• Title/Summary/Keyword: genetic susceptibility

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Molecular Typing of Salmonella enterica serovar Typhi Strains Isolated in Busan by Pulsed-Field Gel Electrophoresis (부산지역에서 분리된 Salmonella enterica serovar Typhi균에 대한 PFGE를 이용한 Molecular typing)

  • Min, Sang-Kee;Lee, Ju-Hyun;Park, Eun-Hee;Kim, Jung-Ah;Kim, Kyu-Won
    • Journal of Life Science
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    • v.16 no.4
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    • pp.664-671
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    • 2006
  • We obtained 424 Salmonella enterica serovar Typhi isolates from sporadic cases of infection in Busan during 1996 to 2005. We investigated the trend of antimicrobial resistance and molecular typing by pulsed-field gel electrophoresis (PFGE). Of the total 424 isolates, 6 strains (1.4%) were multidrug-resistant (MDR) S. enterica serovar Typhi isolates, 2 strains (0.5%) were resistant to only nalidixic acid, and the remaining 416 strains (98.1%) were fully susceptible to the 18 antimicrobial agent. PFGE of XbaI-digested chromosomal DNA was performed on 50 sporadic S. enterica serovar Typhi isolates with the objective of investigating the extent of genetic diversity of these isolates in our region. We could find that these isolates were much more heterogeneous and at least 32 different PFGE patterns were generated according by dice coefficient, between 0.69 and 1.0. Restriction fragment patterns consisted of 13 to 18 fragments ranged in size from 20 to 630 kb. The results confirmed that PFGE would be an useful tool for investigating surveillance of sporadic or outbreak case and assessing clonality for S. enterica serovar Typhi in Busan area. Our finding will be valuable in developing rational strategies to control this pathogen and setting the basis of an effective PulseNet system in Korea.

Mineralogy, Geochemistry, and Evolution of the Mn-Fe Phosphate Minerals within the Pegmatite in Cheolwon, Gyeonggi Massif (경기육괴 철원지역 페그마타이트 내 망간-철 인산염광물의 광물-지화학적 특징 및 진화과정)

  • Kim, Gyoo Bo;Choi, Seon Gyu;Seo, Jieun;Kim, Chang Seong;Kim, Jiwon;Koo, Minho
    • Economic and Environmental Geology
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    • v.50 no.3
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    • pp.181-193
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    • 2017
  • Mn-Fe phosphate mineral complexes included within the pegmatite are observed at Jurassic Cheolwon two-mica granite in Gyeonggi Massif, South Korea. The genetic evolution between the Cheolwon two-mica granite and pegmatite, and various trend of Mn-Fe phosphate minerals is made by later magmatic, hydrothermal, and weathering process based on mineralogical, geochemical analysis. The Cheolwon two-mica granite is identified as S-type granite, considering its chemical composition (metaluminous ~ peraluminous), post-collisional environment, low magnetic susceptibility, and existence of biotite and muscovite. The K-Ar age (ca. 153 Ma) of pegmatite is well coincident with age of the Cheolwon two-mica granite ($151{\pm}4Ma$). It indicates that these two rocks are originated from the same magma. Pegmatite indicates the LCT geochemical signature, and was classified as muscovite-rare element class / Li subclass / beryl type / beryl-columbite-phosphate subtype pegmatite. The triplite $\{(Fe^{2+}{_{0.4}},Mn_{1.6})(PO_4)(F_{0.9})\}$ is dominant phosphates in later magmatic stage which partly altered to leucophosphite $\{KFe^{3+}{_2}(PO_4)_2OH{\cdot}2H_2O\}$ and jahnsite $\{(Fe^{3+}{_{0.7}},Mn_{2.3})(PO_4)_2OH{\cdot}4H_2O\}$ by hydrothermal alteration. In particular, near fractures, the triplite has been separatelty replaced by the phosphosiderite ($Fe^{3+}PO_4{\cdot}2H_2O$) and Mn-oxide minerals during weathering stage.

Glutathione S-transferases (GSTM1, GSTT1 and GSTP1) and N-acetyltransferase 2 Polymorphisms and the Risk of Gastric Cancer (위암 환자에서 Glutathione S-transferases (GSTM1, GSTT1, GSTP1) 및 N-acetyltransferase 2 유전자 다형성 분포)

  • Hong, Su-Hyung;Kim, Jung-Wan;Kim, Ho-Gak;Park, In-Kyu;Ryoo, Jun-Wook;Lee, Chang-Hyeong;Sohn, Yoon-Kyung;Lee, Jong-Young
    • Journal of Preventive Medicine and Public Health
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    • v.39 no.2
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    • pp.135-140
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    • 2006
  • Objectives : Polymorphisms of genes from glutathione Stransferases (GSTs) and N-acetyltransferase 2 (NAT2) have been associated with increased susceptibility to various cancers. Previous results showed that East Asians such as Koreans, Japanese and Chinese have a much higher frequency of the GSTM1 and GSTT1 null genotypes and NAT2 rapid acetylator type. Therefore, we investigated the association between the polymorphic types of GSTs (GSTM1, GSTT1, GSTP1) and NAT2 and the incidence of gastric cancer which is one of the most prevalent cancers among the East Asians. Methods : It was performed in a case-control study consisting of 238 healthy subjects and 108 cancer patients (54 distal and 54 proximal carcinomas). We also evaluated the association between GSTs and NAT2 and the risk factors for gastric cancer such as alcohol consumption, smoking, H. pylori infection, family history of gastric cancer, and tumor location. Results : In our study, the percentage of cases whose hometown was rural was higher than those of controls (odds ratio (OR) =2.88; 95% CI=1.72-4.76), and the frequency of the lower socio-economic status increased significantly in patients (OR=2.53; 95% CI=1.59-4.02). There was no significant difference in the GST polymorphic types between the cases and controls. However, NAT2 rapid or intermediate acetylator types were frequently detected in the cases with family history of gastric cancer (OR=1.92; 95% CI=1.79-26.0). Conclusions : These results suggest that the hometown and socio-economic status are important environmental factors for gastric carcinogenesis, and NAT2 polymorphic types could be associated with familial gastric carcinoma.

Human and Animal Disease Biomarkers and Biomonitoring of Deoxynivalenol and Related Fungal Metabolites as Cereal and Feed Contaminants (곡물 및 사료오염 데옥시니발레놀 및 대사체에 의한 인축질환 연계 생체지표 및 바이오모니터링)

  • Moon, Yuseok;Kim, Dongwook
    • Journal of Food Hygiene and Safety
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    • v.29 no.2
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    • pp.85-91
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    • 2014
  • Deoxynivalenol (DON) and related trichothecene mycotoxins are extensively distributed in the cereal-based food and feed stuffs worldwide. Recent climate changes and global grain trade increased chance of exposure to more DON and related toxic metabolites in poorly managed production systems. Monitoring the biological and environmental exposures to the toxins are crucial in protecting human and animals from toxicities of the hazardous contaminants in food or feeds. Exposure biomarkers including urine DON itself are prone to shift to less harmful metabolites by intestinal microbiota and liver metabolic enzymes. De-epoxyfication of DON by gut microbes such as Eubacterium strain BBSH 797 and Eubacterium sp. DSM 11798 leads to more fecal secretion of DOM-1. By contrast, most of plant-derived DON-glucoside is also easily catabolized to free DON by gut microbes, which produces more burden to body. Phase 2 hepatic metabolism also contributes to the glucuronidation of DON, which can be useful urine biomarkers. However, chemical modification could be very typical depending on the anthropologic or genetic background, luminal bacteria, and hepatic metabolic enzyme susceptibility to the toxins in the diet. After toxin exposure, effect biomarkers are also important in estimating the linkage and mechanisms of foodborne diseases in human and animal population. Most prominent adverse effects are demonstrated in the DON-induced immunological and behavioral disorders. For instance, acutely elevated interleukin-8 from insulted gut exposed to dietaty DON is a dominant clinical biomarker in human and animals. Moreover, subchronic exposure to the toxins is associated with high levels of serum IgA, a biological mediator of IgA nephritis. In particular, anorexia monitoring using mouse models are recently developed to monitor the biological activities of DON-induced feed refusal. It is also mechanistically linked to alteration of serotoin and peptide YY, which are promising biomarkers of neurological disorders by the toxins. As animal-alternative biomonitoring, huamn enterocyte-based assay has been developed and more realistic gut mimetic models would be useful in monitoring the effect biomarkers in resposne to toxic contaminants in the future investigations.

Genetic Properties and Antimicrobial Resistance of Campylobacter jejuni Isolates from Diarrhea Patients in Gyeonggi-do (경기도내에서 분리한 캠필로박터 제주니균의 유전적특성 및 항생제내성 연구)

  • Hur, Eun-Seon;Park, Po-Hyun;Kim, Jong-Hwa;Son, Jong-Sung;Yun, Hee-Jeong;Lee, Yea-Eun;Choi, Yun-Sook;Yoon, Mi-Hye;Lee, Jong-Bok
    • Korean Journal of Microbiology
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    • v.49 no.3
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    • pp.228-236
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    • 2013
  • Campylobacter jejuni is one of important food-borne pathogens causing human gastroenteritis. We isolated 42 strains of C. jejuni from diarrhea patients and 4 food-poisoning outbreaks in 2010, Gyeonggi-do. In this study, 42 strains were tested for genetic characteristics, the serotype distribution and antimicrobial resistant rate. The presence of hipO (100%), cdtB (100%), and mutated gyrA (95.2%) genes was detected in C. jejuni by polymerase chain reaction (PCR). Detection of mutated gyrA gene correlated with ciprofloxacin resistance. Forty isolates had mutated gyrA gene and were actually resistant to ciprofloxacin. Furthermore, comparing the gyrA DNA sequence data, ciprofloxacin-resistant isolates had a mutation of the DNA sequence from ACA (threonine) to ATA (isoleucine). But 41 strains (97.6%) of patient isolates were susceptible to erythromycin and azithromycin. A total of 35.7% among 42 C. jejuni isolates were identified into 4 different serotypes. The serotype distribution of C. jejuni strains were shown to be HS2(B), HS3(C), HS4(D), HS19(O). To investigate the genotypes of C. jejuni isolated in Gyeonggi province, repetitive sequence polymerase chain reaction (rep-PCR) analysis and SmaI-digested pulsed-filed gel electrophoresis (PFGE) profile analysis were performed. From the PFGE analysis of 42 C. jejuni strains, 12 clusters of PFGE profile were obtained. On the other hand, 11 clusters of rep-PCR profile were obtained from 42 strains of C. jejuni.

Polymorphisms of HLA-DRB1 and -DQB1 Genes in Korean Patients with Pulmonary Tuberculosis (한국인 폐결핵 환자에서 HLA-DRB1 및 -DQB1 유전자의 다형성에 관한 연구)

  • Park, Myoung Hee;Song, Eun Young;Kwon, Sung Youn;Park, He Jin;Han, Sung Koo;Shim, Young Soo
    • Tuberculosis and Respiratory Diseases
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    • v.54 no.4
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    • pp.367-377
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    • 2003
  • Background : It is well known that only 10% of those infected with Mycobacterium tuberculosis actually develop clinical disease, indicating the existence of host genetic factors regulating disease expression. In this study, we investigated HLA-DRB1 and -DQB1 gene polymorphisms in Korean patients with pulmonary tuberculosis (PTB). Methods : HLA-DRB1 and -DQB1 gene polymorphisms were investigated in 67 PTB patients without previous treatment history, 38 drug-sensitive (DS) and 29 multidrug-resistant (MDR) cases, and 200 healthy controls. HLA-DRB1 typing was done using reverse SSO (sequence specific oligonucleotide) and PCR-SSCP (single strand conformational polymorphism) methods and DQB1 typing was done using PCR-RFLP (restriction fragment length polymorphism), PCR-SSCP and PCR-SSP (sequence specific primer) methods. Results : Among the PTB patients, MDR-TB cases showed frequencies of DRB1*0701 and *08032 increased by about two-fold compared to those of normal controls, and likewise for their associated DQB1 alleles, DQB1*0202 and *0601 (15.5% vs. 34.5%, p=0.01). The frequency of HLA-DQB1*0609 was significantly increased in PTB patients (4.0% vs. 14.9%, p=0.004), showing similar increases in both DS and MDR cases. There was also an association of HLA alleles with the clinical severity of the disease according to the extent of lung lesion. Significantly increased frequencies of DRB1*08032 (4.2% vs. 32.6%, p=0.007) and DQB1*0601 (12.5% vs. 34.9%, p=0.047) were observed in more advanced (moderately & far advanced/DS and far advanced/MDR), compared with less advanced (minimal/DS and moderately advanced/MDR) lung lesions. Although DRB1*0701, DQB1*0202 and DQB1*0609 showed significant increases in different subsets of the disease, these HLA alleles did not show consistent association with disease severity. Conclusion : HLA-DRB1*08032 and DQB1*0601 alleles were associated with genetic susceptibility to MDR-TB in Korean patients, and also with disease severity and progression of PTB.

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.

Association between the Human Surfactant Protein-A(SP-A) Gene Locus and Chronic Obstructive Pulmonary Disease in Korean Population (한국인에서 만성폐쇄성폐질환과 인체 폐 표면 활성제 단백-A 유전자 대립형질의 상관관계)

  • Na, Joo Ock;Oh, Myung Ho;Choi, Jae Sung;Seo, Ki Hyun;Kim, Yong Hoon
    • Tuberculosis and Respiratory Diseases
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    • v.60 no.6
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    • pp.638-644
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    • 2006
  • Backgrounds: This study investigated whether or not a polymorphism in the gene encoding the surfactant protein A(SP-A) has any bearing on the individual susceptibility to the development of chronic obstructive pulmonary disease(COPD) in a genetically homogenous Korean population. Methods: The genotypes of 19 COPD patients and 20 healthy neonates as controls were tested using a polymerase chain reaction followed by restriction fragment length polymorphism analysis for the SP-A gene. Results: The specific frequencies of the 6A2 and 6A18 alleles of SP-A1 and the 1A2 allele of SP-A2 were much higher in the COPD group than control group (p<0.05). However, the frequencies of the 6A3 and 6A4 alleles of SP-A1 and the 1A0 allele of SP-A2 in the COPD group were significantly lower than the control group. In the COPD group, the frequencies of the +50 locus genotypes GG of SP-A1 and the +9 locus genotypes CC of SP-A2 were 85.0% and 60.6%, respectively, and 19.7% and 24.8% in the control group, respectively. The frequencies of the polymorphic genotypes or alleles showed a statistically significant difference between the COPD group and the control group (P<0.05). Conclusion: A genetic polymorphism in SP-A is associated with the development of COPD in the Korean population.

Genetic and Agronomic Analysis of a Recombinant Inbred Line Population to Map Quantitative Trait Loci for Blast Resistance and Select Promising Lines in Rice (벼 RIL집단의 유전 분석과 농업형질 분석을 통한 도열병 저항성 QTL 탐색 및 유망계통 선발)

  • Ha, Su-Kyung;Jeung, Ji-Ung;Jeong, Jong-Min;Kim, Jinhee;Mo, Youngjun
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.65 no.3
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    • pp.172-181
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    • 2020
  • Koshihikari has been one of the most popular rice cultivars with good eating quality since the 1960s despite its susceptibility to blast disease and lodging. To map the genes controlling blast resistance and to develop promising blast-resistant breeding lines inheriting Koshihikari's high eating quality, a recombinant inbred line (RIL) population was developed from a cross between Koshihikari and a blast resistance donor with early maturity, Baegilmi. A total of 394 Koshihikari × Baegilmi RILs (KBRIL), and the two parents, were evaluated for blast resistance and major agronomic traits including heading date, culm length, panicle length, and tiller number. A linkage map encompassing 1,272.7 cM was constructed from a subset of the KBRIL (n = 142) using 130 single nucleotide polymorphisms. Two quantitative trait loci (QTL) for blast resistance, qBL1.1 harboring Pish/Pi35 and qBL2.1 harboring Pib, were mapped onto chromosomes 1 and 2, respectively. qBL1.1 was detected in both of the experimental sites, Namwon and Jeonju, while qBL2.1 was only detected in Namwon. qBL1.1 and qBL2.1 did not affect agronomic traits, including heading date, culm length, panicle length, and tiller number. From the 394 KBRILs, lines that were phenotypically similar to Koshihikari were selected according to heading date and culm length and were further divided into the following two groups based on blast resistance: Koshishikari-type blast resistant lines (KR, n = 15) and Koshishikari-type blast susceptible lines (KS, n = 15). Although no significant differences were observed in the major agronomic traits between the two groups, the KR group produced a greater mean head rice ratio than the KS group. The present study provides useful materials for developing blast-resistant cultivars that inherit both Koshihikari's high eating quality and Baegilmi's blast resistance.

TNF-α stimulated IL-8 and IL-10 expression in monocytes from patients with chronic granulomatous disease (만성육아종질환 환자 단핵구에서 TNF-α 자극에 의한 IL-8과 IL-10의 발현 양상)

  • Shin, Kyung-Sue
    • Clinical and Experimental Pediatrics
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    • v.51 no.10
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    • pp.1096-1101
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    • 2008
  • Purpose : Patients with chronic granulomatous disease (CGD) have genetic mutations in a component of the NADPH oxidase enzyme that is necessary for the generation of the superoxide anion. The profound defect in innate immunity is reflected by the patients susceptibility to catalase-positive bacteria and fungi. In addition, CGD patients display signs of persistent inflammation, which is not associated only with deficient superoxide anion production. The aim of this study was to elucidate the cytokine responses in CGD patients after $TNF-{\alpha}$ stimulation. Methods : Heparinized blood samples were collected from 8 CGD patients and 10 healthy volunteers. Monocytes ($1{\times}10^6cell/well$) isolated by the magnet cell isolation system were incubated with a constant amount of $TNF-{\alpha}$ (10 ng/mL) at $37^{\circ}C$ for 6 h. Incubated cells were harvested at 60-min intervals for IL-8 and IL-10 mRNA analysis, and the supernatant was collected at the same intervals to determine IL-8 and IL-10 expression. Monocytes from healthy volunteers were also incubated with antioxidants followed by $TNF-{\alpha}$ stimulation for IL-8 and IL-10 expression. Results : In CGD patients, a high expression of IL-8 together with a significantly higher IL-10 expression than in the healthy controls was seen after $TNF-{\alpha}$ stimulation. Moreover, normal monocytes treated with antioxidants exhibited increased IL-8 responses. Conclusion : The absence of phagocyte-derived reactive oxidants in CGD might be associated with a dysregulated production of pro- and antiinflammatory cytokines. Additional research related to reactive oxidants is needed to clarify the role of cytokines in CGD patients.