• 치과방사선
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• 제28권1호
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• pp.245-259
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• 1998

Cellular transforming genes have been identified in a number of different tumor cell lines and tumor types. A significant number of these oncogenes belong to the ras gene family. The ras gene family consists of three closely related genes:H-ras, K-ras and N-ras which code for a related 21 kDa protein. Mutations in codon 12, 13 and 61 of one of the three ras genes convert these genes into acute oncogenes. The presence of H-ras gene mutations has important prognostic implications in various tumors. Each genomic DNA was isolated from tumors induced by implantation with DMBA, or by treatment with DMBA -implantation/irradiation. When genome DNA was transfected into NIH 3T3 cells and investigated by two-step PCR-RFLP, the fOllowing results were concluded: 1. Transformation foci developed in two groups when the genome DNA of two experimental groups were transfected into NIH 3T3 cells. 2. Transformation efficiency was 0.01-0.02 foci/㎍DNA in the experimental group with the DMBA-implantation, 0.01-0.03 foci/㎍lgDNA in the experimental group with the DMBA-implantation/irradiation according to results of transfection assay. 3. When the point mutation of H-ras gene was investigated by a two-step PCR-RFLP, there was 13.9％ (5/36) in the experimental group with the DMBA implantation, 15.4 ％ (6/39) in the experimental group with the DMBA -implantation/irradiation. 4. The point mutation in codon 12 and 61 of H-ras was 5.6％(2/36) and 8.3％(3/36) in the experimental group with the DMBA implantation. 5. The point mutation in codon 12 and 61 of H-ras gene was 7.7％(3/39) in the experimental group with the DMBA -implantation/irradiation.

• 농약과학회지
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• 제15권1호
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• pp.61-67
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• 2011

2010년에 청주, 충주-1, 충주-2, 강진, 예산, 그리고 영주에서 채집한 점박이응애의 bifenazate 약제 저항성을 확인 해 본 결과, 강진과 예산 개체군에서 각각 964.5배, 1130배의 높은 저항성을 나타내었다. 그리고 청주, 충주-1, 충주-2, 그리고 영주개제군에서는 낮은 저항성비를 나타내었다. Bifenazate 약제 저항성 점박이응애의 cytb 점 돌연변이인 G126S를 확인해 본 결과, 생물검정에서 높은 저항성을 보인 강진과 예산 개체군에서 G126S 점 돌연변이를 확인 할 수 있었다. 이와 같이, G126S 점 돌연변이는 bifenazate 약제 저항성을 가지는 점박이응애 선별에 아주 유용한 분자진단 마커로 이용될 수 있다. 두 가지 분자진단 방법인 quantitative sequencing(QS)와 PCR amplification of specific alleles(PASA)는 G126S 점 돌연변이를 잘 탐지하였다. 따라서 이러한 방법들은 야외 계통의 bifenazate 약제 저항성 형질 모니터링과 저항성 관리에 효율적으로 이용될 수 있을 것이다.

• IMMUNE NETWORK
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• 제1권2호
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• pp.151-161
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• 2001

Background: Inactivation in p53 tumor suppressor gene through a point mutation and deletion is one of the most frequent genetic changes found in human cancer, with 50% of an incidence. This high rate of mutation mostly suggests that the gene plays a central role in the development of cancer and the mutations detected so far were found in exons 5 to 8. Mutation of p53 locus produced accumulation of abnormal p53 protein, and negative regulation of cell proliferation and transcriptional activation as a suppressor of transformation were lost. In addition, inhibition of its normal cellular function of wild-type by mutant is an important step in tumorigenesis. Method: 4 colon cancer cell lines (SNU C1, C2A, C4, C5) were examined for mutation in exons 5 to 8 of the p53 tumor suppressor gene by PCR-SSCP analysis and expression pattern by western blotting and immunoprecipitation. p53-mediated transactivation ability were examined by CAT assay and base substitution of p53 in SNU C2A cell were detected by DNA sequencing. Results: 1) SNU C2A cell and SNU C5 cell were detected mobility shifts each in exon 5 and exon 7 of p53 gene by the PCR-SSCP method, implicating being of p53 mutation. 2) 3 colon cancer cell lines (SNU C1, SNU C2A, SNU C5) expressed wild type and mutant type p53 protein. 3) In northern blot experiment, SNU C2A and SNU C5 cell expressed high level of p53 mRNA. 4) Results of p53-mediated transactivation in colon cancer cell lines by CAT assay represented only SNU C2A cell has transcriptional activity. 5) DNA sequencing in SNU C2A cell showed missense mutation in codon 179 of one allele, histidine to arginine and wild type p53 in the other allele. Conclusion: Colon cancer cell lines showed correlation with mutation in p53 gene and accumulation of abnormal p53 protein. Colon cancer cell SNU C2A retained p53-mediated transactivation as heterozygous p53 with one mutant allele in 179 codon and the other wild-type allele.

• Clinical and Experimental Pediatrics
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• 제48권3호
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• pp.337-341
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• 2005

선천성 갑상선 항진증은 드문 질환으로 모체로부터 TSH에 대한 자가항체가 태반을 통해 태아에게 전달되어 생기며 일시적인 경우가 많다. 선천성 갑상선 항진증이 지속되지만 자가면역질환의 검사 소견을 보이지 않을 때에는 TSHR의 돌연변이에 의한 갑상선 항진증을 고려해야 한다. 저자들은 TSHR의 돌연변이에 의한 갑상선 항진증 증례를 2례 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제42권6호
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• pp.337-344
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• 2016

Objectives: The purpose of this study was to evaluate the anti-cancer activity of cisplatin by studying its effects on cell viability and identifying the mechanisms underlying the induction of cell cycle arrest and apoptosis on oral squamous cell carcinoma (OSCC) cell lines with varying p53 mutation status. Materials and Methods: Three OSCC cell lines, YD-8 (p53 point mutation), YD-9 (p53 wild type), and YD-38 (p53 deletion) were used. To determine the cytotoxic effect of cisplatin, MTS assay was performed. The cell cycle alteration and apoptosis were analyzed using flow cytometry. Western blot analysis was used to detect the expression of cell cycle alteration- or apoptosis-related proteins as well as p53. Results: Cisplatin showed a time- and dose-dependent anti-proliferative effect in all cell lines. Cisplatin induced G2/M cell accumulation in the three cell lines after treatment with 0.5 and $1.0{\mu}g/mL$ of cisplatin for 48 hours. The proportion of annexin V-FITC-stained cells increased following treatment with cisplatin. The apoptotic proportion was lower in the YD-38 cell line than in the YD-9 or YD-8 cell lines. Also, immunoblotting analysis indicated that p53 and p21 were detected only in YD-8 and YD-9 cell lines after cisplatin treatment. Conclusion: In this study, cisplatin showed anti-cancer effects via G2/M phase arrest and apoptosis, with some difference among OSCC cell lines. The mutation status of p53 might have influenced the difference observed among cell lines. Further studies on p53 mutation status are needed to understand the biological behavior and characteristics of OSCCs and to establish appropriate treatment.

• Asian Pacific Journal of Cancer Prevention
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• 제16권17호
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• pp.7889-7892
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• 2015

Background: Primary idiopathic myelofibrosis (PMF) is a clonal Ph-chromosome negative myeloproliferative neoplasm characterized by dysregulated kinase signaling and release of abnormal cytokines. In the recent past, following JAK2 V617F mutation invention, important revolution has been made in the molecular diagnostic biology of this disease. The rational of this study was to determine the mutational status of JAK2 V617F in Pakistan patients with PMF. Materials and Methods: In this cross sectional study, 20 patients with PMF were enrolled from January 2011 to December 2014. Diagnosis was based on WHO criteria for PMF. All patients were screened for G-T point mutation (V617F) in the JAK2 gene on chromosome 9 by allele specific PCR. Results: The mean age was $57.9{\pm}16.5years$. The male to female ratio was 3:1. The frequency of JAK2 V617F positivity in our PMF patients was found to be 55%. Positive correlations of JAK2 V617F mutation were established with high TLC count, raised LDH and marked splenomegaly (P<0.05). No correlation of JAK2 V617F could be established with age and gender (P>0.05). Conclusions: The JAK2 V617F mutation frequency in our PMF patients was similar to those reported previously. In our hands JAK2 V617F mutated patients expressed an aggressive disease phenotype. Screening for the mutation in all suspected PMF cases could be beneficial in differentiating patients with reactive and clonal marrow fibrosis.

• 한국응용곤충학회지
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• 제63권1호
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• pp.33-42
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• 2024

복숭아혹진딧물(Myzus persicae)은 다식성으로 담배, 감자, 고추, 배추, 복숭아 등에 심각한 피해를 입히는 대표적인 농업해충이다. 본 연구에서는 국내 복숭아혹진딧물 야외개체군의 λ-cyhalothrin, imidacloprid 및 flupyradifurone에 대한 약제 저항성 발달 수준과 점 돌연변이(R81T, L1014F, M918L)의 발생 여부를 확인하였다. 또한, qRT-PCR을 통해 사이토크롬 P450 유전자인 CYP6CY3 발현량을 확인하였다. 그 결과, λ-cyhalothrin은 저항성비(Resistance Ratio, RR)가 12개 모든 지역이 > 200으로 높은 저항성을 보였다. Imidacloprid와 flupyradifurone은 YS, UR, HY, 그리고 WJ 개체군에서 > 200의 저항성비로 높은 저항성을 나타냈다. R81T는 12개 집단 중 약 50%, L1014F는 약 33.3%, M918L은 100%에서 발현하였다. 또한 qRT-PCR을 통해 imidacloprid 저항성 개체에서 subunit CYP6CY3의 발현량이 높게 나타난 것을 확인하였다. 이러한 결과는 M918L 점 돌연변이는 λ-cyhalothrin 저항성 진단마커로, R81T와 CYP6CY3의 높은 발현은 imidacloprid 저항성 진단마커로 활용이 가능하다는 것을 시사한다.

• Animal cells and systems
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• 제3권3호
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• pp.331-336
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• 1999

p56$^{Ick}$, a cytoplasmic protein tyrosine kinase of the src family, is non-covalently associated with the cell surface coreceptors CD4 and CD8, which are expressed on thymocytes and mature T cells. The coreceptor protein plays an important role during the differentiation of thymocytes and the activation of T cells. DNA constructs were designed to study the roles of CD4 and CD8 during the differentiation of thymocytes. One is a chimeric cDNA which consists of coding regions for the extracellular domain of CD8a and the transmembrane and cytoplasmic domain of CD4. The other is the same chimeric cDNA but with a point mutation converting Cys to Ala in the Ick-binding site to disrupt the association. We confirmed that the CD8a/CD4 chimeric molecule bound to Ick more efficiently than the wild type CD8a protein. However, the chimeric protein with the Cys$leftrightarro$Ala mutation did not associate with Ick. The results suggest a possibility that the CD8a/CD4 chimeric protein may behave like a CD4 protein in associating with Ick and that it may deliver a signal inside the cell in a similar manner, Analysing effects of the mutant CD8a/CD4 chimeric protein expression in developing thymocytes will elucidate the role of Ick during the determination of CD4/CD8 cell lineages.

• Journal of Electrical Engineering and Technology
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• 제13권3호
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• pp.1202-1211
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• 2018

In this paper, induction machine operation efficiency and torque is improved using Machine Learning based Gene Optimization (ML-GO) Technique is introduced. Optimized Genetic Algorithm (OGA) is used to select the optimal induction machine data. In OGA, selection, crossover and mutation process is carried out to find the optimal electrical machine data for induction machine design. Initially, many number of induction machine data are given as input for OGA. Then, fitness value is calculated for all induction machine data to find whether the criterion is satisfied or not through fitness function (i.e., objective function such as starting to full load torque ratio, rotor current, power factor and maximum flux density of stator and rotor teeth). When the criterion is not satisfied, annealed selection approach in OGA is used to move the selection criteria from exploration to exploitation to attain the optimal solution (i.e., efficient machine data). After the selection process, two point crossovers is carried out to select two crossover points within a chromosomes (i.e., design variables) and then swaps two parent's chromosomes for producing two new offspring. Finally, Adaptive Levy Mutation is used in OGA to select any value in random manner and gets mutated to obtain the optimal value. This process gets iterated till finding the optimal value for induction machine design. Experimental evaluation of ML-GO technique is carried out with performance metrics such as torque, rotor current, induction machine operation efficiency and rotor power factor compared to the state-of-the-art works.

• Journal of Genetic Medicine
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• 제3권1호
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• pp.5-10
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• 1999

This is a case report of 46,XY female phenotype (46,XY karyotype, no pubic hair, blind vagina and absence of uterus)in an 18-year-old patient. To confirm whether a Y chromosome has a structural abnormality, fluorescent in situ hybridization (FISH) with the chromosome X/Y cocktail probe was simultaneously performed, and the six loci [PABY, RPS4Y(sy16, sy17), ZFY, DYS14] on the short arm, one locus (DYZ3) on the centromere and one locus (DYZ1) on the long arm were amplified by polymerase chain reaction (PCR). The probes used FISH hybridized to centromere of the X chromosome and heterochromatin region (Yq12) of the Y chromosome, and all PCR related Y chromosome showed positive band like normal male. From the results obtained, it seemed that the Y chromosome from the 46,XY female was structurely normal. Especially, the SRY gene has been equated with the mammalian testis-determining factor, and absence or point mutation in the SRY gene causes XY female. To detect the point mutations of SRY sequences, single-strand conformation polymorphism (SSCP) assay was used. Our results confirm that this patient has no mutation in the SRY gene on the Y chromosome.