• Title/Summary/Keyword: 변이분석

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Identification of Tumor Suppressor Loci on the Short Arm of Chromosome 16 in Primary Small Cell Lung Cancers (원발성 소세포폐암에서 염색체 16번의 단완에 위치한 종양억제유전자좌의 확인)

  • Kee, Hyun Jung;Shin, Ju Hye;Chang, Joon;Chung, Kyung Young;Shin, Dong Hwan;Kim, Young Sam;Chang, Yoon Soo;Kim, Sung Kyu;Kwak, Seung Min;Kim, Se kyu
    • Tuberculosis and Respiratory Diseases
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    • v.55 no.6
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    • pp.597-611
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    • 2003
  • Background : Loss of the short arm of chromosome 16 is a frequent event in various cancers, which suggests the presence of tumor suppressor gene(s) there. To map precise tumor suppressor loci on the chromosome arm for further positional cloning efforts, we tested 23 primary small cell lung cancers. Method : The DNAs extracted from paraffin embedded tissue blocks with primary tumor and corresponding control tissue were investigated. Twenty polymorphic microsatellite markers located in the short arm of chromosome 16 were used in the microsatellite analysis. Results : We found that six (26.1%) of 23 tumors exhibited LOH in at least one of tested microsatellite markers. Two (8.7%) of 6 tumors exhibiting LOH lost a larger area in chromosome 16p. LOH was observed in five common deleted regions at 16p. Among those areas, LOH between D16S668 and D16S749 was most frequent (21.1%). LOH was also observed at four other regions, between D16S3024 and D16S748, D16S405, D16S420, and D16S753. Six of 23 tumors exhibited shifted bands in at least one of the tested microsatellite markers. Shifted bands occurred in 3.3% (15 of 460) of the loci tested. Conclusion : Our data demonstrated that at least five tumor suppressor loci might exist in the short arm of chromosome 16 and that they may play an important role in small cell lung cancer tumorigenesis.

Partial Interferon-γ Receptor Deficiency in Patients with Disseminated Tuberculosis (파종성 결핵 환자에서 interferon-γ 수용체의 부분결핍에 관한 연구)

  • Hwang, Jung Hye;Koh, Won-Jung;Lee, Shin Hye;Kim, Eun Joo;Kang, Eun Hae;Suh, Gee Young;Chung, Man Pyo;Kim, Hojoong;Kwon, O Jung
    • Tuberculosis and Respiratory Diseases
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    • v.58 no.1
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    • pp.11-17
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    • 2005
  • Background : Interferon-gamma ($IFN-{\gamma}$) is essential in the immune response to mycobacterial infections, and a complete or partial deficiency in the $IFN-{\gamma}$ receptor 1 ($IFN{\gamma}R1$) or the $IFN-{\gamma}$ receptor 2 ($IFN{\gamma}R2$) have been reported to confer susceptibility to a disseminated infection with nontuberculous mycobacteria. However, similar mutations in the $IFN-{\gamma}$ receptor have not been specifically examined in the patients with clinical tuberculosis. Methods : This study searched for mutations in the $IFN-{\gamma}$ receptor gene that resulted in a partial $IFN-{\gamma}$ receptor deficiency in six patients with disseminated tuberculosis. The previously identified $IFN{\gamma}R1$ and $IFN{\gamma}R2$ coding regions were sequenced after amplification. Results : There was no partial $IFN{\gamma}R1$ deficiency including a homozygous recessive missense mutation causing an amino-acid substitution in the extracellular domain of the receptor (I87T) and a hotspot for small deletions (818delT, 818del4, 818insA) found in any of the patients. In addition, a partial $IFN{\gamma}R2$ deficiency of the homozygous missense mutation (R114C) was not found in any of the patients. Conclusion : Genetic defects causing a partial $IFN-{\gamma}$ receptor deficiency were not identified in our patients with disseminated tuberculosis.

Morphological, Physiological andd Biochemical Characteristics of Early Senescence Mutant in Rice (Oryza sativa L) (벼의 조기노화 변이체의 형태, 생리 및 생화학적 특성)

  • 이숙영
    • Korean Journal of Plant Resources
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    • v.8 no.3
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    • pp.325-334
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    • 1995
  • The early senescence mutant induced from Gihobyeo by $\gamma-ray$ irradiation was determined. The mutated gene expression was identified with comparing the characteristic of original cultivar. The mutant had so similar the morphological characteristics to original cultivar that it couldn't be distinguished until senescence occurred at about 20 days after heading. Suddenly yellow leaves were observed within a few days due to great decreases in total chlorophyll and various carotenoid contents. Transmission electron microscopy showed the formation of starch granules, distortion of fine structure of leaf cell organelles, especially grana structures, and the decrease in grain filled after senescence occurred. But banding patterns of total proteins and isozymes have not show any differences, The early senescence mutant will be very useful for study material not only on physiological and biochemical properties of plant senescence but also on gene expression regulating senescence which gives great influence on yield potential and its stability.

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Influence of Seeding Date on Flowering and Yields of Introduced Mungbean Cultivars (Vigna radiata L.) (파종기(播鍾期)의 차이(差異)가 도입(導入)된 녹두품종(綠豆品鍾)의 개화(開花) 및 수량(收量)에 미치는 영향(影響))

  • Kim, Yong-Rae;Pyon, Jong-Yeong;Shin, Hey-Suck
    • Korean Journal of Agricultural Science
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    • v.4 no.1
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    • pp.51-60
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    • 1977
  • In order to determine ecological variations of flowering date and yields under the different seasonal cultures, and to select the higher yielding varieties which were adaptable to Korean climate, 100 mungbean cultivars were sown at the interval of 15 days from April 22 to July 21 in 1976. The results obtained are summarized as follows: 1. The number of days required to flowering from seeding were decreased by delaying the seeding date. 2. When accumulated temperature at first flowering from seeding were reached $945-1,126^{\circ}C$, the mungbean cultivars started to flower regardless of seeding dates. Especially, when mungbean was planted around standard planting date, the plants flowered for very short duration. 3. There were highly significant correlations between the number of days from seeding to flowering at each seeding date and standard planting date. 4. Yields per plant were tend to decrease with the delay of seeding date but there were no significant difference between seeding dates. Therefore, it appears that mungbean can be planted for longer period of time compared to other crops such as rice and soybean. 5. Highly significant correlations were found between the number of days of first flowering and yields per plant at most seeding dates. 6. It may be feasible to grow high yielding mungbean cultivars such as CES 140, LM 2100, LM 690, L 576 and LM 689 after harvesting of spring vegetables in May and before planting of fall vegetables.

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Coat Color Patterns and Genotypes of Extension and Agouti in Hanwoo and Jeju Black Cattle (제주흑우와 한우에서 Extension, Agouti 유전자형과 모색 출현 양상)

  • Han, Sang-Hyun;Cho, In-Cheol;Kim, Jae-Hwan;Ko, Moon-Suck;Kim, Young-Hoon;Kim, Eun-Young;Park, Se-Pill;Lee, Sung-Soo
    • Journal of Life Science
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    • v.21 no.4
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    • pp.494-501
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    • 2011
  • To understand the relationship between coat color inheritance patterns and genotypes of Extension (E) and Agouti (A) loci in cattle, the genotypes for melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) were analyzed in Hanwoo, Jeju black cattle (JBC), and their crossbred progeny. Three MC1R alleles ($E^D$, $E^+$, and e) were found in the black-colored JBC population. JBC had no recessive homozygotes (e/e), but this genotype was predominant in the Hanwoo breed. However, MC1R $E^+$/e Hanwoo did not produce a black coat color as they appeared either as brown or solid red. For ASIP, three genotypes (A/A, A/$A^{Br}$, and $A^{Br}/A^{Br}$) were determined by insertion/deletion of an L1-BT element in Hanwoo. The ASIP $A^{Br}$ allele was rarely observed, and no ASIP $A^{Br}/A^{Br}$ homozygotes were detected in the JBC population. Cattle carrying ASIP $A^{Br}$ did not show any agouti-like brindle pigmentation patterns in either breed or their progeny. The coat colors of the crossbred progeny were discriminated by two colors, yellowish-brown versus dark-brown or black, and their coat colors were directly related to the genotypes of the Extension locus, yellowish-brown (e/e) and dark-brown or black ($E^+$/e), but not to the Agouti locus. ASIP genotypes probably did not affect coat color development in the Hanwoo or crossbred progeny. Our results suggest that the ASIP genotypes do not play key roles in coat color variation, but the MC1R genotypes do direct the phenotypes of Hanwoo, JBC, and their progeny.

Alterations of Heart Rate Variability upon β3-Adrenergic Receptor Polymorphism and Combined Capsaicin, Sesamin, and L-Carnitine in Humans (복합 캡사이신, 세사인, 그리고 카르니틴과 베타3 유전자 다형에 대한 심박수 변이성의 영향)

  • Shin, Ki-Ok;Kim, Hyun-Jun;Kang, Sung-Hwun
    • Journal of Life Science
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    • v.18 no.3
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    • pp.291-297
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    • 2008
  • We investigated whether 1) the combined capsaicin (75 mg), sesamin (30 mg), and L-carnitine (900 mg) (CCSC) ingestion enhances autonomic nervous system (ANS) activities including thermogenic sympathetic activity as energy metabolic modulator, 2) ${\beta}_3-AR$ polymorphism of each subject influences with ANS activity. Seven healthy males $(22.0{\pm}0.5\;yr)$ volunteered for this study. The cardiac autonomic nervous activities evaluated by means of heart rate variability of power spectral analysis were continuously measured during 5 min every 30 min for total 120 min resting condition with CCSC or placebo oral administration chosen at random. The results indicated that, there are not $Arp/Arg^{64}$ variants of the ${\beta}_3-AR$ genotypes in our subjects. There were not also significant differences in heart rate during rest between both trials. The difference of ANS activity did not reach the statistical significance between both trials. However, the significant improvement showed TOTAL power, HF component, and the indices of SNS and PNS activities before and at 30 min after CCSC ingestion (p<0.05, respectively). In conclusions, although each component of combined CCSC is associated with lipolysis and/or fat oxidation, the combined CCSC consumption is not influenced in stimulation of thermogenic sympathetic activity as modulator of energy metabolism. In rather, our results suggested that CCSC ingestion improves the balance of both SNS and PNS activities. Therefore, it will be considered many combined nutrient components for ergogenic and/or lipolysis effects as well as genetic variants affecting ANS activity in further studies.

Changes in Physicochemical Properties and Antioxidant Activities according to Different Harvest Times in Black Rice (Oryza sativa L.) (흑미 수확시기에 따른 이화학적 특성 및 항산화 활성 변화)

  • Park, Ji-Young;Han, Sang-Ik;Hur, Yeon-jae;Lee, Yu-Young;Lee, Byung-Won;Sim, Eun-Yeong;Ham, Hyeonmi;Kim, Byeong-Ju;Lee, Chun-Woo;Lee, Sung-Joon;Oh, Sung-Hwan
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.44 no.11
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    • pp.1653-1659
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    • 2015
  • This study compared physicochemical properties and antioxidant activities according to different harvest times in five varieties of black rice (BR). Five cultivars of BR, Nunkeunheukchal (NKHC), Sinnongheugchal (SNHC), Sintoheugmi (STHM), Josaengheugchal (JSHC), and Heugjinju (HJJ), were selected for the study. Cultivars were transplanted on June 20th and cultivated by the Department of Southern Area Crop Science, NICS in Miryang, Korea. Heading dates of NKHC, SNHC, STHM, JSHC, and HJJ were Aug. 17th, Aug. 30th, Sep. 1st, Aug. 20th, and Aug. 12th, respectively. The five different harvest times were as follows; 35, 40, 45, 50, and 55 days after heading date. The highest level of anthocyanin was 35 days after heading date in all varieties. Levels of anthocyanin in NKHC, SNHC, STHM, JSHC, and HJJ were 164, 203, 251, 67, and 210 mg/100 g, respectively. Content of anthocyanin significantly decreased 35 days after heading in four varieties, excluding JSHC. Highest DPPH $IC_{50}$ values were 57, 29, 10, and $27{\mu}g/mL$ in NKHC, SN HC, STHM, and JSHC extracts, respectively. Highest ABTS $IC_{50}$ values were 24, 13, 9, and $11{\mu}g/mL$ in NKHC, SNHC, STHM, and JSHC extracts, respectively. The antioxidant activities were highest 35 days after the heading date and significantly decreased in four varieties, excluding HJJ. The antioxidant activity of HJJ showed no significant difference, according to harvest time. This study suggests that the content of anthocyanin and antioxidant activity could be considered as factors affecting optimal harvest period to produce highly qualified black rice.

Genetic Monomorphism of the Natural Ilex cornuta Community at the Northern Range Limit in Buan, Jeollanam-do in Korea Revealed by AFLP Markers (AFLP 표지자에서 나타난 전라남도 부안의 북방한계지에 자생하는 호랑가시나무 군락의 유전적 단형성)

  • Hong, Kyung Nak;Park, Yu Jin;Lee, Jei Wan;Kim, Young Mi
    • Journal of Korean Society of Forest Science
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    • v.104 no.2
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    • pp.187-192
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    • 2015
  • Individuals in the population under a particular environmental condition influencing recurrently for a long time could locally adapted and local adaptation is of a fundamental importance in a breeding program, conservation activities of genetic resources or evolutionary biology. Plants at northern range limits have higher probability of expressing an adaptative genetic trait. The natural community at the northern range limit of Ilex cornuta (Chinese holly) in Buan, Jeollanam-do in Korea was composed of adults of 744 and seedlings of 211 (hereafter Community) and is designated as the Korean Natural Monument (No. 122) by the law. At two adjacent areas to Community, 85 (hereafter Plantation I) and 27 hollies (hereafter Plantation II) were planted respectively for preparations of the next generation. Eighty-five trees were sampled for genetic analysis in the three groups. Fifty-two (36%) of the total 143 amplicons were polymorphic from four AFLP primer combinations. A total of thirteen genotypes was identified and just one genotype was for 52 trees of Community. Seven and five genotypes were shown for Plantation I and II, respectively. There was no identical genotype between Community and Plantation (I or II) or between two plantation groups. Number of private loci was 2 for Community, 6 for Plantation I and 4 for Plantation II. We presumed their genetic backgrounds were quite different with one another and the plantation groups were made independently because they were different not only the genetic compositions but also their ages. Considering the genetic monomorphism by AFLP markers, observations of only male trees and asexual propagation as layerage or cuttage, the hollies in Community might be a genet by root suckering from a single male tree, not the results of selective removal of female trees for ornamental use in the past.

Production of Ginsenoside in the Hairy Roots Irradiated by 60Co γ on Panax ginseng C.A Meyer (60Co γ 를 조사한 인삼모상근 돌연변이 세포주의 생장과 Ginsenoside의 생산)

  • Choi, Kyu-Myoung;Kwon, Jung-Hee;Ban, Sung-Hee;Yang, Deok-Cho
    • Journal of Ginseng Research
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    • v.26 no.4
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    • pp.219-225
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    • 2002
  • Study was performed to know the effects of Panax ginseng C.A. Meyer hairy root due to $^{60}$ Co ${\gamma}$-ray irradiation. We irradiated the hairy roots under the various $^{60}$ Co ${\gamma}$-ray; 0.5~4 Krad. The growth of hairy roots is inhibited over 3 Krad treatment. The lateral roots are used as a cell line after removing the apical meristem of hairy roots irradiated below 2 Krad. We selected 206 hairy root cell lines having various different growth rates and forms, and incubated in the 1/2 Murashige & Skoog(MS) medium in the absence of hormone. We selected 10 out of 206 showing superior growth. Among those, ${\gamma}$-GHR 70 and ${\gamma}$-GHR 94 showed higher growth; 34.5, 44.7%, respectively. We observed shapable, sizable characteristics according to the width of the primary roots, the process formation of the lateral roots, and the growth of lateral roots. The discriminable cell line showed that primary root is thinner, and has a vigorous growth. 8 out of 10 had much more contents than control in the aspect of the ginsenoside. ${\gamma}$-GHR 59 and ${\gamma}$-GHR 94 showed higher contents; 19, 16.9%, respectively. Therefore, we selected ${\gamma}$-GHR 70, ${\gamma}$-GHR 94 as a superior cell line in the aspect of ginsenoside contents, and growth among those irradiated by ${\gamma}$-ray. According to content of ginsenoside, Rb$_2$ effective in anticancer has 7.5% of ${\gamma}$-GHR 59. Rc, also effective in anticancer showed 16.2% content increasement of ${\gamma}$-GHR 69. It is thought that those lines will be effective in manufacturing ginsenoside. Gene analysis (VNTRP) related to the mutation is in progress.

Clinical Characteristics and Heart Rate Variability in Patients with Comorbid Panic Disorder and Major Depressive Disorder (주요우울장애가 동반된 공황장애 환자의 임상 특징과 심박변이도)

  • Choi, Young-Hee;Kim, Won;Kim, Min-Sook;Yoon, Hye-Young;Choi, Seung-Mi;Woo, Jong-Min
    • Sleep Medicine and Psychophysiology
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    • v.12 no.1
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    • pp.50-57
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    • 2005
  • Objectives: This study was designed to evaluate the differences in clinical characteristics and severity of symptoms between panic patients with and without comorbid major depressive disorder, and to ascertain the differences in the function of the autonomic nerve system measured by heart rate variability (HRV). Methods: The subjects were 60 patients who have panic disorder without major depressive disorder and 19 patients who met DSMIV criteria for both panic disorder and major depressive disorder. First, they drew up symptom checklists and self-rating scales, and were measured by Anxiety Disorder Inventory Schedule-Panic Attack & Agoraphobia (ADIS-P&A), Clinical Global Impression (CGI), Hamilton Rating Scale for Depression (HAM-D), Panic Disorder Severity Scale (PDSS) and Heart Rate Variability (HRV). For statistical analysis, we performed t-test to compare the scores of self reported scales and clinician’s rating scales in panic patients with comorbid major depressive disorder and those without major depressive disorder. ANCOVA was used to compare the variables of HRV, considering age as a covariate. Results: The subjective severities of depression and anxiety that comorbid patients complained of were higher than those of patients with only panic disorder. Futhermore, comorbid patients were more sensitive to anxiety and physical sensations, and they tend to be more negative in their thinking. The scores of clinician-rating scales such as CGI and PDSS were also higher in the comorbid patients. However, there were no significant differences in HRV variables between both groups, despite a tendency to low heart rate variability in the comorbid group. Conclusion: This study suggests that patients with panic disorder and comorbid major depressive disorder tend to complain of more symptoms and to be more sensitive to various symptoms than those with panic disorder without comorbid depression. However, in this study comorbid major depressive disorder did not have a significant impact on the HRV variables of patients with panic disorder.

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