• 제목/요약/키워드: DNA variants

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Human Papillomavirus Genotypes Associated with Mucopurulent Cervicitis and Cervical Cancer in Hangzhou, China

  • Shen, Xing-Hang;Liu, Shu-Hua
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권6호
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    • pp.3603-3606
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    • 2013
  • Background: To investigate the infection status and predominant genotype distribution of human papillomavirus (HPV) infection among Chinese patients with mucopurulent cervicitis (MPC) or cervical cancer (CC) in Hangzhou. Methods: Initially, 217 cases of healthy cervix controls (n=50), acute MPC (n=89), and CC (n=78) were included; samples were collected between January 1, 2010, and January 30, 2013. Cervical specimens were screened for HPV using a nested polymerase chain reaction assay and DNA sequencing. Results: Overall prevalence of HPV infection was 16.7% in the control group, 51.9% in the MPC group, and 84.4% in the CC group. The predominant genotype detected in all 3 groups was the oncogenic variant HPV 16 (55.8%, 17.3%, and 6.3% in the CC, MPC and control specimens, respectively), HPV58 was the second most predominant HPV type in CC (9.1%), MPC (8.6%), and control group (4.2%). Most or all of the genotypes were oncogenic in the three groups. Conclusions: Infection with HPV was found to be prevalent among Chinese women with MPC or CC and oncogenic variants were in the majority. Therefore, peoples who suffered MPC with HPV DNA positive should be regularly followed-up, for prevention and early treatment of cervical cancer.

환경성 발암 기전에서 유전자-환경 상호작용의 역할 (The Role of Gene-environment Interaction in Environmental Carcinogenesis)

  • 한소희;이경무
    • 한국환경보건학회지
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    • 제36권1호
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    • pp.1-13
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    • 2010
  • Evidences supporting gene-environment interaction are accumulating in terms of environmental exposure including lifestyle factors and related genetic variants. One form of defense mechanism against cancer development involves a series of genes whose role is to metabolize (activation/detoxification) and excrete potentially toxic compounds and to repair subtle mistakes in DNA. The purpose of this article is to provide a brief review of the notion of gene-environment interaction, environmental/occupational carcinogens and related cancers, and previous studies of gene-environment interaction on cancers caused by exposure to carcinogenesis. With a number of studies on the interaction between lifestyle factors (e.g., smoking and diet) and genetic polymorphisms in genes involved in xenobiotic metabolism and DNA repair excluded, only several studies have been conducted on the interactive effects between polymorphisms of CYPs, GSTs, ERCCs, XRCCs and environmental/occupational carcinogens such as vinyl chloride, benzo[a]pyrene, and chloroform on carcinogenesis or genotoxicity. Future studies may need to be conducted with sufficient number of subjects and based on occupational cohorts to provide useful information in terms of advanced risk assessment and regulation of exposure level.

Identification and Characterization of Putative Integron-Like Elements of the Heavy-Metal-Hypertolerant Strains of Pseudomonas spp.

  • Ciok, Anna;Adamczuk, Marcin;Bartosik, Dariusz;Dziewit, Lukasz
    • Journal of Microbiology and Biotechnology
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    • 제26권11호
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    • pp.1983-1992
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    • 2016
  • Pseudomonas strains isolated from the heavily contaminated Lubin copper mine and Zelazny Most post-flotation waste reservoir in Poland were screened for the presence of integrons. This analysis revealed that two strains carried homologous DNA regions composed of a gene encoding a DNA_BRE_C domain-containing tyrosine recombinase (with no significant sequence similarity to other integrases of integrons) plus a three-component array of putative integron gene cassettes. The predicted gene cassettes encode three putative polypeptides with homology to (i) transmembrane proteins, (ii) GCN5 family acetyltransferases, and (iii) hypothetical proteins of unknown function (homologous proteins are encoded by the gene cassettes of several class 1 integrons). Comparative sequence analyses identified three structural variants of these novel integron-like elements within the sequenced bacterial genomes. Analysis of their distribution revealed that they are found exclusively in strains of the genus Pseudomonas.

HBV YMDD 돌연변이형 검사 시 염기서열법과 Restriction Fragment Mass Polymorphism 법의 비교 (The Comparison of Sequencing Method with Restriction Fragment Mass Polymorphism Method for the Detection of HBV YMDD Mutants)

  • 정안나;정희경;최삼규;박정오
    • 대한임상검사과학회지
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    • 제37권3호
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    • pp.173-177
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    • 2005
  • YMDD motif mutants of the hepatitis B virus(HBV) emerge in chronic hepatitis B patients after prolonged lamivudine treatment. HBV DNA breakthrough may be accompained by the emergence of YMDD mutants. We compared the performance of the sequencing method with that of RFMP method in chronic hepatitis B patients who had suffered the HBV DNA breakthrough after lamivudine treatment. Both sequencing and RFMP methods were used to detect YMDD variants in 20 chronic hepatitis B patients. YMDD mutants were detected in 17 samples (85.0%) by both methods. Among them, no mutants were detected in two samples(10.0%), while they were detected in the other sample(5.0%) with the RFMP method. The concordance rate between both methods was 95.0%. There was inconsistency in one sample showing mutants detected by the RFMP method, but not by sequencing method. In the sequencing method, the mutants was detected in the major type virus, but not in the minor type virus. However, both sequencing and RFMP methods were highly concordant except in one sample, so it is suggested that both methods are useful to detect YMDD mutants of chronic hepatitis B patients.

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Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

  • Algahtani, Hussein;Shirah, Bader;Alsaggaf, Khalid;Al-Qahtani, Mohammad H.;Abdulkareem, Angham Abdulrahman;Naseer, Muhammad Imran;Abuzinadah, Ahmad R.
    • Journal of Genetic Medicine
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    • 제18권2호
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    • pp.121-126
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    • 2021
  • Chronic progressive external ophthalmoplegia (CPEO) is a complex slowly progressive mitochondrial disorder characterized by extraocular muscle weakness with or without multisystem involvement. The mainstay of therapy in a patient with CPEO is supportive. However, in moderate cases, surgery might be indicated including surgeries for ptosis and strabismus. In this article, we report a Saudi patient with CPEO due to compound heterozygous variants in the DNA polymerase gamma (POLG) gene c.2246T>C p.(Phe749Ser) and c.1735C>T p.(Arg579Trp), which are classified as pathogenic. Proper diagnosis with genetic testing confirmation is important to guide the management and counsel the patient about the prognosis and the management options. The patient was successfully managed with bilateral frontalis sling and illustrates the importance of surgical intervention to improve vision and cosmetic appearance in patients with CPEO. We emphasize the importance of multidisciplinary care in the management of cases of mitochondriopathy, especially CPEO.

Genetic Diversity of Metallo-β-lactamase Genes of Chryseobacterium indologenes Isolates from Korea

  • Yum, Jong Hwa
    • 대한의생명과학회지
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    • 제25권3호
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    • pp.275-281
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    • 2019
  • This study was performed to characterize the chromosomal metallo-${\beta}$-lactamases (MBLs) of Chryseobacterium indologenes isolated from Korea and to propose a clustering method of IND MBLs based on their amino acid similarities. Chromosomal MBL genes were amplified by PCR from 31 clinical isolates of E. indologenes. Nucleotide sequencing was performed by the dideoxy chain termination method using these PCR products. Antimicrobial susceptibilities were determined by the agar dilution method. PCR experiments showed that all 31 E. indologenes isolates contained all $bla_{IND}$ genes. DNA sequence analysis revealed that E. indologenes isolates possessed ten types of $bla_{IND}$ gene, including seven novel variants ($bla_{IND-8}$ to $bla_{IND-14}$). The most common combination of MBL was IND-2 (n = 18). Minimum inhibitory concentrations of imipenem and meropenem for the isolates harboring novel IND MBLs were ${\geq}16{\mu}g/mL$. IND MBLs were grouped in three clusters, based on amino acid similarities.

Insight into Norfloxacin Resistance of Acinetobacter oleivorans DR1: Target Gene Mutation, Persister, and RNA-Seq Analyses

  • Kim, Jisun;Noh, Jaemin;Park, Woojun
    • Journal of Microbiology and Biotechnology
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    • 제23권9호
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    • pp.1293-1303
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    • 2013
  • Antibiotic resistance of soilborne Acinetobacter species has been poorly explored. In this study, norfloxacin resistance of a soil bacterium, Acinetobacter oleivorans DR1, was investigated. The frequencies of mutant appearance of all tested non-pathogenic Acinetobacter strains were lower than those of pathogenic strains under minimum inhibitory concentration (MIC). When the quinolone-resistance-determining region of the gyrA gene was examined, only one mutant (His78Asn) out of 10 resistant variants had a mutation. Whole transcriptome analysis using a RNA-Seq demonstrated that genes involved in SOS response and DNA repair were significantly up-regulated by norfloxacin. Determining the MICs of survival cells after norfloxacin treatment confirmed some of those cells were indeed persister cells. Ten colonies, randomly selected from among those that survived in the presence of norfloxacin, did not exhibit increased MIC. Thus, both the low mutation frequency of the target gene and SOS response under norfloxacin suggested that persister formation might contribute to the resistance of DR1 against norfloxacin. The persister frequency increased without a change in MIC when stationary phase cells, low growth rates conditions, and growth-deficient dnaJ mutant were used. Taken together, our comprehensive approach, which included mutational analysis of the target gene, persister formation assays, and RNA sequencing, indicated that DR1 survival when exposed to norfloxacin is related not only to target gene mutation but also to persister formation, possibly through up-regulation of the SOS response and DNA repair genes.

Detection of DNA Instability Induced from Tissue Culture and Irradiation in Oryza sativa L. by RAPD Analysis

  • Kim, Dong-Sub;Lee, In-Sok;Hyun, Do-Yoon;Jang, Cheol-Seong;Song, Hi-Sup;Seo, Yong-Weon;Lee, Young-Il
    • Journal of Plant Biotechnology
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    • 제5권1호
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    • pp.25-31
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    • 2003
  • As a consequence of tissue culture of rice, RAPD analysis was peformed to determine whether extended culture periods as undifferentiated calli affected the subsequent genetic constancy, and whether any resulting DNA rearrangements could be detected between sibling plants produced from the same callus. Somaclonal variation was induced at the initial stage of tissue culture and it increased with the length of culture maintenance. Of the 192 total bands, the number of polymorphic bands was 22 (11.5%), 33 (17.2%), and 49 (25.5%) in the callus of 1,3, and 6 months culture, respectively. A significantly higher level of genotypic polymorphisms between regenerants from two different somaclones was also detected, although all the regenerants were derived from a single genotype. In comparison of DNA polymorphisms between regenerants from non-irradiated and from irradiated calli, a scope of variation spectrum by gamma ray irradiation was larger than that by tissue culture. Consideration must be given to this genomic variation where attempts are to be made to use desirable somaclonal variants for plant breeding purpose and in genetic engineering program.

Variation in trn-L/trn-V and trn-F/trn-T spacer regions of cpDNA in Abies koreana Wilson and A. nephrolepis Traut./Maxim

  • Kormutak, A.;Hong, Y.-P.;Kwon, H.-Y.;Kim, C.-S.
    • 한국산림과학회지
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    • 제96권2호
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    • pp.131-137
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    • 2007
  • The first evidence has been provided about the variation within trnL-trnV and trnF-trnT spacer regions of cpDNAs in Korean fir and Manchurian fir, revealed by PCR-RFLP analysis. Four cpDNA haplotypes have accordingly been recognized by being analyzed using the trnL-trnV/Tru11 primer-enzyme combination and 3 haplotypes using the trnF-trnT/TagI combination, which exhibited inter and intraspecific variation. A total of 6 cpDNA haplotypes were recognized by pooling the PCR-RFLP variants observed in both combinations. Haplotypes 2 and 3 were common for both species investigated, whereas haplotypes 1, 4, and 5 were detected only in Korean fir and haplotype 6 was detected only in Manchurian fir. Although haplotypes 2 and 3 were common in both species, haplotype 2 was major haplotype for Korean fir and haplotype 3 was one of the 2 major haplotypes for Manchurian fir. Restricted occurrence of haplotype 4 in Mt. Halla and haplotype 5 in Mt. Jiri of the Korean fir may represent the existence of geographic isolation by the sea between them. Diagnostic potential of individual haplotypes in discriminating between the two species as well as between their populations is discussed.

Phylogenetic placement of thermophilic ammonium-tolerant bacteria and their distribution in various composts

  • Kazutaka Kuroda
    • Animal Bioscience
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    • 제36권4호
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    • pp.671-678
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    • 2023
  • Objective: Previous studies isolated the thermophilic ammonium-tolerant (TAT) bacterium Bacillus sp. TAT105 that grew in composting swine manure with the assimilation of ammonium nitrogen and reduced ammonia emissions during composting. Those studies also investigated the potential for applications of TAT105 to composting. It was observed that the concentration of TAT bacteria, phylogenetically close to TAT105, increased during composting. The objectives of this study were to identify the phylogenetic placement of these TAT bacteria and investigate their distribution in various composts. Methods: The phylogenetic placement of TAT105 was examined based on the sequence of 16S ribosomal RNA gene. The genomic DNA homology between TAT105 and the type strains of bacterial species that were phylogenetically close to TAT105 were examined by DNA-DNA hybridization. Moreover, the tolerances of these strains to NH4Cl and NaCl were analyzed using a cultivation method. Concentrations of TAT bacteria in various composts were evaluated using an agar medium specific to TAT bacteria and polymerase chain reaction followed by restriction fragment length polymorphism analysis. Results: TAT105 was most closely related to Bacillus thermolactis and Bacillus kokeshiiformis. Many variants of these species have been detected in various environments, including composts. The type strains of these species displayed TAT characteristics that were similar to those of TAT105. Among the composts examined in this study, TAT bacteria were detected at high concentrations (105 to 109 colony forming units per gram of dry matter) in most of the composts made from cattle manure, swine manure, bark, and excess sludge. Conclusion: TAT bacteria comprised B. thermolactis, B. kokeshiiformis, and their phylogenetically close relatives. They were considered to be adaptable to composting of some certain materials, and a favorable target for searching for strains with some useful function that could be applied to composting of these materials.