• Title/Summary/Keyword: CSGE

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

  • Yoo, Ki Young;Kim, Hee Jin;Lee, Kwang Chul
    • Clinical and Experimental Pediatrics
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    • v.53 no.3
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    • pp.397-407
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    • 2010
  • Purpose : The F9 gene is known to be the causative gene for hemophilia B, but unfortunately the detection rate for restriction fragment length polymorphism-based linkage analysis is only 55.6%. Direct DNA sequencing can detect 98% of mutations, but this alternative procedure is very costly. Here, we conducted multiplex polymerase chain reactions (PCRs) and conformation sensitive gel electrophoresis (CSGE) to perform a screened DNA sequencing for the F9 gene, and we compared the results with direct sequencing in terms of accuracy, cost, simplicity, and time consumption. Methods : A total of 27 unrelated hemophilia B patients were enrolled. Direct DNA sequencing was performed for 27 patients by a separate institute, and multiplex PCR-CSGE screened sequencing was done in our laboratory. Results of the direct DNA sequencing were used as a reference, to which the results of the multiplex PCR-CSGE screened sequencing were compared. For the patients whose mutation was not detected by the 2 methods, multiplex ligation-dependent probe amplification (MLPA) was conducted. Results : With direct sequencing, the mutations could be identified from 26 patients (96.3%), whereas for multiplex PCRCSGE screened sequencing, the mutations could be detected in 23 (85.2%). One patient's mutation was identified by MLPA. A total of 21 different mutations were found among the 27 patients. Conclusion : Multiplex PCR-CSGE screened DNA sequencing detected 88.9% of mutations and reduced costs by 55.7% compared with direct DNA sequencing. However, it was more labor-intensive and time-consuming.

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

  • Kim Soo-Hwan
    • Research in Mathematical Education
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    • v.9 no.2 s.22
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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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    • v.16 no.12
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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
    • Research in Mathematical Education
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    • v.5 no.2
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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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    • v.16 no.8
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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.