• Title/Summary/Keyword: mutation rate

검색결과 349건 처리시간 0.034초

유전자 알고리듬을 이용한 운행비용 최소화 다용량 차량경로문제 (A Heterogeneous VRP to Minimize the Transportation Costs Using Genetic Algorithm)

  • 임무균;전건욱
    • 산업공학
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    • 제20권2호
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    • pp.103-111
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    • 2007
  • A heterogeneous VRP which considers various capacities, fixed and variable costs was suggested in this study. The transportation cost for vehicle is composed of its fixed and variable costs incurred proportionately to the travel distance. The main objective is to minimize the total sum of transportation costs. A mathematical programming model was suggested for this purpose and it gives an optimal solution by using OPL-STUDIO (ILOG CPLEX). A genetic algorithm which considers improvement of an initial solution, new fitness function with weighted cost and distance rates, and flexible mutation rate for escaping local solution was also suggested. The suggested algorithm was compared with the results of a tabu search and sweeping method by Taillard and Lee, respectively. The suggested algorithm gives better solutions rather than existing algorithms.

Rhizobium trifolii의 스트렙토마이신 내성 돌연변이주의 특성 (Studies on streptomycin resistant mutant strains of rhizobium trifolii)

  • 신종희;허연주;이영록
    • 미생물학회지
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    • 제25권4호
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    • pp.290-296
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    • 1987
  • Some streptomycin resistant strains of Rhizobium trifolii having nodulation ability were selected, and their nitrogenase activities, symbiotic effects on plant growth, and nodule electronmicroscope were compared with those of the wild type. After NTG treatment, as a mutagen, at the concentration exhibiting 99.7% lethal rate, 5 strains of streptomycin resistant mutant having nodulating ability were selected. Among these nodulating mutant strains, 3 strains produced more nodules and 2 strains showed less nodules than wild type. But their nitrogenase activities were decreased significantly, and nodule formation time was also delay compared with those of the wild type, and there was no remarkable difference in effects on plant growth. Microstructure of nodules by electronmicroscopy had mant distinctive differences between red clover nodules inoculated with wild type and mutants.

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유전자알고리즘에서 여왕벌 진화를 위한 강돌연변이 비율 및 확률의 자체조정 (Self-tuning of Strong Mutation Rate and Probability for Queen-Bee Evolution in Genetic Algorithms)

  • 정성훈
    • 한국정보처리학회:학술대회논문집
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    • 한국정보처리학회 2011년도 추계학술발표대회
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    • pp.245-248
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    • 2011
  • 본 논문에서는 여왕벌 진화를 모방하여 개발한 유전자알고리즘에서 강돌연변이 수행비율 및 강돌연변이 확률을 자체적으로 조정하는 방법을 제안한다. 이렇게 함으로서 적절한 강돌연변이 수행비율 및 강돌연변이 확률을 여러 번의 실험을 통하여 경험적으로 선택하는 문제를 완화하여 여왕벌 진화의 적용을 보다 쉽게 할 수 있다. 3개의 최적화문제에 제안한 방법을 적용해 본 결과 비교적 우수한 성능을 보였다. 하지만 다수의 실험을 통하여 얻은 최고의 성능보다는 우수하지는 못했는데 추후 성능을 보다 더 개선하여 이에 근접한 성능을 얻을 수 있는 알고리즘의 개발이 필요하다.

Variants of LYST and Novel STK4 Gene Mutation in a Child With Accelerated Chediak Higashi Syndrome

  • Asrar Abu Bakar;Haema Shunmugarajoo;Jeyaseelan P. Nachiappan;Intan Hakimah Ismail
    • Pediatric Infection and Vaccine
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    • 제31권1호
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    • pp.122-129
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    • 2024
  • Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia.

Prevalence and clinical manifestations of macrolide resistant Mycoplasma pneumoniae pneumonia in Korean children

  • Lee, Eun;Cho, Hyun-Ju;Hong, Soo-Jong;Lee, Jina;Sung, Heungsup;Yu, Jinho
    • Clinical and Experimental Pediatrics
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    • 제60권5호
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    • pp.151-157
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    • 2017
  • Purpose: Macrolide resistance rate of Mycoplasma pneumoniae has rapidly increased in children. Studies on the clinical features between macrolide susceptible-M. pneumoniae (MSMP) and macrolide resistant-M. pneumoniae (MRMP) are lacking. The aim of this study was to identify the macrolide resistance rate of M. pneumoniae in Korean children with M. pneumoniae penupmonia in 2015 and compare manifestations between MSMP and MRMP. Methods: Among 122 children (0-18 years old) diagnosed with M. pneumoniae pneumonia, 95 children with the results of macrolide sensitivity test were included in this study. Clinical manifestations were acquired using retrospective medical records. Results: The macrolide resistant rate of M. pneumoniae was 87.2% (82 of 94 patients) in children with M. pneumoniae pneumonia. One patient showed a mixed type of wild type and A2063G mutation in 23S rRNA of M. pneumoniae. There were no significant differences in clinical, laboratory, and radiologic findings between the MSMP and MRMP groups at the first visit to our hospital. The time interval between initiation of macrolide and defervescence was significantly longer in the MRMP group ($4.9{\pm}3.3$ vs. $2.8{\pm}3.1days$, P=0.039). Conclusion: The macrolide resistant rate of M. pneumoniae is very high in children with M. pneumoniae pneumonia in Korea. The clinical manifestations of MRMP are similar to MSMP except for the defervescence period after administration of macrolide. Continuous monitoring of the occurrence and antimicrobial susceptibility of MRMP is required to control its spread and establish strategies for treating second-line antibiotic resistant M. pneumoniae infection.

다제내성 결핵 균주에서 리팜핀과 리파부틴간의 교차내성률 및 rpoB 유전자 돌연변이와의 연관성 (Cross-resistance Between Rifampicin and Rifabutin and Its Relationship with rpoB Gene Mutations in Clinically Isolated MDR-TB Strains)

  • 김병주;오승환;조은진;박승규
    • Tuberculosis and Respiratory Diseases
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    • 제60권2호
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    • pp.171-179
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    • 2006
  • 목 적 : RFP과 RBU 사이의 교차 내성률은 다양하게 보고되고 있으며 rpoB 돌연변이가 이에 관여하는 것으로 알려져 있다. 본 연구에서는 본원에서 동정되어 보관중인 다제내성 결핵균주를 대상으로 하여 두 약물간의 교차 내성률 및 rpoB 돌연변이와의 연관성을 조사함으로써 다제내성 결핵의 치료에 있어 RBU의 효용성에 대하여 알아보고자 하였다. 방 법 : 2004년 한 해 동안 본원 검사실에서 다제내성 결핵균으로 동정되어 보관중인 130균주를 대상으로 하였다. RFP과 RBU의 내성검사는 L-J 배지를 이용한 절대농도법으로 시행하였으며 추가로 다음과 같은 다섯 가지의 농도를 이용하여 RBU의 MICs를 조사하였다; 10, 20, 40, 60, $120{\mu}g/ml$. 내성기준농도는 RFP의 경우 $40{\mu}g/ml$, RBU의 경우 $20{\mu}g/ml$로 하여 내성유무를 판정하였다. rpoB 돌연변이는 LiPA법을 이용한 REBA $MTB-Rifa^{(R)}$검사로 조사하였으며 염기서열분석을 의뢰하여 그 결과를 검증하고 구체적인 개별 돌연변이양상을 알아보았다. 결 과 : RFP은 모두 내성으로 확인되었고 RBU의 $MIC_{50}$$80{\mu}g/ml$, $MIC_{90}$${\geq}160{\mu}g/ml$였으며 RFP과 RBU간의 교차내성률은 70.5%였다. REBA $MTB-Rifa^{(R)}$검사 결과 rpoB 돌연변이는 대부분 코돈 524-534 사이에서 발생하였고 검사를 시행한 100균주 가운데 98개의 균주에서 돌연변이가 확인되어 RFP내성을 진단할 수 있는 진단율은 약물감수성검사와 비교하여 98%의 일치율을 보였다. 염기서열분석결과 코돈 531과 513의 돌연변이는 돌연변이의 양상에 관계없이 항상 RBU내성과 관련되어 있었던 반면 코돈 526의 돌연변이는 돌연변이의 양상에 따라 내성 혹은 감성과 관련되어 있었다. 가장 흔한 돌연변이는 Ser531Leu로 전체의 45.5%를 차지하였다. 약물감수성검사에 비추어 His526Gln, His526Leu, Leu533Pro, Gln513Glu, Leu511Pro가 감성 돌연변이로 판단되었다. 결 론 : 두 약제간의 내성률을 고려하여 볼 때 RBU은 일부 다제내성 결핵의 치료에 있어서 효과가 있겠다. 우선 RBU에 대한 전통적인 약물감수성 검사를 도입하여 적절한 내성기준농도를 확립하는 노력이 필요하며 현재까지 rpoB 유전자 검사법은 임상에 적용하기에 한계가 있는 것으로 사료된다.

근이영양증에 대한 착상전 유전진단에서 Duplex-nested PCR과 Fluorescent PCR 방법의 효용성 (Efficacy of Duplex-nested PCR and Fluorescent PCR in the Preimplantation Genetic Diagnosis for Duchenne Muscular Dystrophy)

  • 이형송;최혜원;임천규;박소연;김진영;궁미경;전진현;강인수
    • Clinical and Experimental Reproductive Medicine
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    • 제32권1호
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    • pp.17-26
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    • 2005
  • Objective: Preimplantation genetic diagnosis (PGD) is reserved for couples with a risk of transmitting a serious and incurable disease, and hence avoids the undesirable therapeutic abortion. In this study, we evaluated the efficacy of PGD for Duchenne muscular dystrophy (DMD) cases by the fluorescent PCR with polymorphic linked markers and the conventional duplex-nested PCR methods. Methods: Biopsy of one or two blastomeres was done from the embryos fertilized by ICSI on the third day after fertilization. We performed two cases of PGD-DMD by the duplex-nested PCR for the causative mutation loci and the SRY gene on Y chromosome. The triplex fluorescent PCR for the mutation loci, the SRY gene and the polymorphic microsatellite marker on X chromosome was applied for two cases of PGD-DMD. Results: By the duplex-nested PCR, successful diagnosis rate was 95.5% (21/22), but we could not discriminate the female embryos whether normal or carrier in this X-linked recessive disease. However, the triplex fluorescent PCR method showed 100% (27/27) of successful diagnosis rate, and all female embryos (n=17) were distinguished normal (n=10) from carrier (n=7) embryos. Unaffected and normal embryos were transferred into mother's uterus after diagnosis. A healthy normal male was achieved after PGD with the duplex-nested PCR method and a twin, a male and a female, were delivered with triplex fluorescent PCR method. The normality of dystrophin gene was confirmed by amniocentesis and postnatal genetic analysis in all offsprings. Conclusion: The fluorescent PCR with polymorphic marker might be useful in improving the specificity and reliability of PGD for single gene disorders.

Roles of Immunohistochemical Staining in Diagnosing Pulmonary Squamous Cell Carcinoma

  • Yan, Yue;Zhang, Ya-Xiong;Fang, Wen-Feng;Kang, Shi-Yang;Zhan, Jian-Hua;Chen, Nan;Hong, Shao-Dong;Liang, Wen-Hua;Tang, Yan-Na;He, Da-Cheng;Wu, Xuan;Zhang, Li
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권2호
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    • pp.551-557
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    • 2015
  • Background: Differentiating morphologic features based on hematoxylin-eosin (HE) staining is the most common method to classify pathological subtypes of non-small-cell lung cancer (NSCLC). However, its accuracy and inter-observer reproducibility in pathological diagnosis of poorly differentiated NSCLC remained to be improved. Materials and Methods: We attempted to explore the role of immunohistochemistry (IHC) staining in diagnosing pulmonary squamous cell carcinoma (SQCC) with poorly differentiated features by HE staining or with elevated serum adenocarcinoma-specific tumor markers (AD-TMs). We also compared the difference of epidermal growth factor receptor (EGFR) mutation rate between patients with confirmed SQCC and those with revised pathological subtype. Logistic regression analyses were used to test the association between different factors and diagnostic accuracy. Results: A total of 132 patients who met the eligible criteria and had adequate specimens for IHC confirmation were included. Pathological revised cases in poor differentiated subgroup, biopsy samples and high-level AD-TMs cases were more than those with high/moderate differentiation, surgical specimens and normal-level AD-TMs. Moreover, biopsy sample was a significant factor decreasing diagnostic accuracy of pathological subtype (OR, 4.037; 95% CI 1.446-11.267, p=0.008). Additionally, EGFR mutation rate was higher in patients with pathological diagnostic changes than those with confirmed SQCC (16.7% vs 4.4%, p=0.157). Conclusions: Diagnosis based on HE staining only might cause pathological misinterpretation in NSCLC patients with poor differentiation or high-level AD-TMs, especially those with biopsy samples. HE staining and IHC should be combined as pathological diagnostic standard. The occurrence of EGFR mutations in pulmonary SQCC might be overestimated.

Clinicopathologic and Demographic Evaluation of Triple-Negative Breast Cancer Patients among a Turkish Patient Population: a Single Center Experience

  • Somali, Isil;Ustaoglu, Bahar Yakut;Tarhan, Mustafa Oktay;Yigit, Seyran Ceri;Demir, Lutfiye;Ellidokuz, Hulya;Erten, Cigdem;Alacacioglu, Ahmet
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권10호
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    • pp.6013-6017
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    • 2013
  • Background: To evaluate the clinicopathologic and demographic characteristics of triple-negative breast cancer (TNBC) patients and to determine differences from non-triple-negative cases. Materials and Methods: A detailed review of the medical records of 882 breast cancer (BC) patients was conducted to obtain information regarding age, menopausal status, height and weight at the time of diagnosis, presence of diabetes or hypertension, and pathologic characteristics of the tumor (tumor size, lymph node status, histologic grade, ER status, PR status, HER2 status, p53 mutation). Body mass index (BMI) was calculated and a value of ${\geq}30$ was considered as indicative of obesity. Results: 14.9% (n=132) of the patients had TNBC. There was no difference among the patients in terms of median age, comorbid conditions and menopausal status. The proportion of medullary, tubular and mucinous carcinomas was significantly higher (15.9%) in the triple-negative (TN) group, while invasive lobular histology was more frequent (8.2%) among non-triple negative (NTN) cases (p<0.001). Grade 3 (G3) tumors were more frequent in the triple-negative group (p<0.001). The rate of p53 mutation was 44.3% in TN tumors versus 28.2% in the NTN group (p<0.001). The two groups were similar in terms of LN metastasis. In the NTN group, the rate of patients with BMI ${\geq}30$ was 53% among postmenopausal patients, while it was 36% among premenopausal women, and the difference was statistically significant (p<0.001). No significant difference was observed in terms of BMI between postmenopausal and premenopausal patients in the TN group (p=0.08). Conclusions: TNBC rates and clinicopathologic characteristics of the Turkish patient population were consistent with the data from Europe and America. However, no relationship between obesity and TNBC was observed in our study. The association between TNBC and obesity needs to be evaluated in a larger patient population.

장미 삽목묘의 감마선 처리에 의한 화색 돌연변이체 유기 (Induction of Petal Color Mutants through Gamma Ray Irradiation in Rooted Cuttings of Rose)

  • 고갑천;김민자;강시용
    • 원예과학기술지
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    • 제28권5호
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    • pp.796-801
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    • 2010
  • 이 연구는 감마선 처리에 의한 장미($Rosa$ $hybrida$ Hort.) 신품종을 개발하기 위한 효과적인 방법을 개발하고 돌연변이 발생 형태를 알아보기 위해 실시하였다. 장미 스피델라와 커버넷 두 품종에 감마선($^{60}Co$ 선원)을 선량별(0, 30, 50, 70, 90, 110, 130, 150, 170Gy)로 조사하여 돌연변이 유기에 적정한 선량과 변이의 발생 양상을 구명하였다. 약 50% 식물체가 고사하는 반치사($LD_{50}$) 선량은 품종에 따라 차이가 있었는데 '스피델라'는 110Gy에서, '커버넷'은 150Gy이었다. 식물체의 50% 신초길이 감소 선량은 '스피델라'에서 70Gy 선량 정도 이었는데 비해 '커버넷'에서는 110Gy 선량에서 나타났다. 분홍색의 '스피델라'와 적색의 '커버넷'에 30-170Gy 선량의 감마선을 처리하여 다양한 색의 완전변이, 키메라, 모자익 꽃잎을 가진 변이체를 유기할 수 있었다. '스피델라' 에서 흰색, 상아색, 분홍색을 띤 상아색, 옅은 분홍색 그리고 진분홍색의 꽃잎을 가진 변이가 출현하였고, '커버넷'에서 분홍색, 진분홍색, 자홍색, 주황색, 그리고 진한 자색의 꽃잎을 가진 변이가 발생하였다. 돌연변이 유기를 위해서 식물체 생존율, 신초생장, 돌연변이 발생률을 고려할 때 '스피델라'는 70-90Gy, '커버넷'은 90-110Gy의 선량 처리가 적당하였다.