• 제목/요약/키워드: Mutation Frequency

검색결과 221건 처리시간 0.03초

Drosophila melanogaster에 있어서 Methyl methane sulfonate의 영향에 대한 생리유전학적 연구 (Physiological Genetic Studies on the Erects of Methyl methanesulfonate in Drosophila melanogaster)

  • 최혜영;최영현
    • 한국환경과학회지
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    • 제6권1호
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    • pp.45-52
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    • 1997
  • Methyl methanesulfonate (MMS) was fed to Drosophila melnogaster in order to investigate its toxic capability at developmental and adult stages, and the hereditary effect of toxicity and the potency for induction of sex-linked lethal mutation during the slyer-matogenesis by the means of an attached-X method. In the control group, the egg to adult viability of D. melnogaster was 95.2%, while 3. 5mM and 5.0mM treated groups were 90.0% and 84.1%, respectively. In the case of their progenies (Fl), the viability was 96.9% in the control group, while 3.5mM and 5.0mM treated groups were 54.5% and 1.6%, respectively. Therefore, these differences between two generations show significant physiological toxic effects in the next generation. In the parental generation, the developmental time was calculated 11.05 days in the control group, 12.43 days In 3.5%mM treated group, and 13.23 days in 5.0mM. In the case of Fl it was estimated 10.35 days in the control group, and 11.43 days In 3.5mM treated group. Compared with the control groups In two generations, the developmental time generally delayed as the dose of MMS increased. As to the sex-ratio, there was no differences between the control and MMS treated groups. The toxic values of adult stage showed which increased the frequency of mortality with MMS concentrations. The mortality at 120hr In the control group was 1.67% and it in 0.5mM MMS treated group 3.33%. In 2.5mM MMS treated group, it was 33.3% at 72hr, and it 95% at 120hr The increase of the morality was shown from 72hr in 4.0mM treated group which was 100% at 96hr. There was the concentration-dependent induction of sex-linked lethal mutation during the spermatogenesis by means of an attached-X method, MMS had more pronounced effect in sperm and spermaid stages in D. melnogaster.

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Coexisting JAK2V617F and CALR Exon 9 Mutations in Myeloproliferative Neoplasms - Do They Designate a New Subtype?

  • Ahmed, Rifat Zubair;Rashid, Munazza;Ahmed, Nuzhat;Nadeem, Muhammad;Shamsi, Tahir Sultan
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권3호
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    • pp.923-926
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    • 2016
  • The classic BCR-ABL1-negative myeloproliferative neoplasm is an operational sub-category of MPNs that includes polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The JAK2V617F mutation is found in ~ 95% of PV and 50-60% of ET or PMF. In most of the remaining JAK2V617F-negative PV cases, JAK2 exon 12 mutations are present. Amongst the JAK2V617F-negative ET or PMF 5-10% of patients carry mutations in the MPL gene. Prior to 2013, there was no specific molecular marker described in the remaining 30-40% ET and PMF. In December 2013, two research groups independently reported mutations in the gene CALR found specifically in ET (67-71%) and PMF (56-88%) but not in PV. Initially CALR mutations were reported mutually exclusive with JAK2 or MPL. However, co-occurrence of CALR mutations with JAK2V617F has been reported recently in a few MPN cases. Many studies have reported important diagnostic and prognostic significance of CALR mutations in ET and PMF patients and CALR mutation screening has been proposed to be incorporated into WHO diagnostic criteria for MPN. It is suggestive in diagnostic workup of MPN that CALR mutations should not be studied in MPN patients who carry JAK2 or MPL mutations. However JAK2V617F and CALR positive patients might have a different phenotype and clinical course, distinct from the JAK2-positive or CALR-positive subgroups and identification of the true frequency of these patients may be an important factor for defining the prognosis, risk factors and outcomes for MPN patients.

Distribution of KRAS and BRAF Mutations in Metastatic Colorectal Cancers in Turkish Patients

  • Gorukmez, Orhan;Yakut, Tahsin;Gorukmez, Ozlem;Sag, Sebnem Ozemri;Karkucak, Mutlu;Kanat, Ozkan
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권3호
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    • pp.1175-1179
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    • 2016
  • The results of this study demonstrate the potential prognostic and predictive values of KRAS and BRAF gene mutations in patients with colorectal cancer (CRC). It has been proven that KRAS and BRAF mutations are predictive biomarkers for resistance to anti-EGFR monoclonal antibody treatment in patients with metastatic CRC (mCRC). We demonstrated the distribution of KRAS (codons 12, 13 and 61) and BRAF (codon 600) gene mutations in 50 mCRCs using direct sequencing and compared the results with clinicopathological data. KRAS and BRAF mutations were identified in 15 (30%) and 1 (2%) patients, respectively. We identified KRAS mutations in codon 12, 13 and 61 in 73.3% (11/15), 20% (3/15) and 6.67% (1/15) of the positive patients, respectively. The KRAS mutation frequency was significantly higher in tumors located in the ascending colon (p=0.043). Thus, we found that approximately 1/3 of the patients with mCRC had KRAS mutations and the only clinicopathological factor related to this mutation was tumor location. Future studies with larger patient groups should yield more accurate data regarding the molecular mechanism of CRC and the association between KRAS and BRAF mutations and clinicopathological features.

저선량 방사선 노출에 대한 생물학적 지표로서 Glycophorin A 변이발현율 측정의 유용성 평가 (Assessment of the Glycophorin A Mutant Assay as a Biologic Marker for Low Dose Radiation Exposure)

  • 하미나;유근영;하성환;김동현;조수헌
    • Journal of Preventive Medicine and Public Health
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    • 제33권2호
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    • pp.165-173
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    • 2000
  • Objectives : To assess the availability of the glycophorin A (GPA) assay to detect the biological effect of ionizing radiation in workers exposed to low-doses of radiation. Methods : Information on confounding factors, such as age and cigarette smoking was obtained on 144 nuclear power plant workers and 32 hospital workers, by a self-administered questionnaire. Information on physical exposure levels was obtained from the registries of radiation exposure monitoring and control at each facility. The GPA mutant assay was performed using the BR6 method with modification by using a FACScan flow cytometer. Results : As confounders, age and cigarette smoking habits showed increasing trends with GPA variants, but these were of no statistical significance. Hospital workers showed a higher frequency of the GPA variant than nuclear power plant workers in terms of the NO variant. Significant dose-response relationships were obtained from in simple and multiple linear regression models. The slope of the regression equation for nuclear power plant workers was much smaller than that of hospital workers. These findings suggest that there may be apparent dose-rate effects. Conclusion : In population exposed to chronic low-dose radiation, the GPA assay has a potential to be used as an effective biologic marker for assessing the bone marrow cumulative exposure dose.

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도열병균의 방사선감수성에 관한 연구 (Radiation Effects on Pyricularia oryzae Cav. Causing Rice Blast Disease Organism)

  • 권신한;오정행;김호원
    • 한국응용곤충학회지
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    • 제13권4호
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    • pp.245-249
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    • 1974
  • 방사선을 이용한 도열병연구의 기초자료로서 도열병균의 포자와 발아균계에 각각 X-ray 10, 40, 80, 120kR를 조사시켜 그들의 방사선감수성 및 생존율을 조사한 결과는 다음과 같다. 1. 도열병균의 포자발아율은 X-ray 소사선량의 증가에 반비례하여 감소되었으며 120kR에서는 거의 생존하지 못하였다. 2. 비교적 저선량인 10kR 조사에서는 초기발아관신장의 촉진 현상을 보였으며 선량의 증가에 따라 균계의 사멸 현상이 현저하였다. 3. X-ray 조사에 의한 발아균계의 생존율 및 신장은 선량의 증가에 반비례하여 감소하였다. 4. X-ray를 조사받은 발아균계는 포자에 비하여 높은 방사선 감수성을 보였으며, 고선량일수록 그 차이는 현저하였다. 5. X-ray 조사에 의한 도열병균의 돌연변이율은 조사선량에 정비례하여 증가하였다.

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암면에 의한 세포독성 및 변이원성의 실험실적 평가 (In Vitro Assessment of Cytotoxicity and Mutagenicity of Rock Wool Fibers)

  • 홍윤철;이관희
    • Journal of Preventive Medicine and Public Health
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    • 제30권3호
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    • pp.555-566
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    • 1997
  • This study was carried out to evaluate the cytotoxicity of rock wool fibers(RWFs) such as cell division disturbance, chromosomal and DNA damage, and mutagenicity using cultured cells. RWFs were the man made mineral fibers. In order to find the correlation between the cytotoxicity of RWFs and the phagocytic capacity of cells, the phagocytic processes were observed using scanning electron microscope. Cell division disturbance by RWFs was evaluated by the formation of multinucleated giant cells. The chromosomal damage was evaluated by the micronucleus formation. For the evaluation of oxidative DNA damage, 8-hydroxy-2'-deoxyguanosine (8-OH-dG) formation was measured utilizing calf thymus DNA. Mutagenicity was determined by the point mutation of HGPRT and the effect of RWFs on cell transformation was also observed. 1. Compared with the results of chrysotile, RWFs were no or little effect on the cell growth according to the results done by the tests of cell proliferation inhibition and relative plating efficiency. 2. The frequency of multinucleated giant cell formation was increased by the treatment of RWFs and it was dose-dependent. However, the effect of RWFs was weaker than that of chrysotile. 3. The number of micronuclei formed in the RWFs treated cells was between those of cells treated with chrysotile and those of untreated cells. 4. The 2 fold increase in the formation of 8-OH-dG in calf thymus DNA was observed in the cells treated with RWFs in the presence of $H_2O_2$. On the other hand, chrysotile had no effect on the 8-OH-dG formation. 5. RWFs had no effect on the HGPRT point mutation and cell transformation. These results showed that RWFs could induce chromosomal damage, cell division disturbance and oxidative DNA damage in the RWFs treated cells.

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Brain somatic mutations in MTOR leading to focal cortical dysplasia

  • Lim, Jae Seok;Lee, Jeong Ho
    • BMB Reports
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    • 제49권2호
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    • pp.71-72
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    • 2016
  • Focal cortical dysplasia type II (FCDII) is a focal malformation of the developing cerebral cortex and the major cause of intractable epilepsy. However, since the molecular genetic etiology of FCD has remained enigmatic, the effective therapeutic target for this condition has remained poorly understood. Our recent study on FCD utilizing various deep sequencing platforms identified somatic mutations in MTOR (existing as low as 1% allelic frequency) only in the affected brain tissues. We observed that these mutations induced hyperactivation of the mTOR kinase. In addition, focal cortical expression of mutant MTOR using in utero electroporation in mice, recapitulated the neuropathological features of FCDII, such as migration defect, cytomegalic neuron and spontaneous seizures. Furthermore, seizures and dysmorphic neurons were rescued by the administration of mTOR inhibitor, rapamycin. This study provides the first evidence that brain somatic activating mutations in MTOR cause FCD, and suggests the potential drug target for intractable epilepsy in FCD patients.

Design of Optimal Digital IIR Filters using the Genetic Algorithm

  • Jang, Jung-Doo;Kang, Seong G.
    • International Journal of Fuzzy Logic and Intelligent Systems
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    • 제2권2호
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    • pp.115-121
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    • 2002
  • This paper presents an evolutionary design of digital IIR filters using the genetic algorithm (GA) with modified genetic operators and real-valued encoding. Conventional digital IIR filter design methods involve algebraic transformations of the transfer function of an analog low-pass filter (LPF) that satisfies prescribed filter specifications. Other types of frequency-selective digital fillers as high-pass (HPF), band-pass (BPF), and band-stop (BSF) filters are obtained by appropriate transformations of a prototype low-pass filter. In the GA-based digital IIR filter design scheme, filter coefficients are represented as a set of real-valued genes in a chromosome. Each chromosome represents the structure and weights of an individual filter. GA directly finds the coefficients of the desired filter transfer function through genetic search fur given filter specifications of minimum filter order. Crossover and mutation operators are selected to ensure the stability of resulting IIR filters. Other types of filters can be found independently from the filter specifications, not from algebraic transformations.

Chronological Switch from Translesion Synthesis to Homology-Dependent Gap Repair In Vivo

  • Fujii, Shingo;Isogawa, Asako;Fuchs, Robert P.
    • Toxicological Research
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    • 제34권4호
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    • pp.297-302
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    • 2018
  • Cells are constantly exposed to endogenous and exogenous chemical and physical agents that damage their genome by forming DNA lesions. These lesions interfere with the normal functions of DNA such as transcription and replication, and need to be either repaired or tolerated. DNA lesions are accurately removed via various repair pathways. In contrast, tolerance mechanisms do not remove lesions but only allow replication to proceed despite the presence of unrepaired lesions. Cells possess two major tolerance strategies, namely translesion synthesis (TLS), which is an error-prone strategy and an accurate strategy based on homologous recombination (homology-dependent gap repair [HDGR]). Thus, the mutation frequency reflects the relative extent to which the two tolerance pathways operate in vivo. In the present paper, we review the present understanding of the mechanisms of TLS and HDGR and propose a novel and comprehensive view of the way both strategies interact and are regulated in vivo.

Kogs데이타베이스로부터 얻은 계통학적인 아미노산 치환행렬 (A phylogenetic amino acid substitution matrix from Kogs database)

  • 안희성;김상수
    • Bioinformatics and Biosystems
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    • 제2권1호
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    • pp.7-11
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    • 2007
  • 하나의 아미노산이 다른 아미노산으로 바뀌는 가능성을 계통학적인 나무를 이용해서 치환행렬로 만들었다. PFMT(Phylogenetic Focused Mutaion Tendency)행렬은 기존의 PAM160이나 BLOSUM62와 다르게 공통조상으로부터 상위 종으로 치환되는 가능성을 점수화 하였다. COGs의 데이터베이스에 있는 152KOGs를 뽑아서 아미노산의 치환횟수를 점수화하였다. PFMT 행렬은 어떤 서열보다 더 상위 종의 서열을 비교할 때 유용하게 쓰일 수 있으며 2개의 아미노산간의 치환 관계를 더 자세하게 볼 수 있게 한다.

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