Journal of Genetic Medicine
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    • v.6 no.1
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    • pp.81-86
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    • 2009
  • Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of 12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.

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Coated Wire Lead(Ⅱ) Ion-Selective Electrodes based on Crown Ethers (Crown Ether를 이용한 탐침형 납 이온선택성 전극)

  • Jang, Mi Kyeong;Ha, Kwang Soo;Seo, Moo Lyong
    • Journal of the Korean Chemical Society
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    • v.41 no.7
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    • pp.337-342
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    • 1997
  • Acryloylmethylbenzo-15-crown-5 was prepared from the reaction of 4'-hydroxymethylbenzo-15-crown-5 with acryloyl chloride. And, poly(acryloylmethylbenzo-15-crown-5) [poly(AMB15C5)] was synthesized by radical polymerization using AIBN as initiator in benzene. Coated wire lead(II) ion-selective electrodes ($Pb^{2+}$-CWISEs) using either poly(AMB15C5) or B15C5 as neutral carrier were prepared, respectively. $Pb^{2+}$-CWISEs gave linear responses with slopes of 28$\pm$ 1mV per decade within the concentration range of $10^{-5} M{\sim}10^{-1}$ M, respectively. Also, the detection limits were $10^{-6}$ M and response times were either 3 or 5 min. for B15C5 and poly(AMB15C5), respectively. $Pb^{2+}$-CWISE base on B15C5 was rather unstable than poly(AMB15C5)'s due to solubility of the B15C5 in water. The selectivity coefficients of a variety of interfering ions such as $Mg^{2+},\; Ca^{2+},\; Co^{2+},\; Ni^{2+},\; Cu^{2+},\; Zn^{2+}$ and $Cd^{2+}$ were small ($10^{-4}{\sim}10^{-5}$), while those of $Na^+$ and $K^+$ were large (0.1∼0.01). In addition, the electrode responses depended upon the pH of test solution and the composition of the membrane. In the range pH 3∼6 of test solution, potentials of Pb2+-CWISEs were hardly changed. The optimal contents of B15C5 and poly(AMB15C5) were 7.7 wt% and 13.1 wt%, respectively.

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