• 제목/요약/키워드: CSGE

검색결과 5건 처리시간 0.017초

Multiplex PCR과 Conformation Sensitive Gel Electrophoresis를 이용한 혈우병B F9 유전자 돌연변이 직접 진단법 (Direct detection of hemophilia B F9 gene mutation using multiplex PCR and conformation sensitive gel electrophoresis)

  • 유기영;김희진;이광철
    • Clinical and Experimental Pediatrics
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    • 제53권3호
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    • pp.397-407
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    • 2010
  • 목 적 : F9 유전자는 혈우병B의 병인 유전자이다. 기존의 RFLP를 이용한 연관분석은 정보제공율이 55.6%에 불과하였다. 직접 염기서열 분석법은 98%의 돌연변이를 진단할 수 있지만, 고가의 비용이 든다. 본 연구는 F9 유전자를 대상으로 돌연변이의 선별검사로써 mPCR-CSGE를 사용하고, 이후 특정 유전자 부위만을 염기서열 분석하여 mPCR-CSGE의 유용성을 확인하기 위해 고안되었다. 방 법 : 연구대상은 비혈연 관계인 27명의 혈우병B 환자였다. 직접염기서열 분석법은 독립된 다른 기관에서 시행하였고, mPCR-CSGE 선별 후 염기서열 분석법은 본 연구자의 기관에서 시행되었다. 직접 염기서열 분석법의 결과가 참고치가 되어 mPCR-CSGE 선별 후 염기서열 분석법을 정확성, 경제성, 신속성, 편이성 측면에서 비교하였다. 두가지 방법으로 진단이 되지 않는 환자에게는 MLPA를 이용하여 돌연변이를 발견하였다. 결 과 : 직접 염기서열 분석법으로 26명(96.3%)의 환자에서 돌연변이를 확인할 수 있었다. mPCR-CSGE 선별 후 염기서열 분석법으로는 23명(85.2%)의 환자에서 돌연변이를 찾아낼 수 있었다. 1명의 환자는 MLPA로써 돌연변이를 확인할 수 있었다. 27명의 환자에게 21개의 독립적인 돌연변이가 있었다. mPCR-CSGE 선별 후 염기서열 분석법은 직접 염기서열 분석법에 비해 비용은 55.7%로 줄일 수 있었으나, 실험 단계는 더욱 복잡하였고, 시간도 하루가 더 걸렸으며, 세심한 실험상의 주의가 필요하였다. 결 론 : mPCR-CSGE 선별 후 염기서열 분석법은 85.2%의 높은 돌연변이 선별력을 보이고, 직접 염기서열 분석법의 57.7%의 비용만 소모하였으나, 실험과정에 세한 주의가 요구되었으며, 노동집약적이고, 실험 시간도 하루가 더 소요되었다.

A Case Study for Developing the Mathematical Creativity in CNUE of Korea

  • Kim Soo-Hwan
    • 한국수학교육학회지시리즈D:수학교육연구
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    • 제9권2호
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    • pp.175-182
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    • 2005
  • This paper will present two activity cases for developing mathematical creativity at The Center for Science Gifted Education (CSGE) of Chongju National University of Education of Korea. One is 'the magic card mystery'; the other is 'mathematicians' efforts to solve equations'.

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Characterisation and Clinical Significance of FLT3-ITD and non-ITD in Acute Myeloid Leukaemia Patients in Kelantan, Northeast Peninsular Malaysia

  • Yunus, Noraini Mat;Johan, Muhammad Farid;Al-Jamal, Hamid Ali Nagi;Husin, Azlan;Hussein, Abdul Rahim;Hassan, Rosline
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권12호
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    • pp.4869-4872
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    • 2015
  • Background: Mutations of the FMS-like tyrosine kinase-3 (FLT3) receptor gene may promote proliferation via activation of multiple signaling pathways. FLT3-internal tandem duplication (FLT3-ITD) is the most common gene alteration found in patients diagnosed with acute myeloid leukaemia (AML) and has been associated with poor prognosis. Materials and Methods: We performed mutational analysis of exons 14-15 and 20 of the FLT3 gene in 54 AML patients using PCR-CSGE (conformational sensitive gel electrophoresis) followed by sequencing analysis to characterise FLT3 mutations in adult patients diagnosed with AML at Hospital USM, Kelantan, Northeast Peninsular Malaysia. Results: FLT3 exon 14-15 mutations were identified in 7 of 54 patients (13%) whereas no mutation was found in FLT3 exon 20. Six ITDs and one non-ITD mutation were found in exon 14 of the juxtamembrane (JM) domain of FLT3. FLT3-ITD mutations were associated with a significantly higher blast percentage (p-value = 0.008) and white blood cell count (p-value = 0.023) but there was no significant difference in median overall survival time for FLT3-ITD+/FLT3-ITD- within 2 years (p-value = 0.374). Conclusions: The incidence of FLT3-ITD in AML patients in this particular region of Malaysia is low compared to the Western world and has a significant association with WBC and blast percentage.

A Case Study on Gifted Education in Mathematics

  • Kim, Soo-Hwan
    • 한국수학교육학회지시리즈D:수학교육연구
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    • 제5권2호
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    • pp.87-98
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    • 2001
  • The Center for Science Gifted Education (CSGE) of Chongju National University of Education was established in 1998 with the financial support of the Korea. Science & Engineering Foundation (KOSEF). In fact, we had prepared mathematics and science gifted education program beginning in 1997. It was possible due to the commitment of faculty members with an interest in gifted education. Now we have 5 classes in Mathematics, two of which are fundamental, one of which is a strengthened second-grade class gifted elementary school students, and one a fundamental class, and one a strengthened class for gifted middle school students in Chungbuk province. Each class consists of 16 students selected by a rigorous examination and filtering process. Also we have a mentoring system for particularly gifted students in mathematics. We have a number of programs for Super-Saturday, Summer School, Winter School, and Mathematics and Science Gifted Camp. Each program is suitable for 90 or 180 minutes of class time. The types of tasks developed can be divided into experimental, group discussion, open-ended problem solving, and exposition and problem solving tasks. Levels of the tasks developed for talented elementary students in mathematics can be further divided into grade 5 and under, grade 6, and grade 7 and over. Types of the tasks developed can be divided into experimental, group discussion, open-ended problem solving, and exposition and problem solving task. Also levels of the tasks developed for talented elementary students in mathematics can be divided into the level of lower than grade 5, level of grade 6, and level of more than grade 7. Three tasks developed and practiced are reported in this article.

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Promyelocytic Leukemia (PML) Gene Mutations may not Contribute to Gastric Adenocarcinoma Development

  • Imani-Saber, Zeinab;Yousefi-Razin, Ehsan;Javaheri, Mona;Mirfakhraie, Reza;Motalleb, Gholamreza;Ghafouri-Fard, Soudeh
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권8호
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    • pp.3523-3525
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    • 2015
  • Gastric cancer is the second most common cause of cancer death worldwide. Environmental as well as genetic factors have been shown to be involved in its genesis. Among genetic factors, loss of function of a tumor suppressive gene named promyelocytic leukemia (PML) has been demonstrated in gastric cancer. In order to cast light in the mechanism by which PML protein is under-expressed in gastric cancer cells, we analyzed all exons and intron-exon boundaries of PML gene in 50 formalin-fixed paraffin-embedded tissue blocks from gastric carcinoma tumors by means of PCR-SSCP and CSGE, with direct sequencing of abnormally shifted bands. We found a novel sequence variant of unknown significance localized in intron 5 in 3 samples (c.1398+84delA). We did not detect any deleterious mutations of the PML gene. This study shows that PML mutations may not contribute to gastric adenocarcinoma development. Post-translational modifications or protein degradation might be mechanisms by which PML is not expressed in gastric tumors.