• Title/Summary/Keyword: Mutation analysis

Search Result 923, Processing Time 0.022 seconds

Identification of Domesticated Silkworm Varieties Using a Whole Genome Single Nucleotide Polymorphisms-based Decision Tree (전장유전체 SNP 기반 decision tree를 이용한 누에 품종 판별)

  • Park, Jong Woo;Park, Jeong Sun;Jeong, Chan Young;Kwon, Hyeok Gyu;Kang, Sang Kuk;Kim, Seong-Wan;Kim, Nam-Suk;Kim, Kee Young;Kim, Iksoo
    • Journal of Life Science
    • /
    • v.32 no.12
    • /
    • pp.947-955
    • /
    • 2022
  • Silkworms, which have recently shown promise as functional health foods, show functional differences between varieties; therefore, the need for variety identification is emerging. In this study, we analyzed the whole silkworm genome to identify 10 unique silkworm varieties (Baekhwang, Baekok, Daebaek, Daebak, Daehwang, Goldensilk, Hansaeng, Joohwang, Kumkang, and Kumok) using single nucleotide polymorphisms (SNP) present in the genome as biomarkers. In addition, nine SNPs were selected to discriminate between varieties by selecting SNPs specific to each variety. We subsequently created a decision tree capable of cross-verifying each variety and classifying the varieties through sequential analysis. Restriction fragment length polymorphism (RFLP) was used for SNP867 and SNP9183 to differentiate between the varieties of Daehwang and Goldensilk and between Kumkang and Daebak, respectively. A tetra-primer amplification refractory (T-ARMS) mutation was used to analyze the remaining SNPs. As a result, we could isolate the same group or select an individual variety using the nine unique SNPs from SNP780 to SNP9183. Furthermore, nucleotide sequence analysis for the region confirmed that the alleles were identical. In conclusion, our results show that combining SNP analysis of the whole silkworm genome with the decision tree is of high value as a discriminative marker for classifying silkworm varieties.

The miR-146a rs2910164 G > C Polymorphism and Susceptibility to Digestive Cancer in Chinese

  • Wu, Dong;Wang, Fan;Dai, Wei-Qi;He, Lei;Lu, Jie;Xu, Ling;Guo, Chuan-Yong
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.14 no.1
    • /
    • pp.399-403
    • /
    • 2013
  • Background: Several studies have reported the role of the miR-146a rs2910164 G > C polymorphism as a susceptibility factor for several digestive cancers. However, the results have been controversial. Therefore, we conducted the present meta-analysis to obtain the most reliable estimate of the association. Methods: PubMed, Embase and Web of Science databases were searched. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were extracted and pooled to assess the strength of the association between miR-146a rs2910164 G > C polymorphism and digestive cancer risk. A total of four eligible studies including 3,447 cases and 5,041 controls based on the search criteria were included. Results: We observed that miR-146a rs2910164 G > C polymorphism was not significantly correlated with digestive cancer risks when all studies were pooled into the meta-analysis. While we found that miR-146a rs2910164 polymorphism was not associated with gastric cancer, it was significantly linked with hepatocellular cancer risk (the homozygote codominant model: OR = 1.40, 95% CI = 1.04-1.87). In the stratified analysis by ethnicity, significant associations were observed in Chinese population for the allele contrast model (OR = 1.25; 95% CI = 1.12-1.38), for the homozygote codominant model (OR = 1.62; 95% CI = 1.28-2.04), and for the recessive model (OR = 1.38; 95% CI = 1.16-1.64). However, studies with Asian groups presented no significant association for all genetic models. Conclusions: This meta-analysis suggests that the miR-146a rs2910164 G > C polymorphism is a low-penetrant risk factor for digestive cancers in Chinese.

Time-course Analysis of Biofilm Formation in Quorum Sensing-deficient Bacteria (Quorum sensing 결핍 세균에서 생물막 형성의 시간적 추이 분석)

  • Kim, Soo-Kyoung;Lee, Mi-Nan;Lee, Joon-Hee
    • Korean Journal of Microbiology
    • /
    • v.50 no.2
    • /
    • pp.108-113
    • /
    • 2014
  • Pseudomonas aeruginosa and Vibrio vulnificus are Gram-negative human pathogens, which exert their virulence through quorum sensing (QS) regulation. The infection of these pathogens have been known to be mediated by biofilm formation in many cases and this study carried out the time-course analysis of biofilm formation depending on the QS regulation in P. aeruginosa and V. vulnificus. In P. aeruginosa, our results demonstrated that QS-deficient mutant better attached to surface at initial stage of biofilm formation, but poorly proceeded to the maturation of the biofilm structure, while wild type less attached at initial stage but developed highly structured biofilm at late stage. Because of this, the quantitative comparison of biofilm formation between wild type and the QS mutant showed the reversion; the QS mutant formed more biofilm until 10 h after inoculation than wild type, but wild type formed much more biofilm after 10 h than QS mutant. V. vulnificus has been reported to form more biofilm with the mutation on QS system. When we performed the same time-course analysis of the V. vulnificus biofilm formation, the reversion was not detected even with prolonged culture for 108 h and the QS mutant always forms more biofilm than wild type. These results indicate that the QS regulation negatively affects the attachment at early stage but positively facilitates the biofilm maturation at late stage in P. aeruginosa, while the QS regulation has a negative effect on the biofilm formation throughout the biofilm development in V. vulnificus. Based on our results, we suggest that the developmental stage of biofilm and bacterial species should be considered when the QS system is targeted for biofilm control.

Biochemical Analysis of Interaction between Kringle Domains of Plasminogen and Prion Proteins with Q167R Mutation

  • Lee, Jeongmin;Lee, Byoung Woo;Kang, Hae-Eun;Choe, Kevine K.;Kwon, Moosik;Ryou, Chongsuk
    • Journal of Microbiology and Biotechnology
    • /
    • v.27 no.5
    • /
    • pp.1023-1031
    • /
    • 2017
  • The conformational change of cellular prion protein ($PrP^C$) to its misfolded counterpart, termed $PrP^{Sc}$, is mediated by a hypothesized cellular cofactor. This cofactor is believed to interact directly with certain amino acid residues of $PrP^C$. When these are mutated into cationic amino acid residues, $PrP^{Sc}$ formation and prion replication halt in a dominant negative (DN) manner, presumably due to strong binding of the cofactor to mutated $PrP^C$, designated as DN PrP mutants. Previous studies demonstrated that plasminogen and its kringle domains bind to PrP and accelerate $PrP^{Sc}$ generation. In this study, in vitro binding analysis of kringle domains of plasminogen to Q167R DN mutant PrP (PrPQ167R) was performed in parallel with the wild type (WT) and Q218K DN mutant PrP (PrPQ218K). The binding affinity of PrPQ167R was higher than that of WT PrP, but lower than that of PrPQ218K. Scatchard analysis further indicated that, like PrPQ218K and WT PrP, PrPQ167R interaction with plasminogen occurred at multiple sites, suggesting cooperativity in this interaction. Competitive binding analysis using $\small{L}$-lysine or $\small{L}$-arginine confirmed the increase of the specificity and binding affinity of the interaction as PrP acquired DN mutations. Circular dichroism spectroscopy demonstrated that the recombinant PrPs used in this study retained the ${\alpha}$-helix-rich structure. The ${\alpha}$-helix unfolding study revealed similar conformational stability for WT and DN-mutated PrPs. This study provides an additional piece of biochemical evidence concerning the interaction of plasminogen with DN mutant PrPs.

Sensitive High-Resolution Melting Analysis for Screening of KRAS and BRAF Mutations in Iranian Human Metastatic Colorectal Cancers

  • Niya, Mohammad Hadi Karbalaie;Basi, Ali;Koochak, Aghigh;Tameshkel, Fahimeh Safarnezhad;Rakhshani, Nasser;Zamani, Farhad;Imanzade, Farid;Rezvani, Hamid;Adib sereshki, Mohammad Mahdi;Sohrabi, Masoud Reza
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.17 no.12
    • /
    • pp.5147-5152
    • /
    • 2016
  • Background: Investigations of methods for detection of mutations have uncovered major weaknesses of direct sequencing and pyrosequencing, with their high costs and low sensitivity in screening for both known and unknown mutations. High resolution melting (HRM) analysis is an alternative tool for the rapid detection of mutations. Here we describe the accuracy of HRM in screening for KRAS and BRAF mutations in metastatic colorectal cancer (mCRCs) samples. Materials and Methods: A total of 1000 mCRC patients in Mehr Hospital, Tehran, Iran, from Feb 2008 to May 2012 were examined for KRAS mutations and 242 of them were selected for further assessment of BRAF mutations by HRM analysis. In order to calculate the sensitivity and specificity, HRM results were checked by pyrosequencing as the golden standard and Dxs Therascreen as a further method. Results: In the total of 1,000 participants, there were 664 (66.4%) with wild type and 336 (33.6%) with mutant codons 12 and/or 13 of the KRAS gene. Among 242 samples randomly checked for the BRAF gene, all were wild type by HRM. Pyrosequencing and Dxs Therascreen results were in line with those of the HRM. In this regard, the sensitivity and specificity of HRM were evaluated as 100%. Conclusion: The findings suggest that the HRM, in comparison with DNA sequencing, is a more appropriate method for precise scanning of KRAS and BRAF mutations. It is also possible to state that HRM may be an attractive technique for the detection of known or unknown somatic mutations in other genes.

Genetic Programming based Manufacutring Big Data Analytics (유전 프로그래밍을 활용한 제조 빅데이터 분석 방법 연구)

  • Oh, Sanghoun;Ahn, Chang Wook
    • Smart Media Journal
    • /
    • v.9 no.3
    • /
    • pp.31-40
    • /
    • 2020
  • Currently, black-box-based machine learning algorithms are used to analyze big data in manufacturing. This algorithm has the advantage of having high analytical consistency, but has the disadvantage that it is difficult to interpret the analysis results. However, in the manufacturing industry, it is important to verify the basis of the results and the validity of deriving the analysis algorithms through analysis based on the manufacturing process principle. To overcome the limitation of explanatory power as a result of this machine learning algorithm, we propose a manufacturing big data analysis method using genetic programming. This algorithm is one of well-known evolutionary algorithms, which repeats evolutionary operators such as selection, crossover, mutation that mimic biological evolution to find the optimal solution. Then, the solution is expressed as a relationship between variables using mathematical symbols, and the solution with the highest explanatory power is finally selected. Through this, input and output variable relations are derived to formulate the results, so it is possible to interpret the intuitive manufacturing mechanism, and it is also possible to derive manufacturing principles that cannot be interpreted based on the relationship between variables represented by formulas. The proposed technique showed equal or superior performance as a result of comparing and analyzing performance with a typical machine learning algorithm. In the future, the possibility of using various manufacturing fields was verified through the technique.

Genetic Toxicity Test of o-Nitrotoluene by Ames, Micronucleus, Comet Assays and Microarray Analysis

  • Lee, Eun-Mi;Lee, So-Youn;Lee, Woo-Sun;Kang, Jin-Seok;Han, Eui-Sik;Go, Seo-Youn;Sheen, Yhun-Yong;Kim, Seung-Hee;Park, Sue-Nie
    • Molecular & Cellular Toxicology
    • /
    • v.3 no.2
    • /
    • pp.107-112
    • /
    • 2007
  • o-Nitrotoluene is used to synthesize artificial dyes and raw materials of urethane resin. In this study, we have carried out in vitro genetic toxicity tests and microarray analysis to understand the underlying mechanisms and the mode of action of toxicity of onitrotoluene. TA1535 and TA98 cells were treated with o-nitrotoluene to test its toxicity by basic genetic toxicity test. Ames and two new in vitro micronucleus and COMET assays were applied using CHO cells and L5178Y cells, respectively. In addition, microarray analysis of differentially expressed genes in L5178Y cells in response to o-nitrotoluene was analyzed using Affymatrix genechip. The result of Ames test was that o-nitrotoluene treatment did not increase the mutations both in base substitution strain TA1535 and in frame shift TA98. o-Nitrotoluene has not increased micronuclei in CHO cells. But onitrotoluene increased DNA damage in L5178Y cell. Two-hundred two genes were initially selected as differentially expressed genes in response to o-nitrotoluene by microarray analysis and forty four genes among them were over 2 times of log fold changed. These forty four genes could be candidate biomarkers of genetic toxic action of o-nitrotoluene related to induction of mutation and/or induction of micronuclei and DNA damage. Further confirmation of these candidate markers related to the DNA damage will be useful to understand the detailed mechanism of action of o-nitrotoluene.

Diagnostic Mutational Analysis of MECP2 in Korean patients with Rett syndrome

  • Kim, In-Joo;Kim, Yeon-Joo;Son, Byeong-Hee;Nam, Sang-Ook;Kang, Hoon-Chul;Kim, Heung-Dong;Choi, Ook-Hwan;Yoo, Mi-Ae;Kim, Cheol-Min
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.5 no.1
    • /
    • pp.48-56
    • /
    • 2005
  • Purpose: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000~15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl-CpG-binding protein). In this study, we carried out diagnostic mutational analysis of MECP2 gene in RTT patients. Methods: We analyzed four exons and putative promoter of MECP2 gene from the peripheral blood of 43 Korean patients with RTT by PCR-RFLP and direct sequencing. Results: Mutations were detected in MECP2 gene about 60.5% of patients. The mutations consisted of 14 different types including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, P385fsX409) were newly identified and these were determined as disease-causing mutations by PCR-RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified with high frequency. An intronic SNP (IVS3+23C>G) was newly identified in only three of the patients. It may be a disease-related and Korea-specific SNP with RTT. The L100V and A201V have been reported to be unclassified variant and SNP. However, these mutations were not found in more than 100 normal Korean control samples. These base substitutions seem to be the disease-causing mutations in Korean RTT contrary to previous studies. Conclusion: Disease-causing mutations and polymorphisms would be very important for diagnosing of RTT in Korean. The experimental procedure used in this study might be considered for molecular biologic diagnosis used in clinical field.

  • PDF

The mechanism of quinolone resistance in staphylococcus aureus

  • Lee, Youn Yeong;Kong, Jaeyang;Youngha Rhee;Kim Eun Hee
    • Korean Journal of Microbiology
    • /
    • v.30 no.5
    • /
    • pp.360-365
    • /
    • 1992
  • Clinical isolates of 8 ofloxacin resistant Staphylococcus auresu (ORSA) were subjected to MIC test, Southern analysis on gyrA locus and nucleotide sequence analysis of 290 bp of gyrA gene (gyrA-290) spanning amino acid 26 to 121 in order to understand the mechanism of quinolone resistance in Staphylococcus aureus. ORSAs showed highlevel resistance against quinolones (8-250 fold increase of MICs) and also significant resistance agianst ${\beta}-lactams$ (2-32 fold increase of MICs). However, ORSs did not show any change in sensitivity agianst vancomycin. Southern analysis of ORSAs with HindIII, PstI and AluI revealed RFLPs on gyrA locus. In order to further analyze the gyrA gene, gyrA-290 was amplified by PCR and cloned to pTZ vector. Subsequent nucleic acid sequence analysis of gyrA-290 demonstrated a point mutation of C to T resulting amino acid change of Ser-84 to Leu-84 in all 8 ORSA strains. The substitution at 84th amino acid of tyrase A might confer one mechanism of high level quinolone resistance in Staphylococcus aureus.

  • PDF

Selection of Appropriate Location for Civil Defense Shelters Using Genetic Algorithm and Network Analysis (유전자 알고리즘과 네트워크 분석을 활용한 민방위 대피시설 위치 선정)

  • Yoo, Suhong;Kim, Mi-Kyeong;Bae, Junsu;Sohn, Hong-Gyoo
    • Journal of the Korean Society of Surveying, Geodesy, Photogrammetry and Cartography
    • /
    • v.36 no.6
    • /
    • pp.573-580
    • /
    • 2018
  • Various studies have been conducted to analyze the location appropriateness and capacity of shelters. However, research on how to select new shelters is relatively insufficient. Since the shelter is designated in case of emergency, it is also necessary to efficiently select the location of the shelter. Therefore, this study presented a method for selecting the location of the shelter using network analysis that has been used to analyze the location appropriateness of shelters and genetic algorithm which is a representative heuristic algorithm. First, the network analysis using the existing civil defense evacuation facility data was performed and the result showed that the vulnerability of evacuation has a high deviation by region in the study area. In order to minimize the evacuation vulnerable area, the genetic algorithm was designed then the location of new shelters was determined. The initial solution consisting of candidate locations of new shelters was randomly generated and the optimal solution was found through the process of selection, crossover, and mutation. As a result of the experiment, the area with a high percentage of the evacuation vulnerable areas was prioritized and the effectiveness of the proposed method could be confirmed. The results of this study is expected to contribute to the positioning of new shelters and the establishment of an efficient evacuation plan in the future.