• Title, Summary, Keyword: mutation

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Identification of DNA Methylation Markers for NSCLC Using Hpall-Mspl Methylation Microarray (Hpall-Mspl Methylation Microarray를 이용한 비소세포폐암의 DNA Methylation Marker 발굴)

  • Kwon, Mi Hye;Lee, Go Eun;Kwon, Sun Jung;Choi, Eugene;Na, Moon Jun;Cho, Hyun Min;Kim, Young Jin;Sul, Hye Jung;Cho, Young Jun;Son, Ji Woong
    • Tuberculosis and Respiratory Diseases
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    • v.65 no.6
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    • pp.495-503
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    • 2008
  • Background: Epigenetic alterations in certain genes are now known as at least important as genetic mutation in pathogenesis of cancer. Especially abnormal hypermethylation in or near promoter region of tumor suppressor genes (TSGs) are known to result in gene silencing and loss of gene function eventually. The authors tried to search for new lung cancer-specific TSGs which have CpG islands and HpaII sites, and are thought to be involved in carcinogenesis by epigenetic mechanism. Methods: Tumor tissue and corresponding adjacent normal tissue were obtained from 10 patients who diagnosed with non small cell lung cancer (NSCLC) and underwent surgery in Konyang university hospital in 2005. Methylation profiles of promoter region of 21 genes in tumor tissue & non-tumor tissue were examined with HpaII-MspI methylation microarray (Methyl-Scan DNA chip$^{(R)}$, Genomic tree, Inc, South Korea). The rates of hypermethylation were compared in tumor and non-tumor group, and as a normal control, we obtained lung tissue from two young patients with pneumothorax during bullectomies, methylation profiles were examined in the same way. Results: Among the 21 genes, 10 genes were commonly methylated in tumor, non-tumor, and control group. The 6 genes of APC, AR, RAR-b, HTR1B, EPHA3, and CFTR, among the rest of 11 genes were not methylated in control, and more frequently hypermethylated in tumor tissue than non-tumor tissue. Conclusion: In the present study, HTR1B, EPHA3, and CFTR are suggested as possible novel TSGs of NSCLC by epigenetic mechanism.

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.

Association of SNPs from iNOS and TLR-4 Genes with Economic Trait in Chicken (닭의 iNOS와 TLR-4 유전자 내 변이와 경제 형질 간의 연관성 분석)

  • Lim, Hee Kyong;Han, Jung-Min;Oh, Jae Don;Lee, Hak Kyo;Jeon, Gwang Joo;Lee, Jun Heon;Seo, Dong Won;Cahyadi, Muhammad;Song, Ki Duk;Choi, Kang Duk;Kong, Hong Sik
    • Korean Journal of Poultry Science
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    • v.40 no.2
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    • pp.83-89
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    • 2013
  • iNOS (Inducible nitric oxide synthase) and TLR-4 (Toll-like Receptor-4) play crucial roles in innate immunity of poultry. iNOS has been mapped to chicken chromosome 14 and implicated in a variety of chicken diseases. iNOS possesses potent antimicrobial activity, including the inhibition of microbes replication in vitro. TLR-4 is a pathogen associated molecular-pattern receptor for bacterial product, such as LPS (lipopolysaccharides) found in Gram negative bacteria, that triggers pro-inflammatory cytokine expression after engagement with ligands. In the previous studies, genetic analysis of iNOS and TLR-4 revealed the possible association of mutation in these genes with the intestinal microflora of cecum when infected with Salmonella spp. This study was aimed to augment previous findings, which show the association of iNOS (C14513T) and TLR-4 (G4409T) polymorphisms with economic traits in Korean Native Black (KNB), Rhode Island Red (RIR) and Cornish chickens. Investigation in the effect of SNPs on economic traits (layday, layw, layno, bw150, bw270, layw270) was conducted. iNOS (C14513T) had a significant effect on the average body weight at 270 days of age (p<0.05) in both KNB and RIR, whereas TLR-4 (G4409T) showed no significant correlation with all traits (p>0.05). The results obtained from using the candidate genes can be useful for the genetic improvement of body weight in both KNB and RIR breeds.

Genetic Variations of Chicken MC1R Gene and Associations with Feather Color of Korean Native Chicken (KNC) 'Woorimatdag' (토종 '우리맛닭' 부계 및 실용계에서 MC1R 유전자 변이 및 모색과의 연관성 분석)

  • Park, Mi Na;Kim, Tae-Hun;Lee, Hyun-Jeong;Choi, Jin Ae;Heo, Kang-Nyeong;Kim, Chong-Dae;Choo, Hyo-Jun;Han, Jae-Yong;Lee, Taeheon;Lee, Jun-Heon;Lee, Kyung-Tai
    • Korean Journal of Poultry Science
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    • v.40 no.2
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    • pp.139-145
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    • 2013
  • There are several loci controlling the feather color of birds, of which one of the most studied is Extended black (E) encoding the melanocortin 1-receptor (MC1R). Mutations in this gene affect the relative distribution of eumelanin, phaeomelanin. The association of feather color and sequence polymorphism in the melanocortin 1-receptor (MC1R) gene was investigated using Korean native chicken H breed (H_PL) and 'Woorimatdag' commercial chickens (Woorimatdag_CC). In order to correlate gene mutation to Korean native chicken feather color, single nucleotide polymorphism (SNP) from MC1R gene sequence were investigated. A total of 307 birds from H_PL and Woorimatdag_CC were used. H_PL have black, black-brown feather color and Woorimatdag_CC have black with brown spots or brown with black spots. There are 6 SNPs in MC1R gene, locus T69C, C212T, A274G, G376A, G636A, T637C. 3 SNPs are nonsynonymous that change amino acid. But it is difficult to find correlation of feather color and polymorphisms. It will be needed to increase the population of Korean native chicken H breed and correlation analysis of genetic variation with feather colors.

The Result of Bone Grafting for Fibrous Dysplasia (섬유성 골 이형성증에서 시행한 골 이식술의 결과 분석)

  • Jeong, Won-Ju;Kim, Tae-Seong;Cho, Hwan-Seong;Yoon, Jong-Pil;Park, Il-Hyung
    • The Journal of the Korean bone and joint tumor society
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    • v.20 no.2
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    • pp.74-79
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    • 2014
  • Purpose: Fibrous dysplasia is related to the mutation of gene encoding the alpha-subunit of a signal-transducing G-protein and has variable clinical course. Operation can be performed to prevent functional disorder or structural deformity. After curettage, autologous bone graft were used to fill the defects after curettage. The aim of this study is to compare the result of autogenous cancellous bone grafting and allogenic bone grafting for fibrous dysplasia. Materials and Methods: Among the patients who visit our hospital during the period of April, 1997 to October, 2013, we selected 34 patients who diagnosed fibrous dysplasia and visited our clinic over 1 year. There were 13 males and 21 females. Average age was 26.4 (range 2 to 57) years old. Autogenous bone graft (group I) in 5 cases, Non-autogenous bone graft (group II) in 30 cases. Iliac bone is used in all cases of autogenous bone graft. There were no significant difference in age, follow-up period, preoperational laboratory finding between two groups. Radiographic image was done to evaluate the recurrence of fibrous dysplasia or secondary degeneration. Results: There were four cases in recurrence (group I: 1 case, group II: 3 cases, p=0.554). In all recurrent cases, reoperations were done using curettage and autogenous iliac bone graft. There was no re-recurrence after reoperation. One case of secondary aneurysmal bone cyst was confirmed (group II) and 1 cases of pathologic fractures had developed (group I: 0 case, group II: 1 cases, p=0.559). No malignant change occurred. Conclusion: There were no significant difference between autogenous bone graft group and non-autogenous bone graft group. Our result suggested that autogenous bone graft seems to be good method to treat fibrous dysplasia, in the case of small volume of tumor lesion or non-weight bearing portion.

Clinical findings of Glycogen Disease Type Ia Patients in Korea (당원병 제 Ia형 환아들의 임상적 고찰)

  • Park, Minju;Ahn, Hee Jae;Le, Jeongho;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.2
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    • pp.142-149
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    • 2014
  • Purpose: There are 15 types of Glycogen storage disease (GSD) that have been identified, and GSD type Ia is the most common type. There are several studies of Korean GSD type Ia patients' long-term complications. The aim of this study to find out clinical symptoms and prognosis of GSD type Ia patients. Methods: We performed clinical, biochemical and genetic analysis retrospectively on five patients diagnosed with GSD type Ia in a Soonchunhyang University Hospital from July 2002 to July 2014. Results: All patients had hepatomegaly at diagnosis, and they were all confirmed to have fatty liver at abdomen USG. They had no developmental delay, but two of them had growth retardation. Elevated blood lactate, triglyceride, and uric acid levels can find out all patients, but only one patient had hypoglycemia. They are diagnosed with GSD through gene analysis, and by gene analysis, they have c.648G>T (homozygote, splicing mutation), c.122G>A/c.648G>T, c.248G>A/c.648G>T mutations. Treatment with three times meals, three times snacks and four to six times use of uncooked constarch for all patients. Following the progress, one of them resulted in hypothyroidism, other one had renal stones. A patient diagnosed at 16 years old had liver cirrhosis and started having hemodialysis for ESRD. Conclusion: GSD type Ia patients had hepatomegaly, hyperlipidemia, hyperuricemia, and lactacidemia. Therefore patients who have such these symptoms are recommended gene analysis. A patient diagnosed at 16-years-old had liver cirrhosis and ESRD in progress, early diagnosis and treatment are important for GSD type Ia patients.

Production of Red-spotted Grouper Nervous Necrosis Virus (RGNNV) Capsid Protein Using Saccharomyces cerevisiae Surface Display (Saccharomyces cerevisiae 표면 발현을 이용한 붉바리 신경괴사 바이러스 외피단백질의 생산)

  • Park, Mirye;Suh, Sung-Suk;Hwang, Jinik;Kim, Donggiun;Park, Jongbum;Chung, Young-Jae;Lee, Taek-Kyun
    • Journal of Life Science
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    • v.24 no.9
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    • pp.995-1000
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    • 2014
  • The studies of marine viruses in terms of viral isolation and detection have been limited due to the high mutation rate and genetic diversity of marine viruses. Of the modern methods currently used to detect marine viruses, serological methods based on enzyme-linked immunosorbent assay (ELISA) are the most common. They depend largely on the quality of the antibodies and on highly purified suitable antigens. Recently, a new experimental system for using viral capsid protein as an antigen has been developed using the yeast surface display (YSD) technique. In the present study, the capsid protein gene of the red-spotted grouper nervous necrosis virus (RGNNV) was expressed and purified via YSD and HA-tagging systems, respectively. Two regions of the RGNNV capsid protein gene, RGNNV1 and RGNNV2, were individually synthesized and subcloned into a yeast expression vector, pCTCON. The expressions of each RGNNV capsid protein in the Saccharomyces cerevisiae strain EBY100 were indirectly detected by flow cytometry with fluorescently labeled antibodies, while recognizing the C-terminal c-myc tags encoded by the display vector. The expressed RGNNV capsid proteins were isolated from the yeast surface through the cleavage of the disulfide bond between the Aga1 and Aga2 proteins after ${\beta}$-mercaptoethanol treatment, and they were directly detected by Western blot using anti-HA antibody. These results indicated that YSD and HA-tagging systems could be applicable to the expressions and purification of recombinant RGNNV capsid proteins.

Resistance Determinants and Antimicrobial Susceptibilities of Mupirocin-Resistant Staphylococci Isolated from a Korean Hospital (국내 한 대학병원에서 수집된 Mupirocin 내성 포도알균의 내성 유전자 및 항생물질 감수성 분석)

  • Min, Yu-Hong;Lee, Jong-Seo;Kwon, Ae-Ran;Shim, Mi-Ja;Choi, Eung-Chil
    • Korean Journal of Microbiology
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    • v.48 no.2
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    • pp.93-101
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    • 2012
  • We analyzed mupirocin resistance rates among staphylococcal isolates collected from a Korean hospital in 2003 (100 isolates), 2005 (195 isolates), 2006 (151 isolates), and 2009 (112 isolates). In Staphylococcus aureus, rates of high-level mupirocin resistance (MIC, minimal inhibitory concentration ${\geq}512{\mu}g/ml$) decreased and did not appear since 2005. In contrast, low-level mupirocin resistance (MIC $8-256{\mu}g/ml$) was not detected in 2003 and 2005 but its rates later increased to 6.9% in 2009. Total resistance rates of coagulase-negative staphylococci (CNS) were significantly higher than those of S. aureus. The rates of high-level resistance of CNS increased from 16.0% in 2003 to 31.5% in 2009. The rate of low-level resistance of CNS was 8.0% in 2003 and around 11% later. In all high-level resistant isolates, the ileS-2 gene was detected. All low-level resistant isolates contained the known V588F mutation in ileS gene. Previously unknown mutations such as V458G in S. aureus and D172A, Y490H and I750V in CNS were identified additionally. One S. aureus isolate with high-level resistance was resistant to oxacillin and several topical antibiotics commonly used for the treatment of skin infection. Ten S. aureus isolates with low-level resistance were also resistant to all of these antibiotics except fusidic acid. CNS isolates with high-level (61 isolates) and low-level resistance (27 isolates) exhibited significantly higher resistance rates to these antibiotics than mupirocin-susceptible CNS isolates (167 isolates). In conclusion, prevention of the emergence of mupirocin resistance is necessary for the effective treatment of skin infection by staphylococci.

Enhancing the Enzymatic Activity of the Multifunctional β-Glycosyl Hydrolase (Cel44C-Man26AP558) from Paenibacillus polymyxa GS01 Using DNA Shuffling (DNA Shuffling을 이용한 Paenibacillus polymyxa GS01의 다기능 β-Glycosyl Hydrolase (Cel44C-Man26AP558) 효소 활성 증가)

  • Kang, Young-Min;Kang, Tae-Ho;Yun, Han-Dae;Cho, Kye-Man
    • Korean Journal of Microbiology
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    • v.48 no.2
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    • pp.73-78
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    • 2012
  • We previously reported that the truncated Cel44C-$Man26A_{P558}$ ${\beta}$-glycosyl hydrolase protein exhibits multifunctional activities, including cellulase, xylanase, and lichenase. DNA shuffling of the truncated Cel44C-$Man26A_{P558}$ enzyme was performed to enhance the enzymatic activity of the multifunctional ${\beta}$-glycosyl hydrolase. Two mutant enzymes, M2Cel44C-$Man26A_{P558}$ that carries one mutation (P438A) and M21Cel44C-$Man26A_{P558}$ that carries two mutations (A273T and P438A) were obtained. The enzymatic activity of the M21Cel44C-$Man26A_{P558}$ double mutant was lower than enzymatic activity of the single mutant (M2Cel44C-$Man26A_{P558}$). However, both mutants displayed the enhancements in their enzyme activities that were ${\approx}1.3$- to 2.2-fold higher than the original enzymatic activity in Cel44C-$Man26A_{P558}$. In particular, the mutant M2Cel44C-$Man26A_{P558}$ exhibited an approximate 1.5- to 2.2-fold increase in the cellulase, xylanase, and lichenase activities in comparison with the control (Cel44C-$Man26A_{P558}$). The optimum cellulase, linchenase, and xylanase activities of ${\beta}$-glycosyl hydrolase were observed at pH 7.0, pH 7.0 and pH 6.0, respectively. These results, therefore, suggest that the amino acid residue Ala438 plays important roles in the enhancement of the activity of multifunctional ${\beta}$-glycosyl hydrolase.

The Effects of Plant Growth Regulators on Plant Regeneration and Direct Shoots Formation of Petal Explants of Chrysanthemum Flower Color Mutants Varieties, 'ARTI-purple' and 'ARTI-queen' (국화 화색 돌연변이 품종 'ARTI-purple' 및 'ARTI-queen' 꽃잎 조직의 재분화와 신초형성에 미치는 식물생장호르몬의 영향)

  • Lee, Yu-Mi;Kang, Eun Jeong;Sung, Sang Yeop;Kim, Sang Hoon;Ha, Bo-Keun;Kim, Dong Sub;Kim, Jin-Baek;Kang, Si-Yong
    • Horticultural Science & Technology
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    • v.31 no.3
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    • pp.359-365
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    • 2013
  • Chrysanthemum is one of the most popular ornamental plants worldwide. Recently, lots of new and novel chrysanthemum varieties have been developed using mutagenesis. However, there was no study for comparison of tissue culture condition among the mutant varieties derived from one original variety, until now. This study was conducted to compare the efficient regeneration condition of the two chrysanthemum mutant varieties, 'ARTI-purple' and 'ARTI-queen'. Two different flower parts (disk and ray florets) at the unopened and early blooming stages were used for comparison of regeneration condition on MS medium supplemented with combinations of three growth regulators (BA, NAA, and IAA). The highest regeneration rate was identified on the NAA and BA combination when the disk florets at unopened blooming stage are used. The best optimum combinations of growth regulators were identified as NAA $1.0mg{\cdot}L^{-1}$ and BA $0.5mg{\cdot}L^{-1}$ at 'ARTI-purple', which displayed 47.9% regeneration. However, regeneration of 'ARTI-queen' was the highest as 25.6% at NAA $2.0mg{\cdot}L^{-1}$ and BA $1.0mg{\cdot}L^{-1}$. There results indicate that there is a difference for the optimum regeneration condition between the mutant varieties derived from one original variety. These results will be useful for construction of efficient regeneration system of diverse chrysanthemum mutants developed by mutation breeding.