• Title/Summary/Keyword: copy number

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Low Level of TERC Gene Amplification between Chronic Myeloid Leukaemia Patients Resistant and Respond to Imatinib Mesylate Treatment

  • Mohamad Ashari, Zaidatul Shakila;Sulong, Sarina;Hassan, Rosline;Husin, Azlan;Sim, Goh Ai;Wahid, S. Fadilah Abdul
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.4
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    • pp.1863-1869
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    • 2014
  • The amplification of telomerase component (TERC) gene could play an important role in generation and treatment of haematological malignancies. This present study was aimed to investigate copy number amplification status of TERC gene in chronic myeloid leukaemia (CML) patients who were being treated with imatinib mesylate (IM). Genomic DNA was extracted from peripheral blood of CML-IM Resistant (n=63), CML-IM Respond (n=63) and healthy individuals (n=30). TERC gene copy number predicted (CNP) and copy number calculated (CNC) were determined based on $Taqman^{(R)}$ Copy Number Assay. Fluorescence in situ hybridization (FISH) analysis was performed to confirm the normal signal pattern in C4 (calibrator) for TERC gene. Nine of CML patients showed TERC gene amplification (CNP=3), others had 2 CNP. A total of 17 CML patients expressed CNC>2.31 and the rest had 2.31>CNC>1.5. TERC gene CNP value in healthy individuals was 2 and their CNC value showed in range 1.59-2.31. The average CNC TERC gene copy number was 2.07, 1.99 and 1.94 in CML-IM Resistant patients, CML-IM Respond and healthy groups, respectively. No significant difference of TERC gene amplification observed between CML-IM Resistant and CML-IM Respond patients. Low levels of TERC gene amplification might not have a huge impact in haematological disorders especially in terms of resistance towards IM treatment.

An Efficient Network System Call Interface supporting minimum memory copy (메모리 복사를 최소화화는 효율적인 네트워크 시스템 호출 인터패이스)

  • 송창용;김은기
    • The Journal of Korean Institute of Communications and Information Sciences
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    • v.29 no.4B
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    • pp.397-402
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    • 2004
  • In this paper, we have designed and simulated a new file transmission method. This method restricts memory copy and context switching happened in traditional file transmission. This method shows an improved performance than traditional method in network environment. When the UNIX/LINUX system that uses the existing file transfer technique transmits a packet to the remote system, a memory copy between the user and kernel space occurs over twice at least. Memory copy between the user and kernel space increase a file transmission time and the number of context switching. As a result, the existing file transfer technique has a problem of deteriorating the performance of file transmission. We propose a new algorithm for solving these problems. It doesn't perform memory copy between the user and kernel space. Hence, the number of memory copy and context switching is limited to the minimum. We have modified the network related source code of LINUX kernel 2.6.0 to analyzing the performance of proposed algorithm and implement new network system calls.

Copy Propagation in CTOC (CTOC에서 복사 전파)

  • Kim, Ki-Tae;Kim, Je-Min;Yoo, Won-Hee
    • Journal of the Korea Society of Computer and Information
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    • v.12 no.1 s.45
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    • pp.1-8
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    • 2007
  • Although the Java bytecode has numerous advantages. there ate also shortcomings such as slow execution speed and difficulty in analysis. Therefore. in order for the Java class file to be effectively executed under the execution environment such as the network, it is necessary to convert it into optimized code. We implements CTOC. CTOC generated CFG using the existing bytecode then created the SSA Form for analysis and optimization. However. due to insertion or the ${\phi}$-function in the process of conversion into the SSA Form, the number of nodes increased. As a means of reducing the number of nodes, we performed copy propagation, which is an optimization method applicable to the SSA form. Copy propagation is the process of a value of a variable being topied to another variable. There are cases where conversion due to copy propagation alone does not yield significant effects. However, when variables are not used in the later optimization stages, copy propagation provides a means for eliminating the copy statement for the corresponding variable, making it an important step. This paper shows the copy propagation to obtain a more optimized code in SSA Form.

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A Study of Eye Blinking : I (눈의 깜박임에 대한 연구 : I)

  • Gong, Myeong-Ok;Kim, Yeon-Min
    • Journal of the Ergonomics Society of Korea
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    • v.4 no.1
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    • pp.7-10
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    • 1985
  • Eye blinking in case of three visual tasks is studied; wall hard-copy and color monitor. The eye blinking is checked by eye-status detector. The data observed are (1) the average number of eye blinking (2) the average time of eye blinking for three minutes in case of all three visual tasks. The results are as follows: (1) The average times (or numbers) of eye blinking are different among three tasks. (2) The average time (or number) of eye blinking of wall is different from hard-copy and color monitor tasks. (3) But the average time (or number) of eye blinking of hard-copy is not different from that of color monitor.

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Isolation and characterization of plasmids isolated from streptomyces spp. and construction of recombinant plasmids (Streptomyces 속으로 부터 분리한 플라스미드의 특성 및 재조합 유도체의 제조)

  • 유주현;염도영;공인수
    • Korean Journal of Microbiology
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    • v.25 no.4
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    • pp.255-261
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    • 1987
  • Five independent Actinomycetes harboring plasmids were isolated from soil. Molecular weight of these plasmids was 55kb, 6.2kb, 4.4kb, 55kb and 7.0kb, respectively. Among them small and apprent high copy number plasmids, pJY501 of 4.4kb and pHY711 of 7.0kb, were selected. The plasmids purified by CsCl-EtBr density gradient centrifugation preserved the conformation of supercoiled covalently closed circular molecule, and an apparent copy number was estivated about 150 and about 35 per chromosome. The isolates carrying plasmids were assigned to the genus Streptomyces. For the purpose of introducing selection markers into the isolated plasmids, the tsr fragmemt of pIJ702 was inserted into the BclI site of pJY 501 and pJY711. And the recombinant plasmids constructed designated as pJY502 and pJY712 respectively.

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Exonic copy number variations in rare genetic disorders

  • Man Jin Kim
    • Journal of Genetic Medicine
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    • v.20 no.2
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    • pp.46-51
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    • 2023
  • Exonic copy number variation (CNV), involving deletions and duplications at the gene's exon level, presents challenges in detection due to their variable impact on gene function. The study delves into the complexities of identifying large CNVs and investigates less familiar but recurrent exonic CNVs, notably enriched in East Asian populations. Examining specific cases like DRC1, STX16, LAMA2, and CFTR highlights the clinical implications and prevalence of exonic CNVs in diverse populations. The review addresses diagnostic challenges, particularly for single exon alterations, advocating for a strategic, multi-method approach. Diagnostic methods, including multiplex ligation-dependent probe amplification, droplet digital PCR, and CNV screening using next-generation sequencing data, are discussed, with whole genome sequencing emerging as a powerful tool. The study underscores the crucial role of ethnic considerations in understanding specific CNV prevalence and ongoing efforts to unravel subtle variations. The ultimate goal is to advance rare disease diagnosis and treatment through ethnically-specific therapeutic interventions.

재조합 효모를 이용한 항혈전 단백질 히루딘 발효 생산공정의 최적화

  • Kim, Myeong-Dong;Gang, Hyeon-A;Lee, Sang-Gi;Seo, Jin-Ho
    • 한국생물공학회:학술대회논문집
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    • 2001.11a
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    • pp.99-102
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    • 2001
  • Recombinant Saccharomyces cerevisiae strains harboring various copy numbers of hirudin gene were developed to study dependency of hirudin expression level on its gene copy number. A linear relationship between the copy number of hirudin expression cassette and hirudin expression level was observed up to 10 copies. A double <5-integration vector truncated wi 디 1 the unnecessary bacterial genes before yeast transformation showed a four-fold increase in transformation efficiency and a 1.3-fold enhancement in hirudin expression level compared with a single <5 system. Gratuitous hirudin expression strain was developed by disrupting the GALl gene of S. cerevisiae. Glucose that was fed in a limited manner effectively supported cell growth and hi겨din expression by the gratuitous strain. Effects of methanol concentrations on hirudin production in recombinant Hansenula polymorpha were investigated in continuous and fed-batch cultures. At a steady-state of continuous culture, an optimum methanol concentration of 1.7 g/L was determined at a dilution rate of 0.18 $h^{-1}$ with 1.8 mg/L ${\cdot}$ h hirudin productivity.

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Comparison of Methods for Detecting and Quantifying Variation in Copy Numbers of Duplicated Genes

  • Jeon, Jin-Tae;Ahn, Sung-Jin
    • Communications for Statistical Applications and Methods
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    • v.16 no.6
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    • pp.1037-1046
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    • 2009
  • Copy number variations(CNVs) are known as one of the most important factors in susceptibility to genetic disorders because they affect expression levels of genes. In previous studies, pyrosequencing, mini-sequencing real-time polymerase chain reaction(PCR), invader assays and other techniques have been used to detect CNVs. However, the higher the copy number in a genome, the more difficult it is to resolve the copies, so a more accurate method for measuring CNVs and assigning genotype is needed. PCR followed by a quantitative oligonucleotide ligation assay(qOLA) was developed for quantifying CNVs. The aim of this study was to compare the two methods for detecting and quantifying the CNVs of duplicated gene: the published pyrosequencing assay(pyro_CNV) and the newly developed qOLA_CNV. The accuracy and precision of the assay were evaluated for porcine KIT, which was selected as a model locus. Overall, the root mean squares(RMSs) of bias and standard deviation of qOLA_CNV were 2.09 and 0.45, respectively. These values are less than half of those of pyro CNV.

Direct Evaluation of the Effect of Gene Dosage on Secretion of Protein from Yeast Pichia pastoris by Expressing EGFP

  • Liu, Hailong;Qin, Yufeng;Huang, Yuankai;Chen, Yaosheng;Cong, Peiqing;He, Zuyong
    • Journal of Microbiology and Biotechnology
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    • v.24 no.2
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    • pp.144-151
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    • 2014
  • Increasing the gene copy number has been commonly used to enhance the protein expression level in the yeast Pichia pastoris. However, this method has been shown to be effective up to a certain gene copy number, and a further increase of gene dosage can result in a decrease of expression level. Evidences indicate the gene dosage effect is product-dependent, which needs to be determined when expressing a new protein. Here, we describe a direct detection of the gene dosage effect on protein secretion through expressing the enhanced green fluorescent protein (EGFP) gene under the direction of the ${\alpha}$-factor preprosequence in a panel of yeast clones carrying increasing copies of the EGFP gene (from one to six copies). Directly examined under fluorescence microscopy, we found relatively lower levels of EGFP were secreted into the culture medium at one copy and two copies, substantial improvement of secretion appeared at three copies, plateau happened at four and five copies, and an apparent decrease of secretion happened at six copies. The secretion of EGFP being limiting at four and five copies was due to abundant intracellular accumulation of proteins, observed from the fluorescence image of yeast and confirmed by western blotting, which significantly activated the unfolded protein response indicated by the up-regulation of the BiP (the KAR2 gene product) and the protein disulfide isomerase. This study implies that tagging a reporter like GFP to a specific protein would facilitate a direct and rapid determination of the optimal gene copy number for high-yield expression.

Construction of the Stable and High Copy Number Yeast Vectors (고효율 효모 유전자 운반체의 개발)

  • 김태국;최철용;노현모
    • Microbiology and Biotechnology Letters
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    • v.16 no.6
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    • pp.476-483
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    • 1988
  • Yeat-Escherichia coli shuttle vectors were constructed by combination of various functional segments such as autonomous replicating sequence (ARS1), centromere region (CEN3), origin of replication of 2 $\mu$m plasmid (2 $\mu$m OR). Transformation efficiency, stability and copy number of constructed vectors were analyzed in yeast strains, SHY4(cir$^+$) containing 2 $\mu$m plasmid and NNY1(cir$^{\circ}$) without it. The results showed that centromere containing plasmids were very stable and existed at one copy per cell; fused replication system (2$\mu$m OR and ARS1) containing Plasmids were more stable and higher copy number than one replicon containing plasmids ; presence of endogenous 2$\mu$m plasmid influenced on stability and copy number of 2 $\mu$m based plasmids.

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