• 제목/요약/키워드: genetic susceptibility

검색결과 489건 처리시간 0.027초

Identification of a Novel Cassette Array in Integron-bearing Helicobacter Pylori Strains Isolated from Iranian Patients

  • Goudarzi, Mehdi;Seyedjavadi, Sima Sadat;Fazeli, Maryam;Roshani, Maryam;Azad, Mehdi;Heidary, Mohsen;Navidinia, Masoumeh;Goudarzi, Hossein
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권7호
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    • pp.3309-3315
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    • 2016
  • Helicobacter pylori as the second most common cause of gastric cancer in the world infects approximately half of the developed countries population and 80% of the population living in developing countries. Integrons as genetic reservoirs play major roles in dissemination of antimicrobial resistance genes. To the best of our knowledge, this is the first study to report carriage of class 1 and 2 integrons and associated gene cassettes in H. pylori isolates from Iran. This cross-sectional study was conducted in Tehran among 110 patients with H. pylori infection. Antimicrobial susceptibility testing (AST) for H. pylori strains were assessed by the micro broth dilution method. Class 1 and 2 integrons were detected using PCR. In order to determine gene cassettes, amplified fragments were subjected to DNA sequencing of both amplicon strands. The prevalence of resistance to clarithromycin, metronidazole, clarithromycin, tetracycline, amoxicillin, rifampin, and levofloxacin were 68.2% (n=75), 25.5% (n=28), 24.5% (n=27), 19.1% (n=21), 18.2% (n=20) and 16.4% (n=18), respectively. Frequency of multidrug resistance among H. pylori isolates was 12.7%. Class 2 integron was detected in 50 (45.5%) and class 1 integron in 10 (9.1%) H. pylori isolates. The most predominant gene cassette arrays in class 2 integron-bearing H. pylori were included sat-era-aadA1, dfrA1-sat2-aadA1, blaoxa2 and, aadB whereas common gene cassette arrays in class 1 integron were aadB-aadA1-cmlA6, aacA4, blaoxa2, and catB3. The high frequency of class 2 integron and multidrug resistance in the present study should be considered as a warning for clinicians that continuous surveillance is necessary to prevent the further spread of resistant isolates.

Roles of CYP1A1 and CYP2E1 Gene Polymorphisms in Oral Submucous Fibrosis

  • Yaming, Punyo;Urs, Aadithya Basavaraj;Saxena, Alpana;Zuberi, Mariyam
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권7호
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    • pp.3335-3340
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    • 2016
  • Background: Oral submucous fibrosis (OSF) is a precancerous condition with a 4 to13% malignant transformation rate. Related to the habit of areca nut chewing it is mainly prevalent in South-east Asian countries where the habit of betel quid chewing is frequently practised. On chewing, alkaloids and polyphenols are released which undergo nitrosation and give rise to N-nitrosamines which are cytotoxic agents. CYP450 is a microsomal enzyme group which metabolizes various endogenous and exogenous chemicals including those released by areca nut chewing. CYP1A1 plays a central role in metabolic activation of these xenobiotics, whereas CYP2E1 metabolizes nitrosamines and tannins. Polymorphisms in genes that code for these enzymes may alter their expression or function and may therefore affect an individuals susceptibility regarding OSF and oral cancer. The present study was therefore undertaken to investigate the association of polymorphisms in CYP1A1 m2 and CYP2E1 (RsaI/PstI) sites with risk of OSF among areca nut chewers in the Northern India population. A total of 95 histopathologically confirmed cases of OSF with history of areca nut chewing not less than 1 year and 80, age and sex matched controls without any clinical signs and symptoms of OSF with areca nut chewing habit not less than 1 year were enrolled. DNA was extracted from peripheral blood samples and polymorphisms were analyzed by PCR-RFLP method. Gene polymorphism of CYP1A1 at NcoI site was observed to be significantly higher (p = 0.016) in cases of OSF when compared to controls. Association of CYP1A1 gene polymorphism at NcoI site and the risk of OSF (Odd's Ratio = 2.275) was also observed to be significant. However, no such association was observed for the CYP2E1 gene polymorphism (Odd's Ratio = 0.815). Our results suggest that the CYP1A1 gene polymorphism at the NcoI site confers an increased risk for OSF.

Agrobacterium Binary Vector에 의한 포플러 형질전환(形質轉換)을 위한 기초연구(基礎研究) (Transformation of Populus Species by an Agrobacterium Binary Vector System)

  • 전영우
    • 한국산림과학회지
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    • 제77권2호
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    • pp.199-207
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    • 1988
  • 포플러류(類)에 대(對)한 유용유전자(有用遺傳子) 삽입에 관(關)한 기초(基礎) 연구(研究)로서, 북미(北美)의 자연잡종(自然雜種) 포플러, P. alba ${\times}$ P. grandidentata 3 클론을 대상으로 Agrobacterium tumefaciens A281과 A348 strain의 감염력을 조사(調査)하였다. Kanamycin 저항성(低抗性)의 neomycin phosphotransferase (NPT-II) 유전자(遺傳子)를 가진 Agrobacterium binary pGA 472 vector와 이들 조직배양(組織培養)된 세 클론의 잎조각을 함께 배양(培養)하여, 형질전환(形質轉換)된 부위(部位)를 선발(選拔)하기 위해서 kanamycin sulfate의 적정농도(適正濃度)를 조사(調査)하였다. A281과 A348 strain 중(中) A281 strain이 가지고 있는 pTiBo542가 binary vector system의 helper plasmid로서의 역할에 가장 적합한 것으로 나타났다. 비교적 저농도(低濃度)(10mg/l)의 kanamycin sulfate가 잎조각배양으로 부터 식물체(植物體) 유도를 억제하였다. Kanamycin 저항성(低抗性) 유전자(遺傳子)가 내포된 Agrobacterium binary vector와 잎조각을 함께 배양(培養)한 후(後) kanamycin에 대한 저항성(低抗性)을 가진 callus가 kanamycin(60mg/l)이 들어있는 식물체 유도배지에서 선발(選拔)되었다. Kanamycin 저항성(低抗性) 유전자(遺傳子)에 의해 형질전환된 이들 kanamycin 저항성(低抗性) callus와 정상적인 비교 callus를 kanamycin이 들어있는 식물체(植物體) 유도배지에서 배양(培養)했을때 정상적인 비교 callus는 50mg/l의 kanamycin 농도(濃度)에서 생장(生長)이 억제된 반면, 형질전환(形質轉換)된 kanamycin 저항성(低抗性) callus는 200mg/l의 kanamycin 농도(濃度)에서도 생장(生長)을 계속하였다.

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The role of polymorphisms associated with early tooth eruption in dental and occlusal traits in East Asian populations

  • Yamaguchi, Tetsutaro;Kawaguchi, Akira;Kim, Yong-Il;Haga, Shugo;Katayama, Koshu;Ishida, Hajime;Park, Soo-Byung;Maki, Koutaro;Kimura, Ryosuke
    • 대한치과교정학회지
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    • 제44권2호
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    • pp.96-102
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    • 2014
  • Objective: A recent study suggested that rs6504340, a polymorphism within the homeobox B (HOXB) gene cluster, is associated with the susceptibility for malocclusions in Europeans. The resulting malocclusions require orthodontic treatment. The aim of this study was to investigate the association of rs6504340 and other dentition-implicated polymorphisms with dental and occlusal traits in Korean and Japanese populations. Methods: The study participants included 223 unrelated Koreans from the Busan area and 256 unrelated Japanese individuals from the Tokyo metropolitan area. DNA samples were extracted from saliva specimens. Genotyping for rs6504340 and four single nucleotide polymorphisms (SNPs) that have been shown to be associated with the timing of first tooth eruption and the number of teeth at 1 year of age (rs10506525, rs1956529, rs9674544, and rs8079702) was performed using TaqMan assays. The Index of Orthodontic Treatment Need (IOTN), overjet, overbite, arch length discrepancy, crown sizes, and length and width of the dental arches were measured. Spearman's correlation coefficients were calculated to evaluate relationships between rs6504340 and these dental/occlusal traits. Results: We evaluated the aesthetic components and dental health components of the IOTN in the Korean and Japanese populations and found that neither rs6504340 nor the other four SNPs showed any association with dental and occlusal traits in these East Asian populations. Conclusions: These negative results suggest that further research is needed to identify the genetic determinants of malocclusions in order to reach a consensus.

해역 건강도 평가를 위한 다매체 바이오마커 적용 (Application on Multi-biomarker Assessment in Environmental Health Status Monitoring of Coastal System)

  • 정지현;류태권;이택견
    • Ocean and Polar Research
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    • 제30권1호
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    • pp.109-117
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    • 2008
  • 해양환경 건강성 평가에서 바이오마커의 적용은 상대적으로 새로운 분야이다. 국립학술원 및 세계보건기구에 따르면 바이오마커는 노출바이오마커, 영향바이오마커 및 민감바이오마커 등 3가지로 나누어진다. 해양생태계에 대한 환경오염물질의 노출 및 영향을 평가하기 위하여 다음과 같은 바이오마커들이 시험되고 있다: 해독, 산화스트레스, 분해산물, 스트레스 반응, 세포사멸, 물질대사, 신경반응, 생식, 스테로이드 호르몬, 항산화물질, 유전적 변형. 1990년대 초부터 여러 바이오마커 연구그룹들은 해양생물의 건강지수를 개발하여 해양환경의 상태를 평가하기 위한 수단으로 활용해 왔다. 바이오마커 지수는 생물학적 효과에 대한 모니터링활동으로부터 얻어진 자료의 해석에 사용될 수 있다. 본 총설에서는 이제까지 보고된 바이오마커 지수 관련 연구 중 대표적인 건강평가지수(Health assessment Index), 바이오마커 지수(Biomarker Index), 생물영향평가지수(Bioeffect Assessment Index) 및 일반화된 선형모델(Generalized Linear Model) 등의 연구를 요약하였다. 오염된 지역에 서식하는 해양생물의 바이오마커 반응 측정 및 바이오마커 지수 개발은 다양한 측면의 해양생태계 위해성 평가를 위해 고안된 환경모니터링 프로그램에 공헌할 수 있는 정보를 제공해 줄 수 있을 것이다.

간 질환력과 원발성 간암에 관한 환자-대조군 연구 (A Case-Control Study of Primary Liver Cancer and Liver Disease History)

  • 김동현;박병주;유근영;안윤옥;이효석;김정룡;이상일;이무송;안형식;김헌;박태수
    • Journal of Preventive Medicine and Public Health
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    • 제27권2호
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    • pp.217-225
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    • 1994
  • The relationship between past liver disease history and the risk of primary liver cancer was analyzed in a hospital-based case-control study conducted in Seoul on 165 patients with histologically or serologically confirmed hepatocellular carcinoma and individually age- and sex-matched 165 controls in hospital for ophthalmologic, otologic, or nasopharyngeal problems. Significant association were observed for liver deseases occurring 5 or more years before liver cancer diagnosis [OR,4.9;95% confidence interval (CI), $1.6{\sim}14.0$) and family history of liver disease(OR, 9.0;95% CI, $2.1{\sim}38.8$). These associations were not appreciably modified by allowance for major identified potential confounding factors. From these results, it is possible to speculate that liver cell injuries caused by various factors might be a common pathway to developing primary liver carcinoma. Considering the significant effect of family history of liver diseases on PLCA risk after adjusting past liver disease history, there might be genetic susceptibility in the carcinogenic mechanism of liver cancer. Further investigations are needed to clarify the effect of family history of liver disease on PLCA risk.

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들깨 종자 활력 수준별 초저온 동결보존 후 발아율 및 Ascorbate Peroxidase 활성 변화 (Response of Germination Rate and Ascorbate Peroxidase Activity to Cryopreservation of Perilla (Perilla frutescens) Seeds with Variable Initial Viabilities)

  • 이영이;이명희;이정윤;이태윤;손은호;박홍재
    • 한국환경농학회지
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    • 제36권4호
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    • pp.256-262
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    • 2017
  • 식물 종자를 비롯한 각종 유전자원을 액체질소에 저장하면 유전형질 특성의 손실 없이 장기간 보존할 수 있다. 본 연구에서 보존조건이 까다로워 단명 종자로 분류되는 들깨 종자를 초저온 동결저장 방법으로 보존할 수 있는지를 조사하였다. 수집한 들깨 품종별 종자의 초기 발아율은 40-95% 수준으로 다양하였는데, 수분함량을 3-8%로 조절한 종자를 액체질소에 처리하여도 발아율은 감소하지 않았다. 종자의 수분함량이 4-5%인 종자의 초저온 처리 후 발아율이 가장 높았으며, 초기 발아율이 낮은 품종에서는 초저온 처리에 의해 발아율이 증가하기도 했다. 인위 노화처리에 따라 종자의 발아율과 ascorbate peroxidase 활성은 감소하였으며, 품종별로 종자의 활력 저하 정도는 크게 달리 나타났다. 대조 처리 종자와 비교하였을 때, 초저온 처리과정에 발생할 수 있는 산화스트레스가 들깨 종자의 활력을 저해하지는 않을 것으로 추정되었다. 따라서 들깨 종자를 4-5% 수분함량으로 건조시켜 초저온 동결 저장하면 활력 손실 없이 장기간 보존할 수 있을 것으로 판단되며, 노화가 급속히 진행되는 품종의 경우에는 고활력 자원을 확보하거나 휴면타파 처리 후 초저온 동결 보존하는 것이 유리할 것으로 생각된다.

Gene-gene interaction in cerebral infarction patients: Relationship between apolipopreotein E gene polymorphism and Sasang-constitution

  • Um, Jae-Young;Kim, Jong-Kwan;Joo, Jong-Cheon;Kim, Kyung-Yo;Hong, Seung-Heon;Kim, Hyung-Min
    • Advances in Traditional Medicine
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    • 제4권2호
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    • pp.104-111
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    • 2004
  • Sasang Constitutional Medicine is a major branch of Korean Traditional Oriental Medicine. The differences of disease susceptibility to be shown in Sasang constitution may be due to genetic factors. Therefore, we examined interrelationship among cerebral infarction (CI), apolipoprotein E (apoE) gene polymorphism, and Sasang constitutional classification. ApoE is a key protein modulating the highly atherogenic apoB containing lipoproteins and is a candidate gene for the development of coronary artery disease (CAD). The ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles were the first to be implicated in premature CAD, which resulted in this polymorphism being extensively studied. We investigated the association between apoE genotype and CI by case-control study in a Korean population. We also classified CI patients and control group into groups according to Sasang Constitutional Medicine. 196 CI patients and 379 controls without CI were examined. ApoE genotype was determined by 8% polyacrylamide gel separation after DNA amplification. A significant difference in the apoE genotype distribution was observed in the CI patients compared with that in controls ($X^{2}$=14.920, df=4, P=0.005). Also, the frequency of Taeumin constitution in patients with CI was significantly higher than that in controls (58.0% vs. 36.9%; P<0.001). However, the Taeumin constitution did not enhance the relative risk for CI in the subjects with apoE ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles. No differences in the apoE genotypes frequencies were observed in the Taeumin compared with that in the other constitutions. In addition, we investigated whether the DD genotype of angiotensin converting enzyme (ACE) gene, a candidate gene for CI, was associated with CI, Taeumin constitution, and apoE polymorphism. As a result, the frequency of Taeumin constitution was significantly higher in CI patients with both apoE ${\varepsilon}3/{\varepsilon}4$ and ACE ID/DD genotypes than in the remaining Sasang constitutions (14.5% vs. 8.3% and 0%) ($X^{2}$=13.521, df=6, P=0.035). In summary, we concluded that the apoE polymorphism is a major risk factor for CI in Koreans and the ACE ID/DD genotype enhanced the relative risk for CI in the subjects with apoE ${\varepsilon}3/{\varepsilon}4$ genotype and Taeumin constitution.

건강증진과 삶의 질 구조모형 II-암환자 중심- (A Structural Model for Health Promotion and Quality of Life in People with Cancer)

  • 오복자
    • 대한간호학회지
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    • 제26권3호
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    • pp.632-652
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    • 1996
  • It has been noted that a genetic alteration of cells influenced by unhealthy lifestyle in addition to a series of other carcinogens increases the incidence of various neoplasmic diseases. Therefore the importance of a lifestyle that minimizes such an impact on health should be emphasized. Since stomach cancer, the most common neoplasmic disease in Korea, is related to personal lifestyle and as there is a possibility of its recurrence, patients with stomach cancer need to lead a healthy lifestyle. Also the quality of life which patients experience is negatively affected by the side effects of treatments and the possibility of recurrence. Therefore an effective nursing intervention to enhance quality of life and encourage healthy lifestyle is needed. The purpose of this study is to provide a basis for nursing intervention strategies to promote health and thus enhance quality of life. A hypothetical model for this purpose was constructed based on Pender's Health Promotion Model and Becker's Health Belief Model, with the inclusion of some influential factors such as hope for quality of life and health promoting behavior. The aims of study were to : 1) evaluate the effectiveness of patient's cognitive-perceptual factors on health promoting behaviors and quality of life ; 2) examine the causal relationships among perceived benefit, perceived barrier, perceived susceptibility and severity, internal locus of control, perceived health status, hope, health concept, self efficacy, self esteem health promoting behaviors & quality of life ; 3) build and test a global hypothetical model. The subjects for this study were 164 patients who were being treated for stomach cancer were approached in the outpatient clinic on a University Hospital. The data from the completed questionnaires were analyzed using Linear Structural Relationships (LISREL). The results of research are as follows : 1) Hypothetical model and the modified model showed a good fit to the empirical data, revealing considerable explanational power for health promoting behaviors(54.9%) and quality of life(87.6%) 2) Self efficacy and hope had significant effects on health promoting behaviors. Of these, hope was affected indirectly through self efficacy and self esteem. 3) Perceived health status, hope and self esteem had significant direct effect on the quality of life. Of these variables, perceived health status was the most essential factor affecting general satisfaction in life. 4) Self-efficacy, as a mediating variable, was positively affected by perceived benefit and hope. 5) Self-esteem, as a mediating variable, was positively affected by perceived health status and hope. 6) Hope was the main variable affecting self efficacy, self esteem, health promoting behaviors and quality of life. The derived model in this study could effectively be used as a reference model for further study and could suggests a direction for nursing practices

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한국인에서 HLA 유전자 부위 내 Microsatellite 표지자의 분포와 HLA 대립유전자의 유전적 연관성 (Distributions of HLA Microsatellite Markers and the Linkage Disequilibria between HLA and Microsatellites in Koreans)

  • 장정필;최은정;윤호열;최희백;김희제;조병식;민우성;이종욱;김춘추;김태규
    • IMMUNE NETWORK
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    • 제7권3호
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    • pp.149-157
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    • 2007
  • Background: The microsatellites within human leukocyte antigen (HLA) region show considerable polymorphism and strong linkage disequilibrium (LD) with HLA alleles. These microsatellites have been used for genetic analysis including disease mapping to understand susceptibility to autoimmune and infectious diseases. Also, use of microsatellites has recently been proposed as an approach for identifying non-HLA markers within the HLA region that could function as transplantation determinants and for the selection of potential donors for transplantation. Methods: To analyse the frequency of five microsatellites in the Korean population, genotyping for polymorphisms at five microsatellites markers (BAT2, MIB, DQCAR, D6S105 and TNFd) within HLA region was performed on 143 healthy Korean controls. Results: The most frequent genotype shown in healthy Korean controls were BAT2 8 (153 bp, 42.7%), MIB 1 (326 bp, 40.6%), DQCAR 3 (188 bp, 38.5%), D6S105 7 (126 bp, 58.0%) and TNFd 3 (128 bp, 58.0%). And common two-loci haplotypes were found as MIB 1-HLA-B*62 (HF: 10.6%), MIB 6-HLA-B*44 (HF: 7.8%), DQCAR 3-HLA-DRB1*13 (HF: 8.5%), TNFd 5-HLA-B*62 (HF: 7.8%) and D6S105 7-HLA-A*02 (HF: 16.2%). Conclusion: These data might provide useful information on the microsatellites markers with HLA region in Korean population and be helpful in further defining the clinical impact of these microsatellites.