• Title/Summary/Keyword: Genetic test

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Prognostic Value of p53 Overexpression in Patients with Pathologic Stage I Non-small Cell Lung Cancer (제 1기 비소세포폐암 환자에서 p53 과발현과 예후의 관계)

  • Um, Sang-Won;Kim, Hojoong;Kwon, O Jung;Han, Joungho;Shim, Young Mog
    • Tuberculosis and Respiratory Diseases
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    • v.65 no.6
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    • pp.487-494
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    • 2008
  • Background: Chromosome 17p allele losses and mutations of p53 gene are the most common genetic abnormalities in lung cancer. The purposes of this study were to evaluate the factors associated with p53 protein overexpression and to evaluate its prognostic value in patients with pathologic stage I non-small cell lung cancer (NSCLC). Methods: This is a retrospective review for the patients who underwent surgical resection at Samsung Medical Center between Jan 2003 and Jun 2004. Immunohistochemical staining for p53 protein was performed on tumor tissues from patients with lung cancer. The p53 overexpression was evaluated in relation to age, sex, smoking history, histology and pathologic stage by univariate and multivariate analyses. The disease-free survival (DFS), disease-specific survival (DSS) and overall survival (OS) were analyzed using the Kaplan-Meier methods and the differences in DFS, DSS and OS were assessed by using the log-rank tests. Results: A total of 125 patients were included in the analysis and a median frequency of p53 expression in tumor tissue was 10%. The p53 overexpression (${\geq}10%$) was more common in squamous cell carcinoma (66%) than in adenocarcinoma (38%, p=0.002). The p53 overexpression was more common in pathologic stage IB (59%) than in IA (38%, p=0.002). Patients with p53-overexpressing tumor (27 years) smoked more years compared with those without it (20 years, p=0.032). Smoking history ${\geq}25$ pack-years was more common in patients with p53 overexpression (58%) than in those without it (38%, p=0.024). In the multivariate analysis, only histology was significantly associated with p53 overexpression. However, there were no significant differences of DFS, DSS and OS in relation to p53 status. Conclusion: The p53 overexpression was associated with histology, pathologic stage and smoking history in patients with pathologic stage I NSCLC. However, the p53 overexpression was not associated with patient's survival.

Sensitivity of Five Clones of Populus alba × P. glandulosa Cuttings to Ozone Exposure in Open-Top Chambers in Relation to Their Growth Rates (Open-Top chamber 내(內)에서 오존에 노출(露出)시킨 현사시 5개(個) 클론의 생장량(生長量)과 오존에 대(對)한 민감성(敏感性)과의 관계(關係))

  • Kim, Tae Kyu;Lee, Kyung Joon;Kim, Goon Bo;Koo, Yong Bon
    • Journal of Korean Society of Forest Science
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    • v.89 no.1
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    • pp.105-115
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    • 2000
  • This study was conducted to test a hypothesis that sensitivity of trees to ozone exposure was related to their growth rates. Two cultivars of Populus alba ${\times}$ P. glandulosa with different genetic growth potential were used for the comparison. Two clones(72-30, 72-16) of cultivar No. 4 with fast growing potential and three clones(71-28, 72-27, 72-19) of cultivar No. 2 with slow growing potential were propagated in early spring by cutting in $2-{\ell}$ plastic pots. They were grown outdoor for 5 months and exposed in late August for 30 days to 70 and 130ppb ozone in a open-top chambers(2.5m in diameter and 2m in height). Ozone concentration in a control chamber was maintained below 30ppb by filtering with activated charcoal. Each treatment was replicated twenty times. In a control chamber, cultivar No. 4 grew 73%, 64%, and 38% faster than cultivar No. 2 in leaf weight, root weight, and total dry weight, respectively. Visible injury was observed only in cultivar No. 4 in 130ppb treatment. Ozone treatment at both 70 and 130ppb decreased height growth, dry weight of leaf, root, and entire plants in all five clones. Particularly root growth was reduced by 39.7% and 13.8% in cultivar No. 4 and No. 2, respectively, in 70ppb treatment. Consequently, shoot/root ratio of cultivar No.4 was increased by 63.4%, while that of cultivar No.2 was increased by 22.1%. Stomatal conductance decreased more in cultivar No.4 than in cultivar No.2. Net photosynthesis of cultivar No.4 at 130ppb ozone decreased by 69.5%, while that of cultivar No.2 decreased by 31.5%. Above mentioned physiological responses of two cultivars to ozone strongly suggested that fast growing cultivar No.4 was more sensitive to ozone than slow growing cultivar No.2. It was concluded that sensitivity of trees to ozone exposure was closely related to their growth rates.

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A Study on DNA Polymorphism of the Bovine c-KIT Receptor Gene (소 c-KIT Receptor 유전자의 다형성에 관한 연구)

  • Jang, Y.S.;Kim, T.H.;Yoon, D.H.;Park, E.W.;Lee, H.W.;Lee, H.K.;Cheong, I.C.
    • Journal of Animal Science and Technology
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    • v.44 no.6
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    • pp.653-660
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    • 2002
  • We considered KIT gene as a candidate gene for the white-spotting pattern in cattle. This study was carried out to detect genetic variation of c-KIT receptor gene and to investigate association between the mutation and the white-spotting pattern in cattle. PCR-RFLP analysis within intron 6 of c-KIT receptor gene were performed with 8 cattle breeds including Hanwoo, Angus, Brown Swiss, Charolais, Hereford, Holstein, Limousin and Simmental. When PCR product of approximately 2,440 bp including intron 6 of c-KIT receptor gene was sequenced, four nucleotide substitutions were found within intron 6 of the bovine c-KIT receptor gene. In PCR-RFLP analysis, three alleles (A, B and C), two alleles (A and B) and two alleles (A and B) at each locus were identified by MspⅠ, BsrBⅠ and NdeⅠ, respectively. Although frequencies of allele at each locus were different among cattle breeds, we could not get any evidence related with white or white spotting phenotypes in these mutations on intron 6 of c-KIT receptor gene. However, we can not entirely exclude the possibility that c-KIT receptor gene is responsible for white spotting phenotype in cattle. Thus, further studies need to detect other mutations in c-KIT receptor gene and to test association of those mutations and coat color phenotypes in cattle.

Expression of Hypoxia-inducible Factor-1 $\alpha$ in Esophageal Squamous Cell Carcinoma: Relationship to Prognosis and Tumor Biomarkers (식도 편평세포암에시 Hypoxia-inducible Factor-1 $\alpha$의 발현: 예후와 종양표지자와의 상관성)

  • 양일종;김종인;이해영;천봉권;조성래
    • Journal of Chest Surgery
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    • v.37 no.8
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    • pp.691-701
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    • 2004
  • Background: Tissue hypoxia is a characteristic of many human malignant neoplasms, and hypoxia inducible factor-1 (HIF-1) plays a pivotal role in essential adaptive response to hypoxia, and activates a signal pathway for the expression of the hypoxia-regulated genes, resulting in increased oxygen delivery or facilitating metabolic adaptation to hypoxia. Increased level of HIF-1 a has been reported in many human malignancies, but in esophageal squamous cell carcinoma, the influence of HIF-1 a on tumor biology, including neovascularization, is not still defined. Material and Method: The influence of HIF-1 a expression on angiogenic factors, correlation between the tumor proliferation and HIF-1 a expression, interaction of HIF-1 a expression and p53, and correlation between HIF-1 a expression and clinicopathological prognostic parameters were investigated, using immunohistochemical stains for HIF-1 a, VEGF, CD34, p53, and Ki-67 on 77 cases of resected esophageal squamous cell carcinoma. Result: HIF-1 a expression in cancer cells was found in 33 of 77 esophageal squamous cell carcinoma cases. The 33 cases (42.9%) showed positive stain for HIF-1 a. High HIF-1 a expression was significantly associated with several pathological parameters, such as histologic grade (p=0.032), pathological TMN stage (p=0.002), the depth of tumor invasion (p=0.022), regional lymph node metastasis (p=0.002), distant metastasis (p=0.049), and lymphatic invasion (p=0.004). High HIF-1 a expression had significant VEGF immunoreactivity (p=0.008) and Ki-67 labeling index (p<0.001), but was not correlated with microvascular density within tumors (p=0.088). The high HIF-1 a expression was correlated with aberrant p53 accumulation with a marginal significance (p=0.056). The overall 5-year survival rate was 34.9%. The survival rate of patients with a high HIF-1 a expression was worse than that of patients with low-expression tumors (log-rank test, p=0.0001). High HIF-1 a expression was independent unfavorable factors although statistical significance is marginal in multivariate analysis. Conclusion: It is suggested that (1) high HIF-1 a expression in esophageal squamous cell carcinoma is associated with tumor hypoxia, or with genetic alteration in early carcinogenesis and progressive stages, (2) high HIF-1 a expression may be associated with intratumoral neovascularization through HIF-VEGF pathway, and (3) high HIF-1 a expression is associated with poor prognosis in patients with esophageal squamous cell carcinoma and may playa role as biomarker for regional lymph node metastasis.

Inheritance Study of Male Sterile Transformants Containing Pollen-specific Promoter and Diphtheria Toxin A Gene (수술특이프로모터와 디프테리아 독성 유전자에 의한 웅성불임 형질전환체의 후대 유전분석)

  • Park, Young-Doo;Kim, Hyun-Uk;Park, Beom-Seok;Jin, Yong-Moon
    • Horticultural Science & Technology
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    • v.18 no.3
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    • pp.342-347
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    • 2000
  • The objectives of this study were to investigate the genetic and phenotypic features of male sterile transformants by pollen-specific expression of diphtheria toxin gene and to find out inheritance patterns of transgene to the next generation. When backcrossed (BC) progenies were tested for expression of kanamycin resistance ($Km^R$), 9 lines out of 13 lines, except 4 lines ($BC_{1}5-13,\;BC_{1}5-23,\;BC_{1}5-28,\;BC_{1}5-32$), showed the ratio of $Km^R$ to kanamycin sensitive ($Km^S$), from 1:30 to all $Km^S$. As a result, they were much lower than Mendelian segregation of a dominant gene. To determine whether male sterility is a heritable and stable trait, 5 male sterile plants ($BC_{1}5-13,\;BC_{1}5-14,\;BC_{1}5-23,\;BC_{1}5-32,\;BC_{1}5-33$ lines) which had different transgene copy numbers were backcrossed as female parents with pollens from wild type. To confirm the existence of the DTx-A gene in the genome of the progenies, PCR was conducted using specific primers of the DTx-A coding region. A PCR band of 428 bp was obtained from each generation, which is the predicted size of the DTx-A gene fragment. Trangenes were inherited to the next $BC_4T_0$ progenies and showed male sterility, however, based on the copy numbers of DTx-A gene male sterile plants did not show predicted ratio. When male sterile plants were backcrossed with fertile plants, fruit capsule sizes and seed settings were relatively reduced from those of selfing wild type plants. The fruit sizes and seed settings were reduced in proportion to the increase in the copy number of DTx-A gene.

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The Test of Combining Ability and Heterosis on the Silkworm(Bombyx mori) Breeding (누에 견.사질에 관한 잡종강세 및 조합능력검정)

  • 문병원;한경수
    • Journal of Sericultural and Entomological Science
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    • v.36 no.1
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    • pp.8-25
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    • 1994
  • The study was conducted to obtain the genetic information on heterosis and combining ability of the quantitative characters for F1 hybrid breeding in silkworms. Six parental varieties and each set of 30 diallel crosses in F1's were used as materials, and bred on the randomized complete block design with three replications. Fourteen characters were observed with the twenty samples in each tray. The data were analyzed for (1) heterosis and combining ability in F1 hybrid. The heterosis in the weight and the length of cocoon showed positively high at 24.51%, and 23.4%, respectively and the weight of the whole cocoon as well as the weight of the whole cocoon layer showed a siginificant heterosis ranging from 15.56% to 15.71% and from 17.14% to 19.01%, but the fifth and the total instar period showed negative heterosis. It was found that the combination between, C70XRomogua and N9 X Romogua showed highly a negative heterosis on the fifth instar period and for the cocoon weight. The female of N9+Sansuian and the male of Romogua X Sansurian have a high heterosis effect, on the cocoon shell weight, and Sansurian X Romogua(reciprocal) on the length and the weight of cocoon filament with no regard to sexuality. The significant maternal and cytoplasmic effect on heterosis of the cocoon weight and the cocoon shell weight were observed with the combinations, N9 X C5, N63 X C70 and on the length of the cocoon filament with the combinations, Sansurian X N63, Sansurian X C5, Sansurian X C70 and N9 X C70, N63 X C70 on the weight of cocoon filament. As mean squared of GCA, SCA and RCA were significant with these combining ability for all characters resulted from additive and non-additive altogether and there is a significant difference between reciprocals. Sansurian showed a negative GCA effect on the fifth and total larval duration, but the higher positive GCA effects took places with varieties N9 and C5 on the length, width, weight of cocoon, cocoon shell weight, percentage of cocoon shell weight, length and weight of cocoon filament, percentage of raw-silk with no regard to both generations and silkworm sexuality. The values of SCA between the cross combinations varied generation-wise and sex-wise. It was shown that SCA value for the fifth instar period was highly negative for Sansurian X C70, Romogua X C70, Sansurian X C5, Romogua X C5, but it was positive effect on the cocoon weight, cocoon shell weight with N9 X C5, and C70 X Sansurian, on the length of cocoon filament with N9 X C5, Romogua X Sansurian on the weight of cocoon filament between Romogua and N63 and on the percentage of raw-silk between the combination of Sansurian X Romoga.

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Research of Statistical Model for Genetic Evaluation of Hanwoo Carcass Traits (한우 도체형질의 유전능력평가를 위한 통계모형 탐색)

  • Koo, Yang-Mo;Kim, Si-Dong;Kim, Jung-Il;Song, Chi-Eun;Lee, Ki-Hwan;Jeoung, Yeoung-Ho;Lee, Jae-Youn;Jang, Hyun-Gi;Park, Byoung-Ho;Choi, Te-Jong;Cho, Kwang-Hyun;Lee, Seung-Soo;Lee, Jung-Gyu;Kim, Hyo-Sun
    • Journal of Animal Science and Technology
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    • v.53 no.4
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    • pp.283-288
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    • 2011
  • This study was conducted to study the environment effects on live weight, carcass weight, dressing percentage, eye muscle area, backfat thickness, and marbling score, which are the carcass traits of Hanwoo, based on the estimates and all the possible regression for the selection of variable and significance test for 231,382 heads that underwent the carcass measurements. The average and standard deviation for the live weight, carcass weight, dressing percentage, eye muscle area, backfat thickness, and marbling score were 654.79${\pm}$91.61 kg, 362.30${\pm}$67.15 kg, 59.52${\pm}$0.03%, 81.79${\pm}$12.21 $cm^2$, 11.39${\pm}$5.40 mm, 4.38${\pm}$2.29, respectively. The live weight, carcass weight, dressing percentage, eye muscle area, backfat thickness, and marbling score for cow were 532.79${\pm}$78.38 kg, 313.40${\pm}$44.90 kg, 56.50${\pm}$0.03%, 75.24${\pm}$10.69 $cm^2$, 11.82${\pm}$5.10 mm, 4.30${\pm}$2.06, respectively, while for bull were 619.74${\pm}$93.27 kg, 376.89${\pm}$48.62 kg, 58.61${\pm}$0.02%, 85.61${\pm}$10.46 $cm^2$, 5.64${\pm}$2.71 mm, 1.41${\pm}$0.83, respectively, and for steer were 681.78${\pm}$70.72 kg, 415.23${\pm}$49.43 kg, 60.19${\pm}$0.02%, 88.29${\pm}$10.27 $cm^2$, 12.71${\pm}$5.23 mm, 5.42${\pm}$1.99, respectively. In the environmental variables selection based on the variables selection method, the examination by carcass traits suggested that the most appropriate model could be determined when five variables were selected for the live weight, carcass weight, dressing percentage, eye muscle area, and four variables for backfat thickness, and marbling score. When they were considered at a time altogether based on multiple traits, it was deemed to be desirable to insert all five variables into the variables for analysis. In addition, high significance was found by carcass traits.

Development of a Value Inquiry Model in Biology Education (생물교육에서의 가치 탐구 모형 개발)

  • Jeong, Eun-Young;Kim, Young-Soo
    • Journal of The Korean Association For Science Education
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    • v.20 no.4
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    • pp.582-598
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    • 2000
  • There are many bioethical issues in line with the rapid advance of biology. In this situation, it is important for students to make a rational decision on value problem. In this study 'value inquiry in biology education' is defined as 'the process of rational value judgement and wise decision-making in the biology-related value problem' and the model was developed. To develop the model, value inquiry models were reviewed. Value clarification model is helpful for the formation of the personal value as the process of individual value inquiry, but it isn't helpful for clarifying the value conflicts. Value analysis model focuses on the rational solution of value problem through the logical procedure. But it has the limitations that overemphasizing the logical and systematic aspects results in devaluating students' affective aspects. So it is necessary to coordinate psychological and logical aspects of value inquiry. In this regard, the model was developed, including identifying and clarifying value problem, understanding biological knowledge related to conflict situation, considering on the related persons, searching for alternatives, predicting the consequences of each alternative, selecting the alternative, evaluating the alternative, and final value judgement and affirming it. The educational objectives of value inquiry were selected in consideration of the ability to carry out the steps of the developed model. And the selected contents were animal duplication, test-tube baby, genetic engineering, growth hormone injection problem, brain death, organ transplant, animal to be experimented and were organized on the basis of the 6th and the 7th science curriculum. And the suitable instructional models for the value inquiry education were selected: bioethical value clarification decision-making model, group presentation according to the value analysis model, role play and debate, and discussion through web forum. And the interview was considered to be suitable to evaluate the students' value inquiry ability and the rubric was made to evaluate the attainment of the educational objectives for value inquiry.

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Noninvasive Prenatal Diagnosis using Cell-Free Fetal DNA in Maternal Plasma: Clinical Applications

  • Yang, Young-Ho;Han, Sung-Hee;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.1-16
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    • 2011
  • Owing to the risk of fetal loss associated with prenatal diagnostic procedures (amniocentesis, chorionic villus sampling), noninvasive prenatal diagnosis (NIPD) is ultimate goal of prenatal diagnosis. The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma in 1997 has opened up new probabilities for NIPD by Dr. Lo et al. The last decade has seen great development in NIPD. Fetal sex and fetal RhD status determination by cffDNA analysis is already in clinical use in certain countries. For routine use, this test is limited by the amount of cell-free maternal DNA in blood sample, the lack of universal fetal markers, and appropriate reference materials. To improve the accuracy of detection of fetal specific sequences in maternal plasma, internal positive controls to confirm to presence of fetal DNA should be analyzed. We have developed strategies for noninvasive determination of fetal gender, and fetal RhD genotyping using cffDNA in maternal plasma, using real-time quantitative polymerase chain reaction (RT-PCR) including RASSF1A epigenetic fetal DNA marker (gender-independent) as internal positive controls, which is to be first successful study of this kind in Korea. In our study, accurate detection of fetal gender through gestational age, and fetal RhD genotyping in RhD-negative pregnant women was achieved. In this assay, we show that the assay is sensitive, easy, fast, and reliable. These developments improve the reliability of the applications of circulating fetal DNA when used in clinical practice to manage sex-linked disorders (e.g., hemophilia, Duchenne muscular dystrophy), congenital adrenal hyperplasia (CAH), RhD incompatibility, and the other noninvasive pregnant diagnostic tests on the coming soon. The study was the first successful case in Korea using cffDNA in maternal plasma, which has created a new avenue for clinical applications of NIPD.

Expression of Human Leukocyte Antigen DQB1*0602 in Korean Patients with Narcolepsy (한국인 기면병 환자의 Human Leukocyte Antigen(HLA) DQB1*0602 발현 빈도)

  • Hong, Seung-Chul;Woo, Young-Sub;Park, Soo-A;Jeong, Jong-Hyun;Han, Jin-Hee;Kim, Leen;Lee, Sung-Pil
    • Sleep Medicine and Psychophysiology
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    • v.8 no.2
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    • pp.107-112
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    • 2001
  • Introduction: Narcolepsy, a sleep disorder characterized by excessive daytime sleepiness and cataplexy, is known to be closely associated with the human leukocyte antigen (HLA) DQB1*0602. Several studies have suggested that HLA-DQB1*0602 is strongly linked with narcolepsy-cataplexy. However, no studies have yet been made on whether HLA DQB1*0602 is associated with Korean patients with narcolepsy. This study was designed to investigate the frequency of HLA-DQB1*0602 of Korean patients with narcolepsy. Methods: Twenty patients were selected (mean age: $28.2{\pm}3.0$, 11 men and 9 women). The patients were confirmed to have narcolepsy by the overnight polysomnography and multiple sleep latency test (MSLT) in addition to their clinical history and symptoms at St. Vincent's Hospital and Korea University Hospital Sleep Disorders Clinic. Any subjects co-morbid with other hypersomnic sleep disorders such as sleep apnea or periodic limb movements during sleep were excluded. Clinical data was collected through a semi-structured interview for narcoleptic patients. All patients and 21 control did HLA typing for the presence of DQB1*0602. Results Obtained were as Follows: 1) Mean sleep latency was 2.4 (${\pm}2.0$ minutes) and mean frequency of sleep-onset REM period was 3.0 (${\pm}1.6$) by MSLT. 2) Characteristic symptoms of narcolepsy investigated were as follows: excessive daytime sleepiness (100%), cataplexy (100%), sleep paralysis (60%), hypnagogic hallucination (70%) and disrupted nocturnal sleep (75%). 3) Strong emotional expression such as laughing (80%) and joking (70%) triggered cataplexy which affects the knee and leg region (80%) and jaw region (30%). 4) HLA-DR2 was found in 90% of patients and 35% in controls. The frequency of HLA-DQB1*0602 in patients and controls was 90%, and 24%, respectively. Conclusions: These results, which exhibit high HLA-DQB1*0602 expression in Korean patients with narcolepsy, suggest that HLADQB1*0602 could be a strong genetic marker in narcolepsy.

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