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Analysis of the association between bronchial hyperresponsiveness and genetic polymorphism of β2-adrenoceptor in adolescents with long-term asthma remission (장기간 천식 관해 청소년에서 지속되는 기관지 과민성과 β2-아드레날린 수용체 유전자 다형과의 연관성 분석)

  • Kang, Hee;Koh, Young Yull
    • Clinical and Experimental Pediatrics
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    • v.50 no.6
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    • pp.556-564
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    • 2007
  • Purpose : We hypothesized that the persisting bronchial hyperresponsiveness (BHR) of adolescents with asthma remission may be controlled mainly by genetic factors, and the BHR of symptomatic asthma by airway inflammation. ${\beta}_2$-adrenoceptor gene is considered to be a candidate gene in the development of BHR. Thus, ${\beta}_2$-adrenoceptor gene polymorphism may be associated with the BHR of adolescents with asthma remission, but not with the BHR of symptomatic asthma. To evaluate this hypothesis, ${\beta}_2$-adrenoceptor gene polymorphism at 2 sites (Arg16-Gly, Gln27-Glu) were examined. Methods : Two hundred two adolescents with BHR ($PC_{20}<18\;mg/mL$) and long term remission (neither asthma-related symptoms nor medication during the previous 2 years) of their asthma (remission group), 182 adolescents with symptomatic asthma (symptomatic group), and 200 healthy adolescents (control group) were studied. Asthma phenotypes were determined using methacholine bronchial provocation test and skin prick test. Genotypes of ${\beta}_2$-adrenoceptor polymorphism were evaluated by PCR-based methods. Results : Gly/Gly allele and Gly16-Gln27 haplotype were more prevalent in the remission group than in the control group (P=0.01, P=0.02), although there was no difference between the symptomatic group and the control group. In the remission group, there was significant difference in geometric mean of $PC_{20}$ among the 3 groups subdivided by the number of Gly16-Gln27 haplotype, showing that the Gly16-Gln27 haplotype was positively associated with BHR. However, no association was found between Gly16-Gln27 haplotype and BHR in the symptomatic group. Conclusion : This study demonstrates that ${\beta}_2$-adrenoceptor polymorphism at amino acid 16 and 27 was associated with BHR persisting in adolescents with asthma remission.

Association between Genotypes of the Isocitrate Dehydrogenase 3, beta subunit (IDH3B) Gene and Carcass Traits in an F2 Crossbred Population of Landrace × Jeju (Korea) Black Pigs (제주흑돼지와 랜드레이스 교배 2세대의 도체형질과 IDH3B 유전자형의 상관관계)

  • Kang, Yong-Jun;Jeong, Dong Kee;Cho, In-Cheol;Han, Sang-Hyun
    • Journal of Life Science
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    • v.26 no.4
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    • pp.414-418
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    • 2016
  • This study tested the association between genetic polymorphisms of the isocitrate dehydrogenase 3, beta subunit (IDH3B) gene and economic traits in an F2 crossbred population of Landrace × Jeju (South Korea) Black pigs. A 304-bp insertion/deletion mutation in promoter region was screened for determining genotypes of the IDH3B gene in a total of 1,105 F2 pigs. Three genotypes (AA, AB, and BB) were identified in the founder, F1, and F2 populations. Association analysis showed significant differences in carcass weights (CW), backfat thicknesses in three positions of the body (4th-5th ribs, BF5; 11th-12th ribs, BF12; 13th rib-1st lumbar, BFL), and carcass lengths (CL) (p<0.05), but not in meat color (MC), eye muscle area (EMA), or marbling scores (MARB) (p>0.05). The F2 IDH3B BB homozygotes showed heavier CW (80.790±0.725 kg) and shorter CL (101.875±0.336 cm) than the other genotypes (p<0.05). In addition, the BF levels between the 4th - 5th and 11th - 12th vertebrae were thicker in the carcasses of pigs with the IDH3B BB genotype than with the other genotypes (p<0.05). These results suggested that genetic variations in the IDH3B gene may serve as molecular genetic markers for improving the Landrace × Jeju Black pig crossbreeding systems.

Effect of Radiation Dose for Radiotherapy on Ovarian Follicle Atresia in Rat (치료 방사선량이 쥐의 난포 퇴축에 미치는 영향)

  • Lee, Won-Jeong;Seon, Jong-Ryul;Yoo, Se-Jong;Ahn, Bong-Seon
    • Journal of Radiation Protection and Research
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    • v.37 no.4
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    • pp.208-212
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    • 2012
  • In previous studies, ovarian follicle in rat has been used a higher radiation dose than that for cancer radiotherapy in clinical practice. The aim of this study was to evaluate the effect of radiation dose used for cancer radiotherapy on ovarian follicle atresia in rat. Mice of 4-week-old female were whole body irradiated with 2 cGy or 2 Gy (Mevatron 67, Siemens, Germany) and sacrificed by cervical dislocation. Ovaries were collected at 24 hours after irradiation to observe the degree of follicular atresia. Ovaries were fixed in neutral formaldehyde solution for 24 hours and embedded with paraffin. Cutted in $5{\mu}m$ thickness with microtome and stained with hematoxylin and eosin (H&E) and TUNEL immunohistochemical stain, and examined histologically under a light microscope. All data were presented as mean ${\pm}SD$, calculating the ratio of normal or atretic follicles to total ovarian follicles. Statistical analysis was performed by the Mann Whitney test using the SPSS ver 19.0. Ratio of atretic to total follicles of 2 Gy group was significantly higher than control or 2 cGy groups (p<0.05). Ratio of normal to total follicles of 2 Gy group was significantly lower than control group in preantral follicle (64.0 vs. 87.7, p=0.027). Ratio of normal to total follicles of 2 cGy group was significantly increased more than control or 2 Gy groups in antral follicle, and there were no significant difference between control and 2 Gy groups (p=0.522). Radiation dose of 2 Gy for cancer radiotherapy have a significant effect on ovarian follicle atresia in rat.

Laminin-1 Expression in Bone Marrow Stromal Cells of Cyclophosphamide-treated Rat (Cyclophosphamide가 흰쥐 골수의 기질세포에서 Laminin-1의 발현에 미치는 영향)

  • Lee, Chang-Hun;Chung, Ho-Sam;Paik, Doo-Jin;Hwang, Se-Jin;Kim, Won-Kyu;Youn, Jee-Hee;Kim, Chong-Kwan
    • Applied Microscopy
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    • v.32 no.4
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    • pp.385-398
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    • 2002
  • The purpose of the present study is to investigate whether stromal cells supporting specific microenvironment for hematopoiesis of bone marrow are affected by toxicants and therapeutic drugs such as antibiotics and anticancer drugs and whether laminin-1 is associated with such effects. SD rats were intraperitoneally injected with 75 mg/kg of cyclophosphamide which is widely used to treat infant's solid tumor, leukemia and myeloma and sacrificed after 3 days, 1 week, 3 weeks or 5 weeks of injection. The bone marrow extracted and paraffin-sectioned was analyzed using immunohistochemical staining. A part of tissues was subjected to electron microscopy following reaction with rabbit anti-laminin antibody, biotinylated goat anti-rabbit IgG conjugated with 12 nm gold particles, and staining with uranyl acetate. 1. The bone marrow tissue at day 3 post injection with cyclophosphamide displayed dilated venous sinus, partial necrotic death, and decreased number of hematopoietic cells. Laminin-1 was intensively stained in the reticular and adipose tissues. 2. Up to 5 weeks post injection, laminin-1 was stained at a low level in the stromal tissue of bone marrow and the number of hematopoietic cell was increased. 3. Deposition of the gold particle which represents laminin-1 expression was observed at the highest level in the stromal cells of bone marrow obtained 3 days after injection, and decreased after 1 to 5 weeks. These results suggest that stromal cells which play a role in supporting microenvironment for bone marrow hematopoiesis augment induction of laminin-1 expression and activation upon administration of cyclophosphamide.

Genetic Variation in Physiological Traits of Gynogenetic Diploid and Clonal Ayu, Plecoglosse altivelis : Tolerance to the Water Temperature and Salinity (은어의 자성발생 2배체와 Clone의 생리적 형질에 대한 유전적 변이성 : 수온과 염분내성)

  • 한현섭
    • Development and Reproduction
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    • v.4 no.2
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    • pp.153-160
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    • 2000
  • In this study, genetic variation in the 5 strains of 2N-cont, meiotic-G2N, mitotic-G2N and two types of clones with different genetic backgrounds was investigated by developing their tolerance to water temperature and salinity, which is a physiological trait, into a quantitative trait. The temperature was set at 19$^{\circ}C$, 22.5$^{\circ}C$, 25$^{\circ}C$ and 30$^{\circ}C$, each of which was combined with 0$\textperthousand$, 15$\textperthousand$ and 30$\textperthousand$ of salinity respectively, making 12 groups in all. In the mean survival time (MST), samples with 15$\textperthousand$ of salinity showed the longest survival time at all temperatures. The 2N-cont had the longest 126.16 h followed by clone-11 and clone-15 surviving for 113.22 h and 91.05 h respectively. Gynogenetic diploids showed the shortest 87,32 h and 36.56 h. At 22.5 and 25$^{\circ}C$, MST of each strain was significantly short, showing similar results to those of the groups at 19$^{\circ}C$. The 2N-cont had the longest MST while clones had a longer MST than gynogenetic diploids. This could be due to gynogenesis which causes homozygosis among malignant harmful genes, leading to its appearance in populations and resulting in early death in individuals with such genes. On the other hand, MST of clones was longer than that of gynogenetic fish. This could be because the 1st gynogenetic generation, which is a parental population, has already had its malignant genes removed, while the clones of the 2nd gynogenetic generation have had their superior genes fixed as well as their tolerance and survival improved. When temperature was raised to 22.5$^{\circ}C$ and 25$^{\circ}C$, increase in variation was observed in gynogenetic diploids and decrease in clones in 15$\textperthousand$ of salinity. This shows that such a trait is genetic to a certain extent. Consequently, if this character is developed into a quantitative trait and applied to selective breeding, it could be a useful character to secure superior strains and individuals, and also it would be possible to improve populations genetically through selection.

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Evaluation of Morphological Traits and Genetic Composition in Melon Germplasm (멜론 유전자원의 형태적 특성 및 유전적 구성 평가)

  • Lee, Seungbum;Jang, Ik;Hyun, Do Yoon;Lee, Jung-Ro;Kim, Seong-Hoon;Yoo, Eunae;Lee, Sookyeong;Cho, Gyu-Taek;Lee, Kyung Jun
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.65 no.4
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    • pp.485-495
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    • 2020
  • Melon (Cucumis melo L.), one of the most important fruit crop species, is cultivated worldwide. In this study, a total of 206 melon accessions conserved at the National Agrobiodiversity Center (NAC) in RDA were characterized for nine morphological characteristics according to the NAC descriptor list. In addition, to confirm the genetic composition of each melon accession, genetic profiling was performed using 20 SSR markers. Among the 206 melon accessions, 159 (77.2%) were collected from Asia. The color of fruit flesh and skin were mostly 'white' (56.0%) and 'green' (49%), respectively. Days to female flowering (FD) and maturity (MD) of the accessions ranged from 58 to 72 and 17 to 63, respectively. The fruit length and width of the accessions ranged from 6.0 to 29.3 and 3.6 to 17.2 cm, respectively. The sugar content (SU) ranged from 2.5% to 13.2% with an average of 7.0%. In correlation analysis, SU showed positive and negative correlations with MD and FD, respectively. The accessions were classified into four clusters by cluster analysis. From the results of genetic profiling using 20 SSR markers, three accessions (K189118, K100486, and K190292) were expected to be inbred lines among 206 melon accessions. These results could expand the knowledge of the melon germplasm, providing valuable material for the development of new melon varieties to suit consumer tastes.

The association between polymorphisms of ${\beta}$-adrenoceptors and preeclampsia

  • Lim, Ji-Hyae;Kim, Shin-Young;Park, So-Yeon;Yang, Jae-Hyug;Han, Jung-Yeol;Hong, Dal-Soo;Choi, June-Seek;Choi, Kyu-Hong;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.160-166
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    • 2007
  • Purpose : The ${\beta}$-adrenoceptors are pharmacologically classified into ${\beta}_1$-, ${\beta}_2$- and ${\beta}_3$-adrenoceptor. The gene of each subtype has polymorphisms related to their function (${\beta}_1$-adrenoceptor: Ser49Gly, ${\beta}_2$-adrenoceptor: Gln27Glu, ${\beta}_3$-adrenoceptor: Trp64Arg). The objectives of this study were to analyse the allelic and genotypic distribution of the representative polymorphism of ${\beta}$-adrenoceptors in preeclampsia and to investigate whether combined genotype of ${\beta}$-adrenoceptors may be associated with preeclampsia. Methods : Blood samples were collected from a Korean population (159 preeclamptic pregnancies and 168 normotensive pregnancies). The ${\beta}_1$-, ${\beta}_2$- and ${\beta}_3$-adrenoceptor genotypes was determined using polymerase chain reaction-restriction fragment length polymorphism. Results : There were no differences in allelic and genotypic distribution of ${\beta}_1$- and ${\beta}_2$-adrenoceptor polymorphisms between the two groups. However, the Arg allele of ${\beta}_3$-adrenoceptor polymorphism were more frequent in preecalmpsia than in controls (P<0.05, OR=1.57, 95% CI=1.01-2.46). Moreover, prevalence of genotype carrying heterozygote of ${\beta}_3$-adrenoceptor polymorphism was increased in preeclampsia compared with controls (P<0.05, OR 1.76, 95% CI 1.06-2.92). When combination of the three polymorphisms were evaluated, pregnancies with the particular combined genotype that is consisted of heterozygote of ${\beta}_1$-, ${\beta}_3$-adrenoceptor and wild homozygote of ${\beta}_2$-adrenoceptor (Ser/Gly, Gln/Gln, Trp/Arg), showed a significant increase in the risk of preeclampsia (P<0.05, OR=3.01, 95% CI 1.12-8.08). Conclusion : A particular combined genotype (Ser/Gly, Gln/Gln, Trp/Arg) of - adrenoceptors was associated with the risk of preeclampsia.

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On the penecontemporaneous deformation structures of the Sinri area at the mid western boundary of the Jinan Basin (진안분지 서변 중앙부 신리지역의 준퇴적동시성 변형구조)

  • Lee Young-Up
    • The Korean Journal of Petroleum Geology
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    • v.6 no.1_2 s.7
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    • pp.8-19
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    • 1998
  • In the Sinri area located at the mid western boundary of the Jinan basin, the Manduksan Formation which mainly consists of coarse sandstone narrowly intercalated with shale and the alternation of sand and shale and the Dalgil Formation mainly of shale are distributed. It consists of four lithofacies, such as coarse sandstone, interbedded sandstone/shale, shale and volcanic rock lithofacies. All sediments are interpreted to be deposited by turbidity currents and free fallouts in a lacustrine basin. In these rocks many penecontemporaneous defomation structures are observed such as fold and thrust fault at large scale, and swelling, boudin structure, flame structure, load structure, ptygmatic fold and convolute bedding at small scale. All these structures are developed between upper and lower undisturbed sedimentary strata. Two large folds are similar folds, but lower one gradually developed into concentric shape. The swelling structures by convergence of the sediments are observed in the hinge area and the boudin structures are developed in the limb. The thrust faults including minor folds and sandstone lobes show duplex structure with asymmetric and kink fold on and below in front of the detached sandstone layer. Development of the swellings, boudins and lobes indicates the flexbility of the sediments during deformational episodes. The folds and thrust faults rarely contain fractures relative their scales and lithologies. This feature also indicates the retrievability of sediments during deformation. At the flanks of the thrust faults the normal faults are formed contemporaneously. The deformation structures at small scale such as flame structures, load structures, ptygmatic folds and convolute beddings are syndepositional and penecontemporaneous, which show the effects of tectonic movements. All these deformed sedimentary structures of the Sinri area suggest the continuing tectonic movements during and/or after deposition.

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Association between IDH3B Genotypes and Economic Traits in a Crossbred F2 Population between Duroc and Jeju Native Black Pigs (제주재래흑돼지와 듀록 교배 세대에서 IDH3B 유전자형과 경제형질의 연관성)

  • Park, Hee-Bok;Han, Sang-Hyun;Kang, Yong-Jun;Shin, Moon-Cheol;Lee, Jae-Bong;Cho, In-Cheol
    • Journal of Life Science
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    • v.27 no.3
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    • pp.295-300
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    • 2017
  • This study examined the association between genotypes of the isocitrate dehydrogenase 3, beta subunit (IDH3B) gene and economic traits in an $F_2$ population of Duroc and Jeju (South Korea) native black pigs (JBPs). The genotypes was determined the presence/absence of a 304-bp insertion/deletion fragment in the promoter region of the IDH3B gene for JBP, Duroc, and their $F_1$ and $F_2$ progeny. Three genotypes (AA, AB and BB) were found in the $F_1$ and $F_2$ populations, but there was no AA genotype found in JBP and no BB in Duroc. Association analysis results showed the significant differences with carcass weights (CW), backfat thicknesses (BFT) and eye muscle area (EMA) (p<0.05), but not with growth traits including body weights and average daily gains at different stages, reproductive traits including teat numbers, and crude fat contents (CFAT) measured in longissimus dorsi (p>0.05). The $F_2$ pigs possessing the IDH3B BB homozygote had heavier CW ($72.92{\pm}11.133kg$), thicker BFT ($25.75{\pm}6.06mm$), and larger EMA ($23.82{\pm}4.825cm^2$) than those from the other genotypes (p<0.05). These results were estimated that there are biological roles related with IDH3B genotypes resulting development of EMA, BFT, and CW but not with intramuscular fat deposition during late period of pig production. Our findings suggest that the 304-bp insertion allele of porcine IDH3B may be a genetic marker for marker assistant selection for improving meat productivity of the Jeju Black pig and Duroc-related molecular breeding systems.

Clinical Features, Molecular Analysis, and Outcome of ERT in Korean Patients with Mucopolysaccharidosis Type VI (국내 6형 뮤코다당증의 임상 양상, 분자유전학적 특징 및 효소치료의 효과에 대한 고찰)

  • Wichajarn, Khunton;Kim, Jinsup;Yang, Aram;Sohn, Young Bae;Lee, Beom Hee;Yoo, Han-Wook;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.1
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    • pp.24-33
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    • 2016
  • Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

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