• 생물정신의학
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• 제19권3호
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• pp.134-139
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• 2012

Objectives : Proinflammatory process has been implicated as an underlying mechanism of bipolar disorder and schizophrenia. Previous studies have suggested a possible role of lymphotoxin alpha (LTA) gene in the development of schizophrenia and have prompted further investigation in bipolar patients. Association of the LTA +252A/G polymorphism with susceptibility to bipolar I disorder itself as well as with vulnerability among a subset of psychotic bipolar patients were tested. Methods : DNA extraction was done by a standard method and genotyping was carried out by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 114 Korean patients with bipolar I disorder and 202 healthy controls. SPSS v18.0 was used for statistical analysis. Comparisons of the genotype and allele distributions in LTA +252A/G polymorphism were made using a chi-square test. The genotype and allele associations were also evaluated using odds ratio (OR) and 95% confidence interval (CI). Statistical significance was accepted when p was < 0.05. Results : No significant association was found between the LTA +252A/G polymorphism and bipolar disorder. However, LTA +252G allele was present with significantly higher frequency among bipolar patients with psychotic features compared to those without (${\chi}^2$ = 4.69, p = 0.034, OR = 2.495, 95% CI = 1.069-5.827). Conclusion : The results suggest that the allele LTA +252G of the polymorphism may be associated with the psychotic subset of bipolar disorder but not with bipolar I disorder itself. Adequately powered subsequent studies should be conducted.

• Asian Pacific Journal of Cancer Prevention
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• 제14권12호
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• pp.7583-7586
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• 2013

Background: Suppressor of cytokine signaling (SOCS)-1 acts as a key regulator of many cytokine signaling pathways and its abnormal expression has been identified in several human malignancies, suggesting potential roles in carcinogenesis. The aim of this study was to investigate any association between the functional SOCS-1 -1478CA>del polymorphism and colorectal cancer (CC) as well as age at onset in a Turkish clinical sample. Materials and Methods: A total of 122 subjects were enrolled in this case-control study (70 CC cases and 52 controls). The SOCS-1 -1478CA>del polymorphism was genotyped using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: The odds ratio of the del allele for CC relative to the CA allele was not significantly different between the groups (OR=0.71, 95% CI=0.41-1.22, p=0.27). This result did not change after adjustment for age and sex on multivariable regression analysis (OR=0.84, 95% CI=0.59-1.34, p=0.53). When the SOCS-1 -1478CA>del polymorphism was analyzed among CC patients in relation to the age at disease onset, we found no significant differences between subjects with the del/del, CA/del, and CA/CA genotypes. Conclusions: The results of our study did not point towards a major role of the SOCS-1 -1478CA>del polymorphism in the pathogenesis of CC in Turkish subjects.

• Asian-Australasian Journal of Animal Sciences
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• 제30권12호
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• pp.1689-1695
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• 2017

Objective: The cytokine inducible SH2-containing protein (CISH), which might play a role in porcine intestine immune responses, was one of the promising candidate genes for piglet anti-disease traits. An experiment was conducted to characterize the porcine CISH (pCISH) gene and to evaluate its genetic effects on pig anti-disease breeding. Methods: Both reverse transcription polymerase chain reaction (RT-PCR) and PCR were performed to obtain the sequence of pCISH gene. A pEGFP-C1-CISH vector was constructed and transfected into PK-15 cells to analysis the distribution of pCISH. The sequences of individuals were compared with each other to find the polymorphisms in pCISH gene. The association analysis was performed in Min pigs and Landrace pigs to evaluate the genetic effects on piglet diarrhea traits. Results: In the present research, the coding sequence and genomic sequence of pCISH gene was obtained. Porcine CISH was mainly localized in cytoplasm. TaqI and HaeIII PCR restriction fragment length polymorphism (RFLP) assays were established to detect single nucleotide polymorphisms (SNPs); A-1575G in promoter region and A2497C in Intron1, respectively. Association studies indicated that SNP A-1575G was significantly associated with diarrhea index of Min piglets (p<0.05) and SNP A2497C was significantly associated with the diarrhea trait of both Min pig and Landrace piglets (p<0.05). Conclusion: This study suggested that the pCISH gene might be a novel candidate gene for pig anti-disease traits, and further studies are needed to confirm the results of this preliminary research.

• Asian Pacific Journal of Cancer Prevention
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• 제16권18호
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• pp.8287-8292
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• 2016

Background: Thymidylate synthase (TS) catalyzes the methylation of deoxyuridylate to deoxythymidylate and is involved in DNA methylation, synthesis and repair. Two common polymorphisms have been reported, tandem repeats in the promoter-enhancer region (TSER), and 6bp ins/del in the 5'UTR, that are implicated in a number of human diseases, including cancer. The association between the two polymorphisms in risk for lung cancer (LC) was here investigated in the Jordanian population. Materials and Methods: An age, gender, and smoking-matched case-control study involving 84 lung cancer cases and 71 controls was conducted. The polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) technique was used to detect the polymorphism of interest. Results: Individuals bearing the ins/ins genotype were 2.5 times more likely to have lung cancer [(95%CI: 0.98-6.37), p=0.051]. Individuals who were less than or equal to 57 years and carrying ins/ins genotype were 4.6 times more susceptible to lung cancer [OR<57 vs >57years: 4.6 (95%CI: 0.93-22.5), p=0.059)]. Genotypes and alleles of TSER were distributed similarly between cases and controls. Weak linkage disequilibrium existed between the two loci of interest (Lewontin's coefficient [D']) (LC: D' =0.03, r2: 0. 001, p=0.8; Controls: D' =0.29, r2: 0.08, p=0.02). Carriers of the "3 tandem repeats_insertion" haplotype (3R_ins) were 2 times more likely to have lung cancer [2 (95%CI: 1.13-3.48), p=0.061]. Conclusions: Genetic polymorphism of TS at 3 'UTR and its haplotype analysis may modulate the risk of lung cancer in Jordanians. The 6bp ins/del polymorphism of TS at 3 'UTR is more informative than TSER polymorphism in predicting increased risk.

• Asian Pacific Journal of Cancer Prevention
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• 제17권1호
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• pp.57-64
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• 2016

Background: Tobacco smoking is considered a risk factor for cervical cancer development due to the presence of tobacco based carcinogenic metabolites in cervical cells of female smokers. In this study, we investigated the role of the T3801C (MspI) polymorphism of CYP1A1, a gene encoding an enzyme necessary for the initiation of tobacco based carcinogen metabolism, on cervical cancer risk. The T to C substitution may alter CYP1A1 activities, potentially elevating cervical cancer risk. Since results of gene-disease association studies vary according to the study population, the multi-ethnic population of Malaysia provides an excellent representative cohort for identifying and comparing the cervical cancer risk among the 3 major ethnics in Southeast Asia in relation to CYP1A1 MspI polymorphism. Materials and Methods: A total of 195 Thin Prep Pap smear samples from HPV negative and cancer free females were randomly selected as controls while 106 formalin fixed paraffin embedded samples from females with invasive cervical cancer were randomly selected for the cases group. The polymorphisms were identified using restriction fragment length polymorphism (RFLP) PCR. Results: We found no significant associations between CYP1A1 MspI polymorphism and cervical cancer in the general Malaysian female population. However, upon ethnic stratification, the variant C/C genotype was significantly associated with a 4.66-fold increase in cervical cancer risk in Malay females (95% CI= 1.21-17.9; p=0.03). No significant association was observed in the Chinese and Indian females. Additionally, there were no significant associations in the dominant model and allele frequency model analysis in both the general and ethnically stratified female population of Malaysia. Conclusions: Our findings suggest that the C/C genotype of CYP1A1 MspI polymorphism is associated with the development of cervical carcinoma in the Malay females of Malaysia.

• Journal of Preventive Medicine and Public Health
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• 제37권4호
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• pp.321-328
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• 2004

Objectives : The purpose of this study was to investigate the effect of genetic polymorphism of cytochrome P450 2E1 (CYP2E1) and aldehyde dehydrogenase 2 (ALDH2) on the xylene metabolism. Methods : Among 247 workers, 116 were occupationally exposed to xylene and 131 were not. Workers exposed to xylene had different work such as spray, touch-up, mix & assist, and pre-treat. Questionnaire variables were age, sex, use of personal protective equipment, smoking, previous night's drinking and work duration. The urinary methylhippuric acid was measured in the urine collected in the afternoon and corrected by urinary creatinine concentration. The genotypes of CYP2E1 and ALDH2 were investigated by using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) methods with DNA extracted from venous blood. Results : 1. The urinary concentrations of o-, m-, and p-methylhippuric acid and total methylhippuric acid in the exposed group were significantly higher than those in the non-exposed group (p<0.001). 2. In multiple regression analysis, the urinary methylhippuric acid concentration was significantly influenced by exposure grade (Job-exposure matrixes), smoking, drug use and kind of protective equipment (p<0.1). 3. Genetic polymorphism of CYP2E1 and ALDH2 did not affect urinary methylhippuric acid level in the exposed group (p>0.05). Conclusions : Exposure grade, smoking, drug use and kind of protective equipment affected urinary methylhippuric acid level, whereas genetic polymorphism of CYP2E1 and ALDH2 did not. However, further investigation for the effect of genetic polymorphism on the metabolism of xylene with a larger sample size is needed.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제7권2호
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• pp.137-142
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• 2004

목적: 우리 나라 소아에 감염된 H. pylori에서 PCR RFLP를 이용하여 clarithromycin 내성의 원인으로 알려진 23S rRNA의 돌연변이를 찾아내고, cagA, vacA 유전형과 clarithromycin 내성 돌연변이 사이에 연관이 있는지 알아보고자 하였다. 방법: 서울대학교병원 소아과에서 위내시경검사를 통해 H. pylori 위염으로 진단 받은 환아 27명의 내시경 생검 조직에서 H. pylori cagA, vacA 유전자를 증폭하여 유전형을 조사하였다. H. pylori의 23 rRNA V domain을 조사하기 위해 증폭한 후, PCR 산물은 BsaI과 MboII 제한효소로 처리하여 PCR RFLP를 이용하여 돌연변이 여부를 판정하였다. 결과: A2143G 돌연변이가 1명에서, A2144G 돌연변이가 4명에서 발견되어 18.5%가 clarithromycin 내성으로 관찰되었다. cagA 양성이 25명(93%)이었고, vacA s1a/m1이 6명(22%), s1a/m2가 3명(11%), s1c/m1이 16명(59%), s1c/m2가 1명(4%)이었다. clarithromycin 내성 돌연변이를 보이는 경우는 모두 cagA 양성이었고 s1a/m1이 2명, s1c/m1이 2명으로 특정 유전형이 clarithromycin 내성 돌연변이와 연관성을 보이지 않았다. 결론: 위점막 조직에서 PCR-RFLP를 이용한 H. pylori의 clarithromycin 내성 검사는 항생제를 선택하는데 유용하다고 생각된다. Clarithromycin 내성 돌연변이는 cagA, vacA 유전형과 연관성이 없었다.

• Journal of Animal Science and Technology
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• 제50권5호
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• pp.633-640
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• 2008

소의 모색 발현에 결정적인 역할을 수행하며 Extension 좌위에 암호화되어 있는 melanocortin- 1 receptor(MC1R) 유전자형을 변형된 염기서열이 증폭되게 제작된 이중 mismatch primer 쌍을 이용하여 PCR-RFLP 방법으로 분석하였다. 증폭된 PCR 절편들은 MC1R 유전자에서 모색 표현형과 직접적으로 연관되어 있어 중요하게 다루어지고 있는 세 가지 대립인자들(ED, E+, e)로 MspI-과 AluI-RFLP에 의해 성공적으로 구분되었다. MC1R 유전자형의 분포를 조사한 결과 제주흑우는 세 가지 대립인자가 모두 출현하였고, 황－적모색의 한우와 호피문의 칡소에서는 흑모색우성 대립인자 ED가 출현하지 않았다. 반면, 우성흑모색으로 알려진 두 소 품종 Holstein과 Angus는 ED 대립인자의 빈도가 96% 이상으로 조사되었다. 한우×Holstein F1과 한우×Angus F1은 모두 ED/e의 유전자형을 나타내었고, 표현형은 전신 흑색으로 확인되었다. 본 연구에서 고안한 이중 mismatch primer 쌍을 이용한 MC1R 유전자 증폭 절편에 대한 MspI-과 AluI-RFLP 조합은 소의 품종 특성 규명과 품종 식별에서 매우 중요한 유전자 표지인자 중 하나인 MC1R 유전자의 세 가지 대립인자를 식별하는 데 유용한 실험기법이 될 것으로 사료된다.

• 대한수의학회지
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• 제54권2호
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• pp.91-99
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• 2014

An antimicrobial susceptibility test was conducted to compare the resistance rates among Campylobacter spp. isolates from dogs (n = 50) raised under diverse conditions and humans (n = 50). More than 60% of Campylobacter (C.) jejuni from dogs and humans showed resistance to nalidixic acid, enrofloxacin and ciprofloxacin. C. jejuni isolates from humans showed higher resistance to tetracycline (83.3%) and ampicillin (91.3%) than those from dogs. None of the C. jejuni or Campylobacter coli isolates from humans or dogs were resistant to erythromycin. Overall, 85% of Campylobacter spp. isolates showed a multidrug resistant phenotype. Nucleotide sequencing analysis of the gryA gene showed that 100% of $NA^R/CIP^R$ C. jejuni isolates from dogs and humans had the Thr-$86^{th}$-Ile mutation, which is associated with fluoroquinolone resistance. flaA PCR restriction fragment length polymorphism (RFLP) typing to differentiate the isolates below the species level revealed 12 different clusters out of 73 strains. The human isolates belonged to eight different RFLP clusters, while five clusters contained dog and human isolates.

• Fisheries and Aquatic Sciences
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• 제19권5호
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• pp.26.1-26.8
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• 2016

Background: The nematode species belonging to genus Anisakis occur at their third larval stage in numerous marine teleost fish species worldwide and known to cause accidental human infection through the ingestion of raw or undercooked fish or squids. They may also draw the attention of consumers because of the visual impact of both alive and dead worms. Therefore, the information on their geographical distribution and clear species identification is important for epidemiological survey and further prevention of human infection. Results: For identification of anisakid nematodes species isolated from largehead hairtail (Trichiurus japonicus), polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis of internal transcribed spacers of ribosomal DNA were conducted. Mitochondrial cytochrome c oxidase subunit 2 gene was also sequenced, and phylogenetic analysis was conducted. From the largehead hairtail (n = 9), 1259 nematodes were isolated in total. Most of the nematodes were found encapsulated throughout the viscera (56.2 %, 708/1259) or moving freely in the body cavity (41.5 %, 523/1259), and only 0.3 % (4/1259) was found in the muscles. By PCR-RFLP, three different nematode species were identified. Anisakis pegreffii was the most dominantly found (98.7 %, 1243/1259) from the largehead hairtail, occupying 98.7 % (699/708) of the nematodes in the mesenteries and 98.1 % (513/523) in the body cavity. Hybrid genotype (Anisakis simplex ${\times}$ A. pegreffii) occupied 0.5 %, and Hysterothylacium sp. occupied 0.2 % of the nematodes isolated in this study. Conclusions: The largehead hairtail may not significantly contribute accidental human infection of anisakid nematode third stage larvae because most of the nematodes were found from the viscera or body cavity, which are not consumed raw. But, a high prevalence of anisakid nematode larvae in the largehead hairtail is still in concern because they may raise food safety problems to consumers. Immediate evisceration or freezing of fish after catch will be necessary before consumption.