• Title/Summary/Keyword: mutation rate

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Medical review of Insurance claims for GIST and MALToma (기스트와 말토마의 보험의학적 악성도 판단)

  • Lee, Sin-Hyung
    • The Journal of the Korean life insurance medical association
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    • v.27 no.2
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    • pp.68-74
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    • 2008
  • Medical verification of cancer diagnosis in insurance claims is a very important procedure in insurance administrations. Claims staffs are in need of medical experts' opinions about claim administration. This procedure is called medical claim review (MCR) and is composed of verification and advice. MCR verification evaluates the insured’s physical condition by medical records and compares it with product coverage. It is divided into assessment of living assurance benefit, verification of cancer, and assessment of the cause of death. Actually cancer verification of MCR is applicable to coding because the risk ratio in product development is usually coded data. There are some confusing neoplastic diseases in assessing the verification of cancer. This article reviews gastrointestinal stromal tumors (GIST) and mucosa-associated lymphoid tissue tumors (MALToma) of the stomach. The second most common group of stromal or mesenchymal neoplasms affecting the gastrointestinal tract is GIST. Nowadays there are many articles about the pathophysiology of GIST. However there are few confirmative theories except molecular cell biology of KIT mutation and some tyrosine kinase. Therefore, coding the GIST, which has previously been classified as an intermediate risk group according to NIH2001 criteria, for cancer verification of MCR is suitable for D37.1; neoplasm of uncertain or unknown behavior of digestive organs and the stomach. The gastrointestinal tract is the predominant site of extranodal non-Hodgkin's lymphomas. B-cell lymphomas of the MALT type, now called extranodal marginal zone B-cell lymphoma of MALT type in the REAL/WHO classification, are the most common primary gastric lymphomas worldwide. Its characteristics are as follows. First, it is different from traditional stomach cancers such as gastric adenocarcinoma. Second, the primary therapy of MALToma is the eradication of H. pylori by antibiotics and the remission rate is over 80%. Third, it has a different clinical course compared to traditional malignant lymphoma. Someone insisted that cancer verification is not possible for the above reasons. However, there have been findings on pathologic mechanism, and according to WHO classification, MALToma is classified into malignant B-cell lymphoma and it must be verified as malignancy in MCR.

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ASCL2 Gene Expression Analysis and Its Association with Carcass Traits in Pigs

  • Cheng, H.C.;Zhang, F.W.;Deng, C.Y.;Jiang, C.D.;Xiong, Y.Z.;Li, F.E.;Lei, M.G.
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.10
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    • pp.1485-1489
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    • 2007
  • Achaete-scute like 2 (ASCL2) gene encodes a member of the basic helix-loop-helix transcription factor which is essential for the maintenance of proliferating trophoblasts during placental development. ASCL2 gene preferentially expresses the maternal allele in the mouse. However, it escapes genomic imprinting in the human. In this study, the complete open reading frame consisting of 193 amino acids of ASCL2 gene was obtained. Sequence analysis indicated that a C-G mutation existed in the 3' region between Meishan and Large White pigs. The polymorphism was used to determine the monoallelic or biallelic expression with RT-PCR-RFLP in pigs of Large $White{\times}Meishan$ $F_1$ hybrids. Imprinting analysis indicated that the ASCL2 gene expression was biallelic in all the tested tissues (heart, liver, spleen, lung, kidney, stomach, small intestine, skeletal muscle, fat, uterus, ovary and pituitary). PCR-RFLP was used to detect the polymorphism in 270 pigs of the "$Large\;White{\times}Meishan$" $F_2$ resource population. The statistical results showed highly significant associations of the genotypes and fat meat percentage (FMP), lean meat percentage (LMP) and ratio of lean to fat (RLF) (p<0.01), and significant associations of the genotypes and loin eye area (LEA) and internal fat rate (IFR) (p<0.05).

Dictyostelium discoideum Ax2 as an Assay System for Screening of Pharmacological Chaperones for Phenylketonuria Mutations

  • Kim, Yu-Min;Yang, Yun Gyeong;Kim, Hye-Lim;Park, Young Shik
    • Journal of Microbiology and Biotechnology
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    • v.25 no.6
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    • pp.782-787
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    • 2015
  • In this study, we developed an assay system for missense mutations in human phenylalanine hydroxylases (hPAHs). To demonstrate the reliability of the system, eight mutant proteins (F39L, K42I, L48S, I65T, R252Q, L255V, S349L, and R408W) were expressed in a mutant strain (pah-) of Dictyostelium discoideum Ax2 disrupted in the indigenous gene encoding PAH. The transformed pah - cells grown in FM minimal medium were measured for growth rate and PAH activity to reveal a positive correlation between them. The protein level of hPAH was also determined by western blotting to show the impact of each mutation on protein stability and catalytic activity. The result was highly compatible with the previous ones obtained from other expression systems, suggesting that Dictyostelium is a dependable alternative to other expression systems. Furthermore, we found that both the protein level and activity of S349L and R408W, which were impaired severely in protein stability, were rescued in HL5 nutrient medium. Although the responsible component(s) remains unidentified, this unexpected finding showed an important advantage of our expression system for studying unstable proteins. As an economic and stable cell-based expression system, our development will contribute to mass-screening of pharmacological chaperones for missense PAH mutations as well as to the in-depth characterization of individual mutations.

A Study on Design of Evolving Hardware using Field Programmable Gate Array (FPGA를 이용한 진화형 하드웨어 설계 및 구현에 관한 연구)

  • 반창봉;곽상영;이동욱;심귀보
    • Journal of the Korean Institute of Intelligent Systems
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    • v.11 no.5
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    • pp.426-432
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    • 2001
  • This paper is implementation of cellular automata neural network system using evolving hardware concept. This system is a living creatures'brain based on artificial life techniques. Cellular automata neural network system is based on the development and the evolution, in other words, it is modeled on the ontogeny and phylogney of natural living things. The phylogenetic mechanism are fundamentally non-deterministic, with the mutation and recombination rate providing a major source of diversity. Ontogeny is deterministic and local physics. Cellular automata is developed from initial cells, and evaluated in given environment. And genetic algorithms take a part in adaptation process. In this paper we implement this system using evolving hardware concept. Evolving hardware is reconfigurable hardware whose configuration si under the control of an evolutionary algorithm. We design genetic algorithm process for evolutionary algorithm and cells in cellular automata neural network for the construction of reconfigurable system. The effectiveness of the proposed system if verified by applying it to Exclusive-OR.

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ORAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1: CASE REPORT (제1형 신경섬유종증 환아의 구강내 병소의 치험례)

  • Gwon, Sun-Yeon;Kim, Tae-Wan;Kim, Young-Jin;Kim, Hyun-Jung;Nam, Soon-Hyeun
    • Journal of the korean academy of Pediatric Dentistry
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    • v.35 no.3
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    • pp.556-561
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    • 2008
  • Neurofibromatosis is an autosomal dominant disorder caused by a mutation of a tumor supressor gene on the long arm of chromosome 17. There are two types of neurofibromatosis, and development of neurofibroma is one of clinical diagnostic criteria for neurofibromatosis. The clinical signs of neurofibromatosis include as skin lesions, bone deformities, and tumors involving central nervous system. About 25% of neurofibromatosis involves oral neurofibroma. Radiographically, oral neurofibroma is well-defined unilocular radiolucency, which involves mandibular canal, mandibular foramen and mental foramen. When a lesion is small and approachable, complete resection, including 1cm of marginal connective tissue, is feasible. However, there are studies reporting that the recurrence rate after surgical resection is high and frequent recurrence may even increase the risk of malignant transformation. This case reports a patient with neurofibromatosis type I, accompanying oral neurofibroma, who shows a favorable result after surgical resection of the oral lesion.

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Complete Chloroplast DNA Sequence from a Korean Endemic Genus, Megaleranthis saniculifolia, and Its Evolutionary Implications

  • Kim, Young-Kyu;Park, Chong-wook;Kim, Ki-Joong
    • Molecules and Cells
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    • v.27 no.3
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    • pp.365-381
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    • 2009
  • The chloroplast DNA sequences of Megaleranthis saniculifolia, an endemic and monotypic endangered plant species, were completed in this study (GenBank FJ597983). The genome is 159,924 bp in length. It harbors a pair of IR regions consisting of 26,608 bp each. The lengths of the LSC and SSC regions are 88,326 bp and 18,382 bp, respectively. The structural organizations, gene and intron contents, gene orders, AT contents, codon usages, and transcription units of the Megaleranthis chloroplast genome are similar to those of typical land plant cp DNAs. However, the detailed features of Megaleranthis chloroplast genomes are substantially different from that of Ranunculus, which belongs to the same family, the Ranunculaceae. First, the Megaleranthis cp DNA was 4,797 bp longer than that of Ranunculus due to an expanded IR region into the SSC region and duplicated sequence elements in several spacer regions of the Megaleranthis cp genome. Second, the chloroplast genomes of Megaleranthis and Ranunculus evidence 5.6% sequence divergence in the coding regions, 8.9% sequence divergence in the intron regions, and 18.7% sequence divergence in the intergenic spacer regions, respectively. In both the coding and noncoding regions, average nucleotide substitution rates differed markedly, depending on the genome position. Our data strongly implicate the positional effects of the evolutionary modes of chloroplast genes. The genes evidencing higher levels of base substitutions also have higher incidences of indel mutations and low Ka/Ks ratios. A total of 54 simple sequence repeat loci were identified from the Megaleranthis cp genome. The existence of rich cp SSR loci in the Megaleranthis cp genome provides a rare opportunity to study the population genetic structures of this endangered species. Our phylogenetic trees based on the two independent markers, the nuclear ITS and chloroplast MatK sequences, strongly support the inclusion of the Megaleranthis to the Trollius. Therefore, our molecular trees support Ohwi's original treatment of Megaleranthis saniculifolia to Trollius chosenensis Ohwi.

A Structural Learning of MLP Classifiers Using PfSGA and Its Application to Sign Language Recognition (PfSGA를 이용한 MLP분류기의 구조 학습 및 수화인식에의 응용)

  • 김상운;신성효
    • Journal of the Korean Institute of Telematics and Electronics C
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    • v.36C no.11
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    • pp.75-83
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    • 1999
  • We propose a PfSGA(parameter-free species genetic algorithm) to learn the topological structure of MLP classifiers being adequate to given applications. The PfSGA is a combinational method of SGA(species genetic algorithm) and PfGA(parameter-free genetic algorithm). In SGA, we divide the total search space into several subspaces(species) according to the number of hidden units, and reduce the unnecessary search by eliminating the low promising species from the evolutionary process. However the performances of SGA classifiers are readily affected by the values of parameters such as mutation ratio and crossover ratio. In this paper, therefore, we combine SGA with PfGA, for which it is not necessary to determine the learning parameters. Experimental results on benchmark data and sign language words show that PfSGA can reduce the learning time of SGA and is not affected by the selection parameter values on structural learning. The results also show that PfSGA is more efficient than the exisiting methods in the aspect of misclassification ratio, learning rate, and complexity of MLP structure.

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The Effect of CYP Polymorphism on Resistance against Praziquantel in Clonorchis Sinensis-infected Patients

  • Kim, Chung-Hyeon;Choi, Min-Ho;Chae, Jong-Il;Shin, Eun-Hee;Hong, Sung-Tae
    • Molecular & Cellular Toxicology
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    • v.3 no.3
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    • pp.195-197
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    • 2007
  • Currently praziquantel is used for treatment of not only clonorchiasis but also other trematodes and cestodes. But cure rate of praziquantel is just 60-80% for most trematodes. It needs for the treatment-failed patients to have more drugs. The cause of failure of treatment is not studied. We just know that the blood level of praziquantel is severely different among the people. We guess that this factor may influence the results of treatment. In an endemic area of human clonorchiasis in Heilongjiang Providence, China, 78 subjects were selected for the study. Three doses of 25 mg/kg (total 75 mg/kg) of praziquantel were administered to 78 clonorchiasis patients. After three weeks of treatment, stool examination was undertaken once again to confirm the cured and uncured subjects. To analyze SNP (single nucleotide polymorphism) of CYP3A5 PS2-1, CYP3A5 PS2-2, and CYP3A5*6, PCR method was done with specifically designed primers. The mutation rates of all sites were not significant statistically. The number of subjects was too small, so we need more subjects and other delivery proteins of bile ducts (ex. MRP etc.) were also considered for effects of praziquantel. We analyzed, for the first time, the entire CYP3A5 gene in a French population, using a polymerase chain reaction- single strand conformational polymorphism (PCR-SSCP) strategy.

Lack of Association Between LIG4 Gene Polymorphisms and the Risk of Breast Cancer: A HuGE Review and Meta-analysis

  • Zhou, Li-Ping;Luan, Hong;Dong, Xi-Hua;Jin, Guo-Jiang;Man, Dong-Liang;Shang, Hong
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.7
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    • pp.3417-3422
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    • 2012
  • Objective: Non-homologous end joining (NHEJ) is one of the pathways of repair of DNA double-strand breaks. A number of genes involved in NHEJ have been implicated as breast cancer susceptibility genes such as LIG4. However, some studies have generated conflicting results. The aim of this Human Genome Epidemiology (HuGE) review and meta-analysis was to investigate association between LIG4 gene polymorphisms in the NHEJ pathway and breast cancer risk. Methods: Studies focusing on the relationship between LIG4 gene polymorphisms and susceptibility to breast cancer were selected from the Pubmed, Cochrane library, Embase, Web of Science, Springerlink, CNKI and CBM databases. Data were extracted by two independent reviewers and the meta-analysis was performed with Review Manager Version 5.1.6 and STATA Version 12.0 software, calculating odds ratios (ORs) with 95% confidence intervals (95%CIs). Results: According to the inclusion criteria, we final included seven studies with a total of 10,321 breast cancer cases and 10,160 healthy controls in the meta-analysis. The results showed no association between LIG4 gene polymorphisms (rs1805386 T>C, rs1805389 C>T, rs1805388 C>T and rs2232641 A>G) and breast cancer risk, suggesting that the mutant situation of these SNPs neither increased nor decreased the risk for breast cancer. In the subgroup analysis by Hardy-Weinberg equilibrium (HWE) and ethnicity, we also found no associations between the variants of LIG4 gene and breast cancer risk among HWE, non-HWE, Caucasians, Asians and Africans. Conclusion: This meta-analysis suggests that there is a lack of any association between LIG4 gene polymorphisms and the risk of breast cancer.

Sequence Analysis of E2 Glycoprotein from Indian Isolate of Classical Swine Fever Virus (CSFV)

  • Bajwa, Mehak;Verma, Ramneek;Deka, Dipak;Dhol, Gagandeep Singh;Barman, Nagendra Nath
    • Microbiology and Biotechnology Letters
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    • v.43 no.1
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    • pp.22-30
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    • 2015
  • CSF is a major concern for the swine industry, representing currently the most epizootically dangerous disease to the species. Numerous CSFV isolates with various degrees of virulence have already been isolated worldwide, ranging from low virulent strains that do not result in any apparent clinical signs to highly virulent strains that cause a severe per acute hemorrhagic fever with very high mortality. The molecular epidemiology of CSFVs has proven to be an essential tool for effective disease control and the development of safe and effective vaccines. Therefore, this study cloned and sequenced local CSFV isolates, and conducted a phylogenetic analysis based on the E2 glycoprotein encoding sequences.The RNA was extracted from PK15 cell culture passaged CSFV isolates, the cDNA prepared, and the complete E2 gene amplified with a product size of 1186 bp. The gelpurified PCR product was cloned into a pGEMT easy vector and the positive clone commercially sequenced. Aligning the nucleotide (1119 bp) and amino acid (373) sequences with 29 reference strains revealed nucleotide and amino acid sequence identities of 82.60-97.80% and 88.70-98.70%, respectively, indicating a higher mutation rate of the field CSFV strains. The phylogenetic analysis based on the complete E2 amino acid sequences also revealed a reliable differentiation of all the analyzed strains into specific genetic groups and subgroups, plus the local isolate (CSFV-E2) was found to cluster with the CSFV subgroup 2.2. Thus, the full-length E2 cds proved to be most suitable for a reliable and statistically significant phylogenetic analysis of CSFV isolates.