• Title/Summary/Keyword: Deletion method

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Direct Deletion Analysis in Two Duchenne Muscular Dystrophy Symptomatic Females Using Polymorphic Dinucleotide (CA)n Loci within the Dystrophin Gene

  • Giliberto, Florencia;Ferreiro, Veronica;Dalamon, Viviana;Surace, Ezequiel;Cotignola, Javier;Esperante, Sebastian;Borelina, Daniel;Baranzini, Sergio;Szijan, Irene
    • BMB Reports
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    • v.36 no.2
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    • pp.179-184
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    • 2003
  • Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease. It is inherited manifestations. In some rare cases, the disease can also be manifested in females. The aim of the present study was to determine the molecular alteration in two cases of nonrelated DMD symptomatic carriers with no previous history of DMD. Multiplex PCR is commonly used to search for deletion in the DMD gene of affected males. This method could not be used in females because the normal X chromosome masks the deletion of the mutated one. Therefor, we used a set of seven highly polymorphic dinucleotide $(CA)_n$ repeat markers that lie within the human dystrophin gene. The deletions were evidenced by hemizygosity of the loci under study. We localized a deletion in the locus 7A (intron 7) on the maternal X chromosome in one case, and a deletion in the region of introns 49 and 50 on the paternal X chromosome in the other. The use of microsatellite genotyping within the DMD gene enables the detection of the mutant allele in female carriers. It is also a useful method to provide DMD families with more accurate genetic counseling.

Analysis of the MVM P38 Promoter Distal DNA cis-Elements Responsible for Transactivation by Nonstructural Proteins

  • Kim, Yoo-Nha;Ahn, Jeong-Keun
    • BMB Reports
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    • v.29 no.5
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    • pp.468-473
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    • 1996
  • The P38 promoter of minute virus of mice (MVM) is a very weak promoter which is strongly transactivated by viral nonstructural proteins. To analyze the upstream sequence of the P38 promoter which is responsible for the transactivation by nonstructural proteins in MVM, chloramphenicol acetyltransferase (CAT) reporter plasm ids containing a series of 5' deletion and internal deletion mutants of the P38 promoter were constructed. The wild type and mutant CAT constructs of P38 promoter were cotransfected into murine A92L fibroblast cells with a plasmid expressing viral nonstructural proteins by DEAE-dextran method. Each promoter activity was analyzed by CAT assay. As previously reported (Ahn et al., 1992), the proximal DNA cis-elements required for transactivation of the MVM P38 promoter are GC box and TATA box. However, the analysis of 5' deletion mutants showed that H-l tar like sequence (MVM TAR) which is located between -143 and -122 relative to the transcription initiation site is also required for transactivation of the P38 promoter by nonstructural proteins. Interestingly, even if the MVM TAR was removed by internal deletion, the level of the transactivation is still 70% of wild type level of transactivation. We also found that, in addition to the MVM TAR motif, there are two other motifs which are similar to the MVM TAR sequence. When these TAR like motifs were further deleted, the levels of transactivation were decreased further. Taken together, the MVM TAR sequence and TAR like motifs located upstream of P38 promoter are playing an important role for the transactivation of P38 promoter by nonstructural proteins in minute virus of mice.

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Effects of spNab2 Deletion and Over-Expression on mRNA Export (분열효모에서 spNab2 유전자의 결실돌연변이 및 과발현에 대한 분석)

  • Yoon, Jin-Ho
    • Korean Journal of Microbiology
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    • v.45 no.4
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    • pp.300-305
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    • 2009
  • We constructed the deletion mutants of fission yeast Schizosaccharomyces pombe spNab2 gene that is homologous to poly(A)-binding protein NAB2 in budding yeast Saccharomyces cerevisiae, which plays crucial roles in mRNA 3' end formation and mRNA export from nucleus into the cytoplasm. A null mutant in an $h^+$/ $h^+$ diploid strain was constructed by replacing the spNab2-coding region with an $ura4^+$ gene using one-step gene disruption method. Tetrad analysis showed that the spNab2 is not essential for vegetative growth and mRNA export. However, over-expression of spNab2 cause the severe growth defects and intensive accumulation of poly(A) RNA in the nucleus. Also, the spNab2-GFP fusions were localized mainly in the nucleus. These results suggest that spNab2 is also involved in mRNA export out of the nucleus.

Effect of the pat, fk, stpk Gene Knock-out and mdh Gene Knock-in on Mannitol Production in Leuconostoc mesenteroides

  • Peng, Yu-Wei;Jin, Hong-Xing
    • Journal of Microbiology and Biotechnology
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    • v.28 no.12
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    • pp.2009-2018
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    • 2018
  • Leuconostoc mesenteroides can be used to produce mannitol by fermentation, but the mannitol productivity is not high. Therefore, in this study we modified the chromosome of Leuconostoc mesenteroides by genetic methods to obtain high-yield strains for mannitol production. In this study, gene knock-out strains and gene knock-in strains were constructed by a two-step homologous recombination method. The mannitol productivity of the pat gene (which encodes phosphate acetyltransferase) deletion strain (${\Delta}pat::amy$), the fk gene (which encodes fructokinase) deletion strain (${\Delta}fk::amy$) and the stpk gene (which encodes serine-threonine protein kinase) deletion strain (${\Delta}stpk::amy$) were all increased compared to the wild type, and the productivity of mannitol for each strain was 84.8%, 83.5% and 84.1%, respectively. The mannitol productivity of the mdh gene (which encodes mannitol dehydrogenase) knock-in strains (${\Delta}pat::mdh$, ${\Delta}fk::mdh$ and ${\Delta}stpk::mdh$) was increased to a higher level than that of the single-gene deletion strains, and the productivity of mannitol for each was 96.5%, 88% and 93.2%, respectively. The multi-mutant strain ${\Delta}dts{\Delta}ldh{\Delta}pat::mdh{\Delta}stpk::mdh{\Delta}fk::mdh$ had mannitol productivity of 97.3%. This work shows that multi-gene knock-out and gene knock-in strains have the greatest impact on mannitol production, with mannitol productivity of 97.3% and an increase of 24.7% over wild type. This study used the methods of gene knock-out and gene knock-in to genetically modify the chromosome of Leuconostoc mesenteroides. It is of great significance that we increased the ability of Leuconostoc mesenteroides to produce mannitol and revealed its broad development prospects.

Efficient and Secure Member Deletion in Group Signature Scheme (그룹 서명 기법에서의 효율적이고 안전한 구성원 탈퇴 방법)

  • 김현정;임종인;이동훈
    • Journal of the Korea Institute of Information Security & Cryptology
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    • v.11 no.6
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    • pp.41-51
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    • 2001
  • Group signature schemes allow a group member to sign messages anonymously on behalf of the group. In case of dispute, only a designated group manager can reveal the identity of the member. During last decade, group signature schemes have been intensively investigated in the literature and applied to various applications. However, there has been no scheme properly handling the situation that a group member wants to leave a group or is excluded by a group manager. As noted in[3], the complexity of member deletion stands in the way of real world applications of group signatures and the member deletion problem has been a pressing open problem. In this paper we propose an efficient group signature scheme that allows member deletion. The length of the group public key and the size of signatures all independent of the size of the group and the security of the scheme relies on the RSA assumption. In addition, the method of tracing all signatures of a specific member is introduced.

Multi-level Optimization for Orthotropic Steel Deck Bridges (강바닥판교의 다단계 최적설계)

  • Cho, Hyo-Nam;Chung, Jee-Sung;Min, Daee-Hong;Lee, Kwang-Min
    • Proceedings of the Computational Structural Engineering Institute Conference
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    • 2000.04b
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    • pp.439-448
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    • 2000
  • A multi-level design synthesis (MLDA) algorithm for efficiently optimizing orthotropic steel deck bridges is proposed in the paper, because it is usually very difficult to optimize orthotropic steel deck bridges using a conventional single-level (CSL) algorithn since the bridges have a large number of members and show complex structural behaviors. In the proposed MLDS algorithms a coordination method is introduced to divide the bridges into main girders and orthotropic steel decks and decomposition method is also used to reduce the number of design variables of the decks for system level optimization. For efficient optimization of the bridges the MLDS algorithm incorporates the crucial approximation techliques such as constraints deletion and stress reanalysis. The constraint deletion technique for deflection is found to be very useful for the optimization problem of the bridges, since a deflection constraint is usually inactive in the design. Considering the complex system of the bridges, the proposed the efficient stress reanalysis technique may prove to be a very effective method, since it does not require expensive design sensitivity analyses. The applicability and robustness of the MLDS algorithm is demonstrated using various numerical examples and compared with other algorithm presently available so far.

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A Logit Type of Public Transit Trip Assignment Model Considering Stepwise Transfer Coefficients (Stepwise 환승계수를 고려한 Logit 유형 대중교통통행배정모형)

  • SHIN, Seongil;BAIK, Namcheol
    • Journal of Korean Society of Transportation
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    • v.34 no.6
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    • pp.570-579
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    • 2016
  • This study proposes a concept of Stepwise Transfer Coefficient(STC) which implies greater transfer cost with increasing the number of transfers. Thus, the public transport information system provides the choice sets of travel routes by the consideration of not only transportation time but also the optimum number of transfers. However, path choice problems that involve STC are found to include non additive cost, which requires additional route enumeration works. Discussions on route enumeration in actual transportation networks is very complicated, thereby warranting a theoretical examination of route search considering STC. From these points of view, this study results in a probability based transit trip assignment model including STC. This research also uses incoming link based entire route deletion method. The entire route deletion method proposed herein simplifies construction of an aggregation of possible routes by theoretically supporting the process of enumeration of the different routes from origin to destination. Conclusively, the STC reflected route based logit model is proposed as a public transportation transit trip assignment model.

Outlier Detection Based on MapReduce for Analyzing Big Data (대용량 데이터 분석을 위한 맵리듀스 기반의 이상치 탐지)

  • Hong, Yejin;Na, Eunhee;Jung, Yonghwan;Kim, Yangwoo
    • Journal of Internet Computing and Services
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    • v.18 no.1
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    • pp.27-35
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    • 2017
  • In near future, IoT data is expected to be a major portion of Big Data. Moreover, sensor data is expected to be major portion of IoT data, and its' research is actively carried out currently. However, processed results may not be trusted and used if outlier data is included in the processing of sensor data. Therefore, method for detection and deletion of those outlier data before processing is studied in this paper. Moreover, we used Spark which is memory based distributed processing environment for fast processing of big sensor data. The detection and deletion of outlier data consist of four stages, and each stage is implemented with Mapper and Reducer operation. The proposed method is compared in three different processing environments, and it is expected that the outlier detection and deletion performance is best in the distributed Spark environment as data volume is increasing.

Improvement of Face Recognition Rate by Preprocessing Based on Elliptical Model (타원 모델기반의 전처리 기법에 의한 얼굴 인식률 개선)

  • Won, Chul-Ho
    • Journal of Korea Society of Industrial Information Systems
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    • v.13 no.4
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    • pp.56-63
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    • 2008
  • Image calibration at preprocessing step is very important for face recognition rate improvement, and background noise deletion affects accuracy of face recognition specially. In this paper, a method is proposed to remove background area utilizing elliptical model at preprocessing step for face recognition rate improvement. As human face has the shape of ellipse, a face contour can be easily detected by using the elliptical model in face images.

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COGNITIVE SPELLING THERAPIST: A combined method for correcting four types of spelling errors: insertion, deletion, transposition, substitution (인지적 철자 교정 후보 제시기: 삽입, 생략, 전위, 대치 오류 수정을 위한 복합 방안)

  • Lee, Jong-Ho;Lee, Jong-Hyeok;Lee, Gun-Bae
    • Annual Conference on Human and Language Technology
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    • 1994.11a
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    • pp.132-139
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    • 1994
  • Cognitive Spelling Therapist generates the candidates for correction of one-letter misspelling words, which correspond to over 80 % of the misspelling words. One-letter misspelling can be divided into four categories, and for each categories Cognitive Spelling Therapist copes them with seperate cognitive therapies. Each therapy is based on cognitive causes of misspelling: figural confusion, pronunciation confusion, and keyboard confusion. Cognitive Spelling Therapist generates three candidates for correction in average. After we tested the correctness of candidates with 185 misspelled words randomly sampled from two typist for two months, Cognitive Spell Therapist showed 97.5 % correction for substitution errors, while insertion, deletion, and transposition errors were perfectly corrected.

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