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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.
착상 전 유전진단으로 획득된 비정상 배아를 이용한 유전질환 인간 배아줄기세포 수립 연구 동향
설혜원 ( Hye Won Seol ),이지영 ( Ji Young Lee ),최영민 ( Young Min Choi ) 서울대학교 인구의학연구소 2015 人口醫學硏究論集 Vol.28 No.-
Human embryonic stem cells (hESCs) are derived from the inner cell mass (rCM) of blastocyst embryos. They are established from surplus embryos that have been obtained by in vitro fertilization (IVF) and donated for research purposes. The rCM-derived cell lines have two unique properties, they can be propagated indefinitely in culture and have the potential to develop into any cell type in vivo and in vitro. Human ESCs carrying specific mutations can be used as a powerful tool for studying genetic disorders in human. One preferable approach for obtaining these cell lines is their derivation from affected preimplanration genetic diagnosed (PGD) embryos. These unique cells are important for modeling human genetic disorders for which there are no suitable research models. They can be further used to gain new insights into developmentally regulated events that occur during human embryo development and that are responsible for the manifestation of genetically inherited disorders. In this review, we will introduce a current state of the studies for PGD-derived hESCs carrying mutation for genetic disorders that have great potential for the investigation of new therapeutic protocols, including gene-therapy-based treatments and disease-oriented drug screening and discovery.
설혜원 ( Hye Won Seol ),오선경 ( Sun Kyung Oh ),최영민 ( Young Min Choi ) 서울대학교 인구의학연구소 2013 人口醫學硏究論集 Vol.26 No.-
Pluripotency and proliferative capacity of pluripotent stem cells such as human embryonic stem cells (hESCs) and induced pluripotent stem cells (iPSCs) make them a promising source for basic and applied research as well as therapeutic medicine. However, pluripotent stem cells have a tendency to acquire chromosomal aberrations during prolonged culture in vitro. Maintaining the genetic stability of stem cells is a big concern for researchers. The genetic stability of human pluripotent stem cells is commonly monitored by karyotyping (G-banding). We investigated the high resolution technique including FISH, CGH and MLPA for detecting of genetic instability in stem cells. The monitoring of genetic instability by high resolution technique as well as karyotyping would facilitate us to maintain the genetic stability of pluripotent stem cells.
설혜원 ( Hye Won Seol ),오선경 ( Sun Kyung Oh ),최영민 ( Young Min Choi ) 서울대학교 인구의학연구소 2014 人口醫學硏究論集 Vol.27 No.-
The pluripotency of human embryonic stem cells(hESC5) makes them very attractive as a source of various cell types that could be used therapeurtically in regenerative. Many hESC lines have been established for over the last several years. However, most of them were generated in the presence of animal serum and animal derived feeder cells. Therefore, eliminating all sources of contamination, both animal-derived and human cell-derived, during hESC derivation and propagarion is necessary before hESC derivatives can be used clinically. The long-term success ofr good manufacruring practices (GMP) compliance depends critically on maintaining and implementing a stringent quality control system which is also dictated by the regulatory authorities in different countries. GMP-qualitry xeno-freen hESC lines could be currently established using embryos cultured in a GMP facility, isolating the inner cell mass mechanically, deriving lines on human feeders originally cultured in xeno-free medium in a GMP laboratory, and using xeno-free media for derivation and culture on hESC lines themselves, In this paper, we reviewed the current studies for establishmenr of the clinical-grade hESC lines.
정상과 비정상핵형을 가진 인간 배아줄기세포의 비교 분석
설혜원 ( Hye Won Seol ),백진아 ( Jin Ah Baek ),정주원 ( Ju Won Jung ),윤보애 ( Bo Ae Yoon ),김희선 ( Hee Sun Kim ),오선경 ( Sun Kyung Oh ),구승엽 ( Seung Yup Ku ),김석현 ( Seok Hyun Kim ),문신용 ( Shin Yong Moon ),최영민 ( Young M 서울대학교 인구의학연구소 2011 人口醫學硏究論集 Vol.24 No.-
Human embryonic stem cells (hESCs) are a useful source for biological research fields and applications in regenerative medicine. The maintenance and distribution of the undifferentiated hESCs of normal karyotypes are very important. The changes of colony morphology were observed during the culturing of hESCs, and chromosomal analysis was performed in this study. Abnormal karyotypes were identified in the cells which have the changes of the colony morphology. Attachment ratio and the spontaneous differentiation ratio of abnormal cells were compared to those of normal cells. High cell attachment ratio and low spontaneous differentiation ratio were confirmed in karyotypically abnormal cells. HESCs showed chromosomal anomaly if the colony morphology changed, and high attachment ratio and low spontaneous differentiation ratio have been observed during the cell culture. Our results suggest that the morphology of the colonies would play a ro1e as a criterion for chromosomal anomaly.
설혜원 ( Hye Won Seol ),오선경 ( Sun Kyung Oh ),최영민 ( Young Min Choi ) 서울대학교 인구의학연구소 2010 人口醫學硏究論集 Vol.23 No.-
In 2003, the International Stem Cell Forum (ISCF) started work to develop a set of agreed global criteria for the derivation, characterization and maintenance of human stem cell lines. As part of this work, the Forum has invited research groups worldwide to submit stem cell lines from their laboratories for inclusion in a large-scale characterization project using ISCF criteria. ISCE membership comprises 21 medical research funders from around the world that are committed to advancing stem cell research including Stem Cell Research Center (SCRC) of South Korea. The ISCF is currently working on several projects aimed at addressing key issues for stem cell scientists and funders: Ethics Working Party (EWP), Intellectual Property Rights (IPR), the international Stem Cell Initiative (ISCI), and the international Stem Cell Banking Initiative (ISCBI). Particularly, ISCI does not aim to impose any views on researchers in the field, but rather to facilitate the development of consensus views where that is possible. Also, ISCBI will aid the development of international efforts on harmonization and best practice for preparation of high quality cells for research. It will also provide a key forum for rigorously evaluating some of the requirements for the clinical application of stem cell lines. The project should also stimulate further international initiatives to deliver safe and reliable stem cell therapies for the future. Well-characterized, stable stem cell lines that grow and reproduce predictably are essential for successful stem cell research.