• 제목/요약/키워드: GENETIC RELATIONSHIP

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5-HTTLPR과 COMT 유전자 다형성과 성격 특성에 대한 연합연구 (An Association Study of the 5-HTTLPR and COMT Genes Polymorphisms and Personality Traits)

  • 하지현;함병주;류성곤;황태연;이종국;이유상;이정식;강대엽;최인근;이민수
    • 생물정신의학
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    • 제11권2호
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    • pp.88-93
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    • 2004
  • Background:Serotonin transporter gene-linked polymorphism region(5-HTTLPR) and catechol-O-methyltransferase( COMT) genes are thought to be important factors in some personality traits and the etiology of anxiety disorder. The goal of this study was to determine the role of these genes in personality traits. Method:The participants included 116 healthy adults with no history of psychiatric disorders and other physical illness for the last 6 months. All participants were tested by Temperament and Character Inventory(TCI). The 5-HTTLPR, COMT val158met gene polymorphisms were analyzed with PCR(Polymerase Chain Reaction). Differences on TCI dimensions and sub-scales among groups were examined with t-test and ANOVA. Result:There were possible relationships of the 5-HTTLPR with self-transcendence(P=0.050) and COMT val158met polymorphism with cooperativeness(P=0.053). Conclusion:We found associations between 5-HTTLPR, COMT polymorphisms and the some TCI character dimensions. Further studies of polymorphisms of other genes and their interactions may clarify the complex relationship between personality and genes.

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CYP2D6 P34S Polymorphism and Mirtazapine Responses in Koreans with Major Depression

  • Jeon, Si-On;Chang, Hun-Soo;Lee, Hwa-Young;Ham, Byung-Joo;Kang, Rhee-Hun;Jeong, Yoo-Jung;Lee, Min-Soo
    • Molecular & Cellular Toxicology
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    • 제5권4호
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    • pp.346-353
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    • 2009
  • Drug metabolism is a critical determinant of the therapeutic and adverse effects of many psychotropic drugs. The metabolism depends on the pharmacokinetics of a drug, which includes its absorption, distribution, and elimination. Psychotropic drugs are metabolized mainly by cytochrome P450 (CYP) enzymes; about 20 of these enzymes exist and they are often responsible for the rate-limiting step of drug metabolism. CYP2D6 is the best-characterized P450 enzyme that exhibits polymorphism in humans. This study determined the relationship between the CYP2D6*10 (P34S) polymorphism and the response to mirtazapine in 153 Koreans with major depressive disorder (MDD). The genotype frequencies were compared using logistic regression analysis, and between-genotype differences in the decrease in the 21-item Hamilton Depression (HAMD21) score over the 12-week treatment period were analyzed using a linear regression analysis. The proportion of remitters was lower in patients with MDD possessing the S allele than in P allele carriers after 2 weeks of mirtazapine treatment. Similarly, the reductions in the HAMD21 and Clinical Global Impression (CGI) scores in S allele carriers were smaller than those in patients with the P allele after 2 weeks of mirtazapine treatment. In the analysis of depression symptoms, the sleep and delusion scores had smaller reductions in S allele carriers. Based on the Liverpool University Neuroleptic Side Effect Rating Scale (LUNSERS), the psychic adverse effects of mirtazapine were associated with CYP2D6 P34S, while weight gain was not. These results suggest that CYP2D6 P34S affects the outcome of mirtazapine treatment in patients with MDD, and that this polymorphism may be a good genetic marker for predicting the clinical outcome of mirtazapine treatment.

Mannose-binding lectin의 선천성 면역과 질병에 대한 역할 (Roles of Mannose-Binding Lectin on Innate Immunity and Disease)

  • 장호정;박정혜;정경태
    • 생명과학회지
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    • 제20권9호
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    • pp.1420-1425
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    • 2010
  • 선천성 면역이란 감염성 질환에 대응하는 분자들의 네트워크가 반응하는 숙주의 첫 번째 방어 메카니즘이다. 간에서 만들어져 혈액에 존재하는 Mannose-binding lectin (MBL)은 선천성 면역에 관여하는 단백질군인 collectin에 속하는 분자로서 감염성 질병을 유발하는 다양한 세균, 바이러스, 효모, 곰팡이 및 원생동물의 표면에 존재하는 특징적인 당쇄를 인식한다. 이런 감염성 인자들의 표면에 드러난 당쇄의 공통적인 패턴을 MBL이 인식하여 자기(self)와 비자기(non-self)를 구분하기 때문에 MBL을 패턴 인식 분자(pattern recognition molecule)라고 한다. MBL은 MBL2 유전자에 의해 만들어지며, MBL2 유전형은 여러 가지 다형성(polymorphisms)이 있는 것으로 나타났다. MBL2 유전자의 변이는 상당히 많은 사람에서 나타나며, MBL 결여의 원인이다. MBL 결여는 감염성 질환에 대한 감수성을 증가시키므로, MBL의 유전적 변이와 임상적 중요성에 대해 많은 연구가 진행 되어져 왔다. 이 총설은 현재 우리가 알고 있는 MBL의 구조와 기능에 대해 전반적으로 논의하고자 한다.

A study on the patterns of expression of the DAZ and HSP genes in the testicular tissue of men with azoospermia

  • Lee, Ho-Joon;Lee, Hyoung-Song;Song, Gyun-Jee;Byun, Hye-Kyung;Cho, Youl-Hee;Kim, Jong-Hyun;Seo, Ju-Tae;Lee, Yoo-Sik
    • Journal of Genetic Medicine
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    • 제1권1호
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    • pp.51-56
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    • 1997
  • Spermatogenesis is known to be regulated by a number of genes and several factors such as hormones, growth factors, cytokines and others. This study was done to evaluate the relationship between HSPs and DAZ genes in human spermatogenesis; we observed the expression pattern of HSP gene in azoospermia men with DAZ gene that regulated the gene expression related with human spermatogenesis. RT-PCR method was used to detect DAZ, HSP70A, and HSP70B transcripts in all RNA samples. Total RNA was extracted from 21 testis tissues using TRIZOL reagent. cDNAs were synthesized with reverse transcriptase, AMV. All PCR reaction were performed on a PCR themocycler with DAZ, HSP70A, and HSP70B-specific primers. Semen analysis, karyotyping and testis histology were performed. DAZ gene, known as a candidate gene of azoospermia factor(AZF), was deleted in 2 of 21 patients. To evaluate the only effects of HSPs in this patients, 2 DAZ deleted cases were removed. We observed the mRNA of HSP70B in 5 whereas none could be seen with regard to HSP70A. Furthermore, the sperm of these 5 men were discovered to be immature. In conclusion, HSP70B as well ad DAZ gene seem to be involved causing spermatogenic failure. We suggest that HSP70B plays an important role in spermatogenesis and it is one of factors induced sperm maturation in human.

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청원군 일개 면에서 산발적으로 신고한 세균성이질 집단 발병 역학조사 (Epidemiologic Investigation on Sporadic Occurrence of Shigellosis in a Subcounty of Cheongwon County in Chungbuk Province in 2003)

  • 이용제;황의경;김종숙;김준영;이복권;구자설;강종원
    • Journal of Preventive Medicine and Public Health
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    • 제38권2호
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    • pp.182-188
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    • 2005
  • Objectives: This study was undertaken to investigate the source of infection and mode of transmission of shigellosis, which occurred sporadically among residents and students in a subcounty of Cheongwon county, Chungbuk province, Korea, from June 4 to July 3 2003. Methods: 692 subjects completed a questionnaire and provided a swab for microbiological examinations,and 7 environmental specimens were examined for bacterial organisms. PFGE (pulsed-field gel electrophoresis) and fingerprinting were performed to find the genetic relationship among the temporally associated sporadic isolates. Results: A total of 29 patients had symptoms consistent with the case definition, with 13 confirmed and 16 suspected cases. The frequency of diarrhea was 6 times or more a day (80.8%), with a duration of 1 to 4 days (88.5%) in most cases. The most common symptoms accompanying the diarrhea were fever (80.9%) followed by abdominal pain (76.9%), headache (65.4%), chill (61.5%), vomiting (46.2%) and tenesmus (15.4%). The epidemic curve was characteristic of a person-to-person transmission. The PFGE and fingerprinting demonstrated identical or similar DNA patterns among the 3 Shigella sonnei isolates (A51, A53 and A61 types) found in this outbreak. Conclusion: A genetically identical strain of S. sonnei was estimated to be the cause of this outbreak, and the mode of transmission was most likely person-to-person.

Phylogeny of Korean Isolates of Phytophthora Species Based on Sequence Analysis of Internal Transcribed Spacer of Ribosomal DNA

  • Hong, Seung-Beom;Jee, Hyeong-Jin;Kim, Sang-Hee;Go, Seung-Joo
    • The Plant Pathology Journal
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    • 제16권1호
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    • pp.29-35
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    • 2000
  • The internal transcribed spacer regions (ITS I, 5.8S and ITS II) of the ribosomal DNAs were amplified from Korean isolates of Phytophthora spp. and sequenced to characterize them. Sequences from 33 isolates previously identified as P. boehmeriae, P. cactprum, P. cambivora, P. capsici, P. cinnamomi, P. erythroseptica, P. infestans, P. megasperma, P. melonis, P. nicotianae, P. palmivora and P. sojae were compared with published sequences, and a phylogenetic tree was produced. All isolates belonging to 10 species, P. cactorum, P. cambivora, P. capsici, P. cinnamomi P. citricola, P. infestans, P. nicotianae, P. palmivora and P. sojae were clearly clustered into published isolates of each species above 97% bootstrap value. Cucurbits isolates of Phytophthora previously identified as either P. melonis or P. drechsleri showed distinct evolutionary lineages from the P. megasperma was closely related to isolates of P. cryptogea-P. drechsleri showed distinct evolutionary lineages from the P. cryptogea-P. drechsleri complex group, indicating that P. melonis is a valid species. A Korean isolate of P. megasperma was closely related to isolates of P. erythroseptica showed distant genetic relationship with published isolates of P. erythroseptica (CBS 956.87). It is probable that the two Korean isolates could be genetically different from foreign isolates or misidentified. A grouping of species according to ITS sequence divergence matched, to some degree, the broad classification based on type of papilla. However, a separation of semi-papillate species and papillate species was not wvident in this study.

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Polymorphisms in the Thymidylate Synthase Gene and Risk of Colorectal Cancer

  • Gao, Chang-Ming;Ding, Jian-Hua;Li, Su-Ping;Liu, Yan-Ting;Cao, Hai-Xia;Wu, Jian-Zhong;Tajima, Kazuo
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권8호
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    • pp.4087-4091
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    • 2012
  • To evaluate the relationship between polymorphisms (28 bp repeated sequences in 5'-UTR and 6-bp ins/del in 3'-UTR) in then thymidylate synthetase gene (TS) and risk of colorectal, colon and rectal cancers, we conducted a case-control study with 315 cases of colorectal cancer and 439 population-based controls in Jiangsu province, China. TS genotypes were identified using PCR.RFLP (restriction fragment length polymorphism) methods. Odds ratios (ORs) were estimated with an unconditional logistic regression model. We found that the distributions of 5'-UTR genotypes in TS were significantly different between controls and male colon cases (${\chi}^2$=8.25, P = 0.016). Compared with 3R/3R genotype, individuals with the 2R allele were at an increased risk of colon cancer (age-, BMI-, smoking- and alcohol drinking-adjusted OR=1.98, 95%CI: 1.11-3.53) among men. In ccontrast, the 6-bp ins/del polymorphism at the TS 3'- UTR did not influence risk of the colorectal, colon and rectal cancers. When combined genotypes for both TS 5'-UTR and 3'-UTR polymorphisms were evaluated, individuals with the 5'-UTR 2R allele had a OR of 3.61 (95%CI: 1.38-9.49) for colon cancer among men with the 3'-UTR .6bp/-6bp genotype. These results show that the polymorphism of the 28 bp repeated sequences in TS 5'-UTR could influence susceptibility to colon cancer and that there was a coordinated effect between TS 3'-UTR and 5'-UTR polymorphisms in increasing risk of colon cancer among Chinese men.

모발에 대한 동서의학적 고찰 (The Study about the Comparison of Korean-Western Medicine on Hair)

  • 장인욱;고우신;윤화정
    • 한방안이비인후피부과학회지
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    • 제29권4호
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    • pp.1-13
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    • 2016
  • Objectives : The purpose of this study is to compare hair and alopecia of Korean Medicine with those of western medicine. Methods : We studied relationships between hair and essense(精), qi(氣), blood(血), five vicera(五臟) and meridians(經絡) through literature review about hair and alopecia. We compared Korean medicine with western medicine on physiology of hair and treatment of alopecia based on the study. Results & Conclusion : 1. Congenital essense(先天之精) is related with genetic factor and acquired essence(後天之精) is connected with nutritional factor. Defending function of Defense qi(衛氣) is related with immune reaction and qi stagnation(氣鬱) is associated with stress reaction. Atrophy of vascular tissues observed in alopecia scalp means deep relationship between blood(血) and alopecia, further deficiency of blood can cause telogen effluvium. 2. Kidney qi(腎氣) is related with inhibiting combination of Androgen receptor and Dihydrotestosterone(DHT) or activating hair growth factior. Pi(脾) is connected with alopecia seborrheica caused by damp-heat(濕熱) and alopecia areata caused by excessive prudence(思慮過度). Heart(心) is associated with atrophy in vascular tissue of scalp and liver(肝) is connected with metabolism. 3. Armpit hair and pubic hair as secondary sex characteristics are realated with Yangming Meridian(陽明經) and beard and hair at crown part where Type II $5{\alpha}$-reductase is activated much are associated with Taiyang Meridian(太陽經). 4. Juglandis Semen pharmacopuncture and Ganoderma lucidum pharmacopucture have better effects on inhibit $5{\alpha}$-reductase than Finasteride. Minoxidil and PRP are similar with promoting blood flow and removing stasis(活血祛瘀). Seven-star needling(七星針) is similar with microneedling. 5. Alopecia can be caused by due to lack of circulation Views we need solution to improve circulation coincide in opinion with Korean Medicine and Western medicine.

Genetic analysis of photoblastism and mesocotyl elongation

  • Lee, Hyun-Sook;Kang, Ju-Won;Jeon, Yun-A;Ahn, Sang-Nag
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.26-26
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    • 2017
  • Seed germination stimulated by light is said to be photoblastism. Photoblastism has not been reported in cereal crops, especially in the rice, but Korean weedy rice was reported to have photoblastism and longer mesocotyl than cultivar. Photoblastic weedy rice (PBR) was used to identify QTLs for photoblastism and mesocotyl length. In previous works, QTLs for photoblastism, pbr1 and pbr12 were identified on chromosomes 1 and 12 using 124 F4 lines from a cross between Ilpum and PBR using bulked segregant analysis. Two QTLs for mesocotyl elongation, qMel-1 and qMel-3 were mapped on chromosomes 1 and 3 120 F8 lines from the same cross. Of interest, the RM8260-RM246 region of pbr1 overlapped with a region of qMel-1. To know whether these two QTLs are functionally related, 110 F3 lines were developed from a cross between Ilpum and CR7124. CR7124 having photoblastism and long mesocotyl was selected from 120 F8 lines. 95 F3 lines were measured for germination rate in a light and dark condition and mesocotyl length. Mesocotyl length and germination rate in the dark condition in F3 lines showed significant correlation (r = 0.7, P < 0.0001). 95 $F_3$ lines were genotyped with RM7419 on chromosome 1. ANOVA showed that RM7419 was tightly linked to QTLs for photoblastism as well as mesocotyl length on chromosome 1 (P < 0.0001) indicating the tight linkage of two QTLs. Fine mapping of the two QTL is underway to analyze their functional relationship.

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PCR 방법을 이용한 우유 및 유제품에서 발생하는 식중독 균의 신속 검출법 (Rapid Detection Methods for Food-Borne Pathogens in Dairy Products by Polymerase Chain Reaction)

  • 곽혜림;한선경;김이슬;홍연;김해영
    • Journal of Dairy Science and Biotechnology
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    • 제31권2호
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    • pp.171-177
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    • 2013
  • The dairy industry has consistently grown via the expansion of dairy-based food categories. Dairy product consumption is stable since the nutrient composition in dairy products is ideal for human health. However, dairy products are highly susceptible to food-borne pathogens. Controlling the safety of dairy products is thus important when considering the nutrient-rich matrix of this food category. Currently, immunoassays or molecular biology techniques have been used to evaluate the safety of dairy products in Korea. These methods are based on the detection of proteins and thus have low reproducibility and sensitivity. Recent techniques to detect food-borne pathogens have focused on genetic analyses. Rapid detection methods for food-borne pathogens in milk and dairy products using polymerase chain reaction (PCR) techniques, such as conventional PCR, real-time PCR, repetitive sequence-based (rep)-PCR, PCR-denaturing gradient gel electrophoresis (DGGE), and digital PCR, are reviewed in this article. The aim of this review was to contribute knowledge of the relationship between microflora and the quality of dairy products. This study will also assist in the immediate monitoring of food-borne pathogens in milk and dairy products when an outbreak related to this food category occurs.

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