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형광직접보합법을 이용한 미배양 양수세포에서 산전 이수배수체 확인
설혜원,고희정,송남희,김숙령,이화진,오선경,박중신,전종관,윤보현,신희철,문신용,Seol, Hye-Won,Ko, Hee-Jung,Song, Nam-Hee,Kim, Sook-Ryoung,Lee, Hwa-Jin,Oh, Sun-Kyung,Park, Joong-Shin,Jun, Jong-Kwan,Yoon, Bo-Hyun,Syn, Hee-Chul,Moon, Shin- 대한생식의학회 2003 Clinical and Experimental Reproductive Medicine Vol.30 No.3
Objective: The aim of the present study was to evaluate the clinical efficiency of fluorescent in situ hybridization (FISH) in the prenatal diagnosis of chromosomal aneuploidy. Methods: We reviewed data of 268 cases to identify women undergoing genetic amniocentesis at cytogenetic laboratory, from January 2000 to December 2002. Amniotic fluid was submitted for both rapid FISH on uncultured interphase amniocytes using a commercially available DNA probe for chromosome 13, 18, 21, X, Y and standard karyotyping on cultured metaphase amniocytes. Results from FISH and full karyotype were compared. Results: There were 251 cases (84%) normal and 17 cases (16%) abnormal in FISH results. All 17 cases of trisomy 13, 18, 21 including two cases of mosaicism and sex chromosome aneuploidies which are detected by FISH were confirmed with conventional cytogenetics and there was no false positive result. Twenty two cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. Conclusion: Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be an effective and reliable technique for rapid fetal aneuploidy screening during pregnancy as an adjunctive test to conventional cytogenetics.
장명덕(Myung Deok Jang),송남희(Nam Hee Song) 한국초등과학교육학회 1998 초등과학교육 Vol.17 No.2
The purpose of this study is to investigate degree of the concept formation on cell in elementary school teachers and to clarify the patterns of their misconceptions. Data were collected by interview with 120 elementary school teachers, ranged from twenties to fifties in age, working in Taegu city. The instrument was developed by researchers and was categorized into four: cell as the basic units of life, morphology of cell, function of cell, growth of individual from the viewpoint of cell. The results are as follows: First, about 80% of teachers had two perspective outcome of cell: Cells are the basic units of life on earth. But the potato and meat, which we used to eat as food, are not constructed of cells but aggregated of nutrients. Second, most of elementary school teachers recognized that shapes of the cell in organisms were diverse, but some of them only could present several kinds of shape on cell. The 35% of teachers had misconception that shape of cell is all the same in a individual. It shows that this result is caused by lack of opportunity to observe the various kinds of cells. Third, most teachers understood cell can be seen only through a microscope. Yet in comparison with relative size, it was revealed that misconception of cell size was induced by the term of `basic unit`. In addition, they thought that large organisms are built from large cells, and small organisms from small cells. Fourth, Elementary school teachers used to confuse the terms between chloroplast and chlorophyll, and believed that the genetic material was contained only in the reproductive cells and seeds. It was also revealed that they thought the nutrients such as starch and fat are located at intercellular space. Fifth, the 60% of teachers conceived correctly that growth of individual depends on mitosis and increase in cell number. The rest of them, however, misunderstood that it is due to the increase of cell volume.
우미정 ( MI Jung Woo ),최진선 ( Jin Sun Choi ),송남희 ( Nam Hee Song ),고희정 ( Hee Jung Ko ),오선경 ( Sun Kyung Oh ),천대우 ( Dea Woo Chun ),박찬욱 ( Chan Wook Park ),홍준석 ( Joon Seok Hong ),박교훈 ( Kyo Hoon Park ),박중신 ( Jo 서울대학교 인구의학연구소 2010 人口醫學硏究論集 Vol.23 No.-
This study reviewed cytogenetic analysis in amniotic fluid cells and detected chromosomal abnormalities according to patient`s indications, The 511 cases obtained by amniocentesis were performed using traditional cytogenetic methods at the Institute of Reproductive Medicine and Population, Seoul National University between January and December 2009. The cytogenetic results of 511 cases on cultured amniotic fluid samples showed normal chromosomes (94.9%), chromosome heteromorphisms (2.7%), and chromosomal abnormalities (2.4%). Total 12 cases of abnormal fetal karyotypes were identified including 10 cases (2.0%) of numerical aberrations, 1 case of structural aberration, and 1 case of mosaicism. Numerical abnormalities consisted of autosomal aneuploidies with trisomy 18 (1 case) and 21 (8 cases) and sex chromosome abnormality (1 case). One case of structural abnormality showed balanced reciprocal translocation which was inherited from maternal carrier. The rate of indication with chromosome aberrations was most frequently detected in advanced maternal age, followed by abnormal maternal serum marker positive and abnormal ultrasonographic findings. Among fetuses with an abnormal karyotype, the advanced maternal age could be considered as a predictive marker. These data provide a comprehensive review of the prenatal diagnosis and helpful information in genetic counseling for patients with the high-risk pregnancy.
미배양 양수 세포에서 Fluorescence in Situ Hybridization을 이용한 trisomy 21의 산전 진단
우미정 ( Mi Jung Woo ),최진선 ( Jin Sun Choi ),송남희 ( Nam Hee Song ),고희정 ( Hee Jung Ko ),오선경 ( Sun Kyung Oh ),박찬욱 ( Chan Wook Park ),박교훈 ( Kyo Hoon Park ),박중신 ( Joong Shin Park ),전종관 ( Jong Kwan Jun ),김석현 ( 서울대학교 인구의학연구소 2011 人口醫學硏究論集 Vol.24 No.-
Fluorescence in situ hybridization (FISH) in uncultured amniotic fluid samples is a useful tool for rapid prenatal diagnosis in pregnancy with high risk for chromosomal aneuploidy. FISH using specific probes for chromosome 21 was performed in 39 amniotic fluid samples referred to the Institute of Reproductive Medicine and Population, Seoul National University. The results of FISH analysis were compared to the karyotype using conventional cytogenetic analysis. The most frequent indication performed FISH analysis was the abnormal ultrasonographic findings (61.5%). Trisomy 21 was identified in two our of 39 uncultured amniotic fluid samples by FISH. Conventional cytogenetic results revealed four chromosomal abnormalities which were not detectable by targeted FISH of chromosome 21 such as trisomy 13 and 18, inversion 5 and balanced reciprocal translocation. Interphase FISH analysis would be effective in conjunction with the conventional cytogenetic analysis.
Fluorescence in Situ Hybridization을 이용한 22q11.2 결손의 산전 진단
우미정 ( Mi Jung Woo ),최진선 ( Jin Sun Choi ),송남희 ( Nam Hee Song ),고희정 ( Hee Jung Ko ),오선경 ( Sun Kyung Oh ),천대우 ( Dea Woo Chun ),박찬욱 ( Chan Wook Park ),구승엽 ( Seung Yup Ku ),박교훈 ( Kyo Hoon Park ),박중신 ( Joon 서울대학교 인구의학연구소 2012 人口醫學硏究論集 Vol.25 No.-
A mictodeletion of chromosome 22q 11.2, which is the most common human deletion syndrome, has a wide phenotypic spectrum that involves a congenital heart defect, cleft palate or thymic hypoplasia identified at ultrasound examnination, The cases of 22q 11.2 deletion occur as a de novo event or can be inherited as an autosomal dominant. Fluorescence In situ hybridization (FISH) was performed to detect the 22q 11.2 deletion in 64 amniotic fluid samples referred to the Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University. The abnormal ultrasonographic finding was the most common reason for referral. The 22ql1.2 microdeletion was detected in 4 cases among 64 cases, all presenting heart anomaly by the ultrasonographic finding. The 22ql1.2 FISH testing is a useful diagnosis method in pregnancies with heart anomaly and may also be helpful in genetic counseling.
이운환(Woon Hwan Lee),김중욱(Jung Ouk Kim),손석락(Suck Rak Sohn),송남희(Nam Hee Song),송명섭(Myung Seub Song),임청환(Cheong Hwan Lim),최재환(Jae Hwan Choi) 한국초등과학교육학회 1995 초등과학교육 Vol.14 No.1
The purpose of this study is to investigate the attitudes related to the science of elementary school students. To investigate the attitude, modified TOSRA and KEDI`s attitude instrument used for measuring attitudes which was developed by Korea National University of Education. 710 subjects was sampled by stratified cluster sampling method. The major findings of this study are as follows. 1. Fifth grade students have significantly higher attitude scores than other grade students. 2. The value of correlation coefficient among subcategories of science attitudes was 0.3773∼0.6336, which was significant at the 0.001 level. 3. There was statistically significant difference between grade and sex in elementary school students.